Mikko Hiltunen

A Small TAT-TrkB Peptide Prevents BDNF Receptor Cleavage and Restores Synaptic Physiology in Alzheimer’s Disease

Fonseca-Gomes, João; Costa-Coelho, Tiago; Ferreira-Manso, Mafalda; Inteiro-Oliveira, Sara; Vaz, Sandra H; Alemãn-Serrano, Nuno; Atalaia-Barbacena, Henrique; Ribeiro-Rodrigues, Leonor; Ramalho, Rita M; Pinto, Rui; Miranda, Hugo Vicente; Tanqueiro, Sara R; de Almeida-Borlido, Carolina; Ramalho, Maria João; Miranda-Lourenço, Catarina; Belo, Rita F; Ferreira, Catarina B; Neves, Vera; Rombo, Diogo M; Viais, Ricardo; Martins, Ivo C; Jerónimo-Santos, André; Caetano, António; Manso, Nuno; Mäkinen, Petra. 2024. Molecular therapy. 32: 3372-3401 A1 Journal article (refereed), original research

A genome-wide association meta-analysis of all-cause and vascular dementia

Fongang, Bernard; Sargurupremraj, Muralidharan; Jian, Xueqiu; Mishra, Aniket; Damotte, Vincent; de Rojas, Itziar; Skrobot, Olivia; Bis, Joshua C.; Fan, Kang Hsien; Jacobsen, Erin; Li, Gloria Hoi Yee; Yang, Jingyun; Alessandra, Bizzarro; Alessandra, Lauria; Hilal, Saima; Chong, Joyce Ruifen; Chai, Yuek Ling; Knol, M. J.; Concas, Maria Pina; Giorgia, Girotto; Riaz, Moeen; Yu, Chenglong; Guojonsson, Alexander; Lacaze, Paul; Naj, Adam C.; Gireud-Goss, Monica; Wadop, Yannick N.; Soumare, Aicha; Boute. 2024. Alzheimer's & dementia. 20: 5973-5995 A1 Journal article (refereed), original research

Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial

Saadmaan, Gazi; Dalmasso, Maria Carolina; Ramirez, Alfredo; Hiltunen, Mikko; Kemppainen, Nina; Lehtisalo, Jenni; Mangialasche, Francesca; Ngandu, Tiia; Rinne, Juha; Soininen, Hilkka; Stephen, Ruth; Kivipelto, Miia; Solomon, Alina. 2024. Alzheimer's & dementia. 20: 4345-4350 A1 Journal article (refereed), original research

DPYSL5 is highly expressed in treatment-induced neuroendocrine prostate cancer and promotes lineage plasticity via EZH2/PRC2

Kaarijärvi, Roosa; Kaljunen, Heidi; Nappi, Lucia; Fazli, Ladan; Kung, Sonia H. Y.; Hartikainen, Jaana M.; Paakinaho, Ville; Capra, Janne; Rilla, Kirsi; Malinen, Marjo; Mäkinen, Petri I.; Ylä-Herttuala, Seppo; Zoubeidi, Amina; Wang, Yuzhuo; Gleave, Martin E.; Hiltunen, Mikko; Ketola, Kirsi. 2024. Communications biology. 7: . 108 A1 Journal article (refereed), original research

Deep learning assisted quantitative analysis of Aβ and microglia in patients with idiopathic normal pressure hydrocephalus in relation to cognitive outcome

Luikku, Antti J; Nerg, Ossi; Koivisto, Anne M; Hanninen, Tuomo; Junkkari, Antti; Kemppainen, Susanna; Juopperi, Sini-Pauliina; Sinisalo, Rosa; Pesola, Alli; Soininen, Hilkka; Hiltunen, Mikko; Leinonen, Ville; Rauramaa, Tuomas; Martiskainen, Henna. 2024. Journal of neuropathology and experimental neurology. 83: 967-978 A1 Journal article (refereed), original research

Exploring the Association Between Visual Field Testing and CERAD Neuropsychological Battery in Idiopathic Normal Pressure Hydrocephalus Patients

Kemiläinen, Benjam; Tiainen, Sonja; Rauramaa, Tuomas; Luikku, Antti J; Herukka, Sanna-Kaisa; Koivisto, Anne; Hiltunen, Mikko; Verdooner, Steven; Johnson, Ken; Chambers, Mieko; Kaarniranta, Kai; Leinonen, Ville. 2024. Journal of Alzheimer's disease. 100: 247-260 A1 Journal article (refereed), original research

Human iPSC-derived pericyte-like cells carrying APP Swedish mutation overproduce beta-amyloid and induce cerebral amyloid angiopathy-like changes

Wu, Ying-Chieh; Lehtonen, Šárka; Trontti, Kalevi; Kauppinen, Riitta; Kettunen, Pinja; Leinonen, Ville; Laakso, Markku; Kuusisto, Johanna; Hiltunen, Mikko; Hovatta, Iiris; Freude, Kristine; Dhungana, Hiramani; Koistinaho, Jari; Rolova, Taisia. 2024. Fluids and barriers of the cns. 21: . 78 A1 Journal article (refereed), original research

Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort

Räsänen, Joel; Heikkinen, Sami; Mäklin, Kiira; Lipponen, Anssi; Kuulasmaa, Teemu; Mehtonen, Juha; Korhonen, Ville E; Junkkari, Antti; Grenier-Boley, Benjamin; Bellenguez, Celine; Oinas, Minna; Avellan, Cecilia; Frantzén, Janek; Kotkansalo, Anna; Rinne, Jaakko; Ronkainen, Antti; Kauppinen, Mikko; von und zu Fraunberg, Mikael; Lönnrot, Kimmo; Satopää, Jarno; Perola, Markus; Koivisto, Anne M; Julkunen, Valtteri; Portaankorva, Anne M; Mannermaa, Arto; Soininen, Hilkka; Helisalmi, Seppo; Jääskeläinen. 2024. Neurology. 103: A1 Journal article (refereed), original research

TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease

Vuoksimaa, Eero; Saari, Toni T; Aaltonen, Aino; Aaltonen, Sari; Herukka, Sanna-Kaisa; Iso-Markku, Paula; Kokkola, Tarja; Kyttälä, Aija; Kärkkäinen, Sari; Liedes, Hilkka; Ollikainen, Miina; Palviainen, Teemu; Ruotsalainen, Ilona; Toivola, Auli; Urjansson, Mia; Vasankari, Tommi; Vähä-Ypyä, Henri; Forsberg, Markus M; Hiltunen, Mikko; Jalanko, Anu; Kälviäinen, Reetta; Kuopio, Teijo; Lähteenmäki, Jaakko; Nyberg, Pia; Männikkö, Minna; Serpi, Raisa; Siltanen, Sanna; Palotie, Aarno; Kaprio, Jaakko; Runz. 2024. BMJ open. 14: A1 Journal article (refereed), original research

X‐chromosome-wide association study for Alzheimer’s disease

Le Borgne, Julie; Gomez, Lissette; Heikkinen, Sami; Amin, Najaf; Ahmad, Shahzad; Choi, Seung Hoan; Bis, Joshua; Grenier-Boley, Benjamin; Garcia Rodriguez, Omar; Kleineidam, Luca; Young, Juan; Tripathi, Kumar Parijat; Wang, Lily; Varma, Achintya; Campos-Martin, Rafael; van der Lee, Sven; Damotte, Vincent; de Rojas, Itziar; Palmal, Sagnik; EADB; GR@ACE; DEGESCO; EADI; GERAD; DemGene; FinnGen; ADGC; CHARGE; Lipton, Richard; Reiman, Eric; McKee, Ann; De Jager, Philip; Bush, William; Small, Scott; Le. 2024. Molecular psychiatry. [Published: 04 December 2024]: 1-12 A1 Journal article (refereed), original research

A FinnGen pilot clinical recall study for Alzheimer’s disease

Julkunen, Valtteri; Schwarz, Claudia; Kalapudas, Juho; Hallikainen, Merja; Piironen, Aino-Kaisa; Mannermaa, Arto; Kujala, Hanna; Laitinen, Timo; Kosma, Veli-Matti; Paajanen, Teemu I.; Kälviäinen, Reetta; Hiltunen, Mikko; Herukka, Sanna-Kaisa; Kärkkäinen, Sari; Kokkola, Tarja; Urjansson, Mia; FinnGen; Perola, Markus; Palotie, Aarno; Vuoksimaa, Eero; Runz, Heiko. 2023. Scientific reports. 13: . 12641 A1 Journal article (refereed), original research

Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status

Le Borgne, Julie; Amouyel, Philippe; Andreassen, Ole; Frikke-Schmidt, Ruth; Hiltunen, Mikko; Ingelsson, Martin; Ramirez, Alfredo; Rossi, Giacomina; Ruiz, Agustin; Sanchez-Juan, Pascual; Sims, Rebecca; Sleegers, Kristel; Tsolaki, Magda; van der Lee, Sven J.; Williams, Julie; Lambert, Jean Charles; Bellenguez, Céline. 2023. Alzheimer's & dementia. 2024; 20: 2282-2284 B1 Non-refereed journal articles

Cerebrospinal Fluid Diagnostics of Alzheimer's Disease in Patients with Idiopathic Normal Pressure Hydrocephalus

Vanninen, Aleksi; Lukkarinen, Heikki; Kokkola, Tarja; Koivisto, Anne M.; Kokki, Merja; Musialowicz, Tadeusz; Hiltunen, Mikko; Zetterberg, Henrik; Leinonen, Ville; Herukka, Sanna Kaisa; Rauramaa, Tuomas. 2023. Journal of Alzheimer's disease. 94: 727-736 A1 Journal article (refereed), original research

Cognitive and biomarker responses in healthy older adults to a 18-hole golf round and different walking types: a randomised cross-over study

Kettinen, Julia; Tikkanen, Heikki; Hiltunen, Mikko; Murray, Andrew; Horn, Nils; Taylor, William R; Venojärvi, Mika. 2023. BMJ open sport & exercise medicine. 9: A1 Journal article (refereed), original research

Concordance of Alzheimer’s Disease-Related Biomarkers Between Intraventricular and Lumbar Cerebrospinal Fluid in Idiopathic Normal Pressure Hydrocephalus

Lukkarinen, Heikki; Vanninen, Aleksi; Tesseur, Ina; Pemberton, Darrel; Van Der Ark, Peter; Kokkola, Tarja; Herukka, Sanna-Kaisa; Rauramaa, Tuomas; Hiltunen, Mikko; Blennow, Kaj; Zetterberg, Henrik; Leinonen, Ville. 2023. Journal of Alzheimer's disease. 91: 305-319 A1 Journal article (refereed), original research

Early Alzheimer's disease pathology in human cortex involves transient cell states

Gazestani, Vahid; Kamath, Tushar; Nadaf, Naeem M; Dougalis, Antonios; Burris, SJ; Rooney, Brendan; Junkkari, Antti; Vanderburg, Charles; Pelkonen, Anssi; Gomez-Budia, Mireia; Välimäki, Nelli Noora; Rauramaa, Tuomas; Therrien, Martine; Koivisto, Anne M; Tegtmeyer, Matthew; Herukka, Sanna Kaisa; Abdulraouf, Abdulraouf; Marsh, Samuel E; Hiltunen, Mikko; Nehme, Ralda; Malm, Tarja; Stevens, Beth; Leinonen, Ville; Macosko, Evan Z. 2023. Cell. 186: 4438-4453.e23 A1 Journal article (refereed), original research

Gene Expression Profile as a Predictor of Seizure Liability

Lipponen, Anssi; Kajevu, Natallie; Natunen, Teemu; Ciszek, Robert; Puhakka, Noora; Hiltunen, Mikko; Pitkänen, Asla. 2023. International journal of molecular sciences. 24: A1 Journal article (refereed), original research

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Le Guen, Yann; Luo, Guo; Ambati, Aditya; Damotte, Vincent; Jansen, Iris; Yu, Eric; Nicolas, Aude; de Rojas, Itziar; Peixoto Leal, Thiago; Miyashita, Akinori; Bellenguez, Céline; Lian, Michelle Mulan; Parveen, Kayenat; Morizono, Takashi; Park, Hyeonseul; Grenier-Boley, Benjamin; Naito, Tatsuhiko; Küçükali, Fahri; Talyansky, Seth D.; Yogeshwar, Selina Maria; Sempere, Vicente; Satake, Wataru; Alvarez, Victoria; Arosio, Beatrice; Belloy, Michael E.; Benussi, Luisa; Boland, Anne; Borroni, Barbara; Bu. 2023. Proceedings of the National Academy of Sciences of the United States of America. 120: . e2302720120 A1 Journal article (refereed), original research

Normaalipaineisen hydrokefaluksen arvoitus

Leinonen, Ville; Hiltunen, Mikko. 2023. Duodecim. 139: 340-342 D1 Article in a trade journal

Organotypic Hippocampal Slice Cultures from Adult Tauopathy Mice and Theragnostic Evaluation of Nanomaterial Phospho-TAU Antibody-Conjugates

Kemppainen, Susanna; Huber, Nadine; Willman, Roosa-Maria; Zamora, Ana; Makinen, Petra; Martiskainen, Henna; Takalo, Mari; Haapasalo, Annakaisa; Sobrino, Tomas; Gomez, Manuel Antonio Gonzalez; Pineiro, Yolanda; Rivas, Jose; Himmelreich, Uwe; Hiltunen, Mikko. 2023. Cells. 12: A1 Journal article (refereed), original research

Protective Alzheimer's disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models

Wittrahm, Rebekka; Takalo, Mari; Kuulasmaa, Teemu; Mäkinen, Petra M; Mäkinen, Petri; Končarević, Saša; Fartzdinov, Vadim; Selzer, Stefan; Kokkola, Tarja; Antikainen, Leila; Martiskainen, Henna; Kemppainen, Susanna; Marttinen, Mikael; Jeskanen, Heli; Rostalski, Hannah; Rahunen, Eija; Kivipelto, Miia; Ngandu, Tiia; Natunen, Teemu; Lambert, Jean-Charles; Tanzi, Rudolph E; Kim, Doo Yeon; Rauramaa, Tuomas; Herukka, Sanna-Kaisa; Soininen, Hilkka; Laakso, Markku; Pike, Ian; Leinonen, Ville; Haapasalo, . 2023. Neurobiology of disease. 182: A1 Journal article (refereed), original research

Treatment of Status Epilepticus after Traumatic Brain Injury Using an Antiseizure Drug Combined with a Tissue Recovery Enhancer Revealed by Systems Biology

Kajevu, Natallie; Lipponen, Anssi; Andrade, Pedro; Bañuelos, Ivette; Puhakka, Noora; Hämäläinen, Elina; Natunen, Teemu; Hiltunen, Mikko; Pitkänen, Asla. 2023. International journal of molecular sciences. 24: . 14049 A1 Journal article (refereed), original research

Alzheimerin taudin hoidossa ollaan lähellä läpimurtoa

Hiltunen, Mikko; Pajunen, Jenni. 2022. Helsingin Sanomat. : A5 E1 Popularised article, newspaper article

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

Le Guen, Yann; Belloy, Michael E.; Grenier-Boley, Benjamin; de Rojas, Itziar; Castillo-Morales, Atahualpa; Jansen, Iris; Nicolas, Aude; Bellenguez, Céline; Dalmasso, Carolina; Küçükali, Fahri; Eger, Sarah J.; Rasmussen, Katrine Laura; Thomassen, Jesper Qvist; Deleuze, Jean-François; He, Zihuai; Napolioni, Valerio; Amouyel, Philippe; Jessen, Frank; Kehoe, Patrick G.; van Duijn, Cornelia; Tsolaki, Magda; Sánchez-Juan, Pascual; Sleegers, Kristel; Ingelsson, Martin; Rossi, Giacomina; Hiltunen, Mikko. 2022. JAMA neurology. 79: A1 Journal article (refereed), original research

Cerebrospinal fluid biomarkers that reflect clinical symptoms in idiopathic normal pressure hydrocephalus patients

Lukkarinen, Heikki; Jeppsson, Anna; Wikkelsö, Carsten; Blennow, Kaj; Zetterberg, Henrik; Constantinescu, Radu; Remes, Anne M.; Herukka, Sanna-Kaisa; Hiltunen, Mikko; Rauramaa, Tuomas; Nägga, Katarina; Leinonen, Ville; Tullberg, Mats. 2022. Fluids and barriers of the cns. 19: . 11 A1 Journal article (refereed), original research

Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping

Belloy, Michael E.; Eger, Sarah J.; Le Guen, Yann; Damotte, Vincent; Ahmad, Shahzad; Ikram, M. Arfan; Ramirez, Alfredo; Tsolaki, Anthoula C.; Rossi, Giacomina; Jansen, Iris E.; de Rojas, Itziar; Parveen, Kayenat; Sleegers, Kristel; Ingelsson, Martin; Hiltunen, Mikko; Amin, Najaf; Andreassen, Ole; Sánchez-Juan, Pascual; Kehoe, Patrick; Amouyel, Philippe; Sims, Rebecca; Frikke-Schmidt, Ruth; van der Flier, Wiesje M.; Lambert, Jean-Charles; He, Zihuai; Han, Summer S.; Napolioni, Valerio; Greicius, . 2022. Alzheimer's research and therapy. 14: . 22 A1 Journal article (refereed), original research

Enhanced drug delivery by a prodrug approach effectively relieves neuroinflammation in mice

Montaser, Ahmed B.; Kuiri, Janita; Natunen, Teemu; Hruška, Pavel; Potěšil, David; Auriola, Seppo; Hiltunen, Mikko; Terasaki, Tetsuya; Lehtonen, Marko; Jalkanen, Aaro; Huttunen, Kristiina M. 2022. Life sciences. 310: A1 Journal article (refereed), original research

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Jansen, Iris E.; van der Lee, Sven J.; Gomez-Fonseca, Duber; de Rojas, Itziar; Dalmasso, Maria Carolina; Grenier-Boley, Benjamin; Zettergren, Anna; Mishra, Aniket; Ali, Muhammad; Andrade, Victor; Bellenguez, Céline; Kleineidam, Luca; Küçükali, Fahri; Sung, Yun Ju; Tesí, Niccolo; Vromen, Ellen M.; Wightman, Douglas P.; Alcolea, Daniel; Alegret, Montserrat; Alvarez, Ignacio; Amouyel, Philippe; Athanasiu, Lavinia; Bahrami, Shahram; Bailly, Henri; Belbin, Olivia; Bergh, Sverre; Bertram, Lars; Biesse. 2022. Acta neuropathologica. 144: 821-842 A1 Journal article (refereed), original research

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Ruotsalainen, Sanni E.; Surakka, Ida; Mars, Nina; Karjalainen, Juha; Kurki, Mitja; Kanai, Masahiro; Krebs, Kristi; Graham, Sarah; Mishra, Pashupati P.; Mishra, Binisha H.; Sinisalo, Juha; Palta, Priit; Lehtimäki, Terho; Raitakari, Olli; Esko, Tõnu; Metspalu, Andres; Mägi, Reedik; Nelis, Mari; Milani, Lili; Matsuda, Koichi; Yamanashi, Yuji; Furukawa, Yoichi; Morisaki, Takayuki; Murakami, Yoshinori; Kamatani, Yoichiro; Muto, Kaori; Nagai, Akiko; Obara, Wataru; Yamaji, Ken; Takahashi, Kazuhisa; Asa. 2022. Communications biology. 5: . 802 A1 Journal article (refereed), original research

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Sazonovs, Aleksejs; Stevens, Christine R.; Venkataraman, Guhan R.; Yuan, Kai; Avila, Brandon; Abreu, Maria T.; Ahmad, Tariq; Allez, Matthieu; Ananthakrishnan, Ashwin N.; Atzmon, Gil; Baras, Aris; Barrett, Jeffrey C.; Barzilai, Nir; Beaugerie, Laurent; Beecham, Ashley; Bernstein, Charles N.; Bitton, Alain; Bokemeyer, Bernd; Chan, Andrew; Chung, Daniel; Cleynen, Isabelle; Cosnes, Jacques; Cutler, David J.; Daly, Allan; Damas, Oriana M.; Datta, Lisa W.; Dawany, Noor; Devoto, Marcella; Dodge, Sheila. 2022. Nature genetics. 54: 1275-1283 A1 Journal article (refereed), original research

NDUFA1 p.Gly32Arg variant in early-onset dementia

Huttula, Samuli; Väyrynen, Henri; Helisalmi, Seppo; Kytövuori, Laura; Luukkainen, Laura; Hiltunen, Mikko; Remes, Anne M; Krüger, Johanna. 2022. Neurobiology of aging. 114: 113-116 A1 Journal article (refereed), original research

Neuropathological findings in possible normal pressure hydrocephalus: A post-mortem study of 29 cases with lifelines

Hänninen, JJ; Nakajima, M; Vanninen, A; Hytönen, S; Rummukainen, J; Koivisto, AM; Jääskeläinen, JE; Soininen, H; Sutela, A; Vanninen, R; Hiltunen, M; Leinonen, V; Rauramaa, T. 2022. Free neuropathology. 3: 1-17 A1 Journal article (refereed), original research

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Bellenguez, Céline; Küçükali, Fahri; Jansen, Iris E.; Kleineidam, Luca; Moreno-Grau, Sonia; Amin, Najaf; Naj, Adam C.; Campos-Martin, Rafael; Grenier-Boley, Benjamin; Andrade, Victor; Holmans, Peter A.; Boland, Anne; Damotte, Vincent; van der Lee, Sven J.; Costa, Marcos R.; Kuulasmaa, Teemu; Yang, Qiong; de Rojas, Itziar; Bis, Joshua C.; Yaqub, Amber; Prokic, Ivana; Chapuis, Julien; Ahmad, Shahzad; Giedraitis, Vilmantas; Aarsland, Dag; Garcia-Gonzalez, Pablo; Abdelnour, Carla; Alarcón-Martín, Em. 2022. Nature genetics. 54: 412-436 A1 Journal article (refereed), original research

A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population

Rostalski, H; Korhonen, V; Kuulasmaa, T; Solje, E; Krüger, J; Gen, F; Kaivola, K; Eide, PK; Lambert, JC; Julkunen, V; Tienari, PJ; Remes, AM; Leinonen, V; Hiltunen, M; Haapasalo, A. 2021. Journal of Alzheimer's disease. 83: 1325-1332 A1 Journal article (refereed), original research

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Gudmundsson, Sanna; Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace; Cummings, Beryl B.; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L.; Laricchia, Kristen M.; Ganna, Andrea; Birnbaum, Daniel P.; Gauthier, Laura D.; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A.; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M.; Seaby, Eleanor G.; Kosmicki, Jack A. et al [incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2021. Nature. 597: E3-E4 B1 Non-refereed journal articles

Alzheimerin taudin uudet riskigeenit - keskiössä mikrogliasolut

Martiskainen, Henna; Takalo, Mari; Konttinen, Henna; Malm, Tarja; Haapasalo, Annakaisa; Leinonen, Ville; Hiltunen, Mikko. 2021. Duodecim. 137: 1375- 1382 A2 Review article, Literature review, Systematic review

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Ruotsalainen, Sanni E.; Partanen, Juulia J.; Cichonska, Anna; Lin, Jake; Benner, Christian; Surakka, Ida; FinnGen [incl. Hiltunen, Mikko]; Reeve, Mary Pat; Palta, Priit; Salmi, Marko; Jalkanen, Sirpa; Ahola-Olli, Ari; Palotie, Aarno; Salomaa, Veikko; Daly, Mark J; Pirinen, Matti; Ripatti, Samuli; Koskela, Jukka. 2021. European journal of human genetics. 29: 309-324 A1 Journal article (refereed), original research

Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population

Liuska, PJ; Lemmelä, S; Havulinna, AS; Kaarniranta, K; Uusitalo, H; Laivuori, H; Kiiskinen, T; Daly, MJ; Palotie, A; Turunen, JA. 2021. JAMA ophthalmology. 139: 762-768 A1 Journal article (refereed), original research

C9orf72 hexanucleotide repeat expansion leads to altered neuronal and dendritic spine morphology and synaptic dysfunction

Huber, Nadine; Hoffmann, Dorit; Giniatullina, Raisa; Rostalski, Hannah; Leskelä, Stina; Takalo, Mari; Natunen, Teemu; Solje, Eino; Remes, Anne M.; Giniatullin, Rashid; Hiltunen, Mikko; Haapasalo, Annakaisa. 2021. Neurobiology of disease. 2022; 162: 105584 A1 Journal article (refereed), original research

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Natarajan, Pradeep; Pampana, Akhil; Graham, Sarah E; Ruotsalainen, Sanni E; Perry, James A; de Vries, Paul S;. Broome, Jai G; Pirruccello, James P; Honigberg, Michael C; Aragam, Krishna; Wolford, Brooke; Brody, Jennifer A; Antonacci-Fulton, Lucinda; Arden, Moscati; Aslibekyan, Stella; Assimes, Themistocles L; Ballantyne, Christie M; Bielak, Lawrence F; Bis, Joshua C.; Cade, Brian E; et al. [incl. FinGen; Kosma, Veli-Matti; Mannermaa, Arto]. 2021. Nature communications. 12: 2182 A1 Journal article (refereed), original research

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

de Rojas, I; Moreno-Grau, S; Tesi, N; Grenier-Boley, B; Andrade, V; Jansen, IE; Pedersen, NL; Stringa, N; Zettergren, A; Hernández, I; Montrreal, L; Antúnez, C; Antonell, A; Tankard, RM; Bis, JC; Sims, R; Bellenguez, C; Quintela, I; González-Perez, A; Calero, M; et al; [incl. Haapasalo, A; Soininen, H; Lehtisalo, J; Kivipelto, M; Kuulasmaa, T; Hiltunen, M]. 2021. Nature communications. 12: 3417 A1 Journal article (refereed), original research

Elevated CSF LRG and Decreased Alzheimer's Disease Biomarkers in Idiopathic Normal Pressure Hydrocephalus

Vanninen, Aleksi; Nakajima, Madoka; Miyajima, Masakazu; Rauramaa, Tuomas; Kokki, Merja; Musialowicz, Tadeusz; Mäkinen, Petra M; Herukka, Sanna-Kaisa; Koivisto, Anne M; Jääskeläinen, Juha E; Hiltunen, Mikko; Leinonen, Ville. 2021. Journal of clinical medicine. 10: 1105 A1 Journal article (refereed), original research

Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cells

Leskelä, Stina; Huber, Nadine; Hoffmann, Dorit; Rostalski, Hannah; Remes, Anne M; Takalo, Mari; Hiltunen, Mikko; Haapasalo, Annakaisa. 2021. Biochimica et biophysica acta: molecular cell research. 1868: 119021 A1 Journal article (refereed), original research

FTLD Patient-Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62

Leskelä, S; Hoffmann, D; Rostalski, H; Huber, N; Wittrahm, R; Hartikainen, P; Korhonen, V; Leinonen, V; Hiltunen, M; Solje, E; Remes, AM; Haapasalo, A. 2021. Molecular neurobiology. 58: 5438-5458 A1 Journal article (refereed), original research

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Gharahkhani, Puya; Jorgenson, Eric; Hysi, Pirro; Khawaja, Anthony P; Pendergrass, Sarah; Han, Xikun; Ong, Jue Sheng; Hewitt, Alex W; Segrè, Ayellet V; Rouhana, John M; Hamel, Andrew R; Igo, Robert P; Choquet, Helene; Qassim, Ayub; Josyula, Navya S; Cooke Bailey, Jessica N; Bonnemaijer, Pieter W M; Iglesias, Adriana; Siggs, Owen M; Young, Terri L et al. [incl FinGen; Mannermaa, Arto; Heikkinen, Sami; Kosma, Veli-Matti]. 2021. Nature communications. 12: 1258 A1 Journal article (refereed), original research

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Zekavat, Seyedeh M.; Lin, Shu-Hong; Bick, Alexander G.; Liu, Aoxing; Paruchuri, Kaavya; Wang, Chen; Uddin, Md Mesbah; Ye, Yixuan; Yu, Zhaolong; Liu, Xiaoxi; Kamatani, Yoichiro; Bhattacharya, Romit; Pirruccello, James P.; Pampana, Akhil; Loh, Po-Ru; Kohli, Puja; McCarroll, Steven A.; Kiryluk, Krzysztof; Neale, Benjamin; Ionita-Laza, Iuliana et al. [incl. Mannermaa, Arto; Heikkinen, Sami; Kosma, Veli-Matti]. 2021. Nature medicine. 27: 1012-1024 A1 Journal article (refereed), original research

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MECP2 Increases the Pro-Inflammatory Response of Microglial Cells and Phosphorylation at Serine 423 Regulates Neuronal Gene Expression upon Neuroinflammation

Wittrahm, Rebekka; Takalo, Mari; Marttinen, Mikael; Kuulasmaa, Teemu; Mäkinen, Petra; Kemppainen, Susanna; Martiskainen, Henna; Rauramaa, Tuomas; Pike, Ian; Leinonen, Ville; Natunen, Teemu; Haapasalo, Annakaisa; Hiltunen, Mikko. 2021. Cells. 10: 860 A1 Journal article (refereed), original research

Mikrogliasolut hoidon kohteeksi hermoston rappeumasairauksissa

Tienari, Pentti; Tanila, Heikki; Hiltunen, Mikko. 2021. Duodecim. 137: 1909-1911 D1 Article in a trade journal

Novel Rare SORL1 Variants in Early-Onset Dementia

Korpioja, Anita; Krüger, Johanna; Koivuluoma, Susanna; Pylkäs, Katri; Moilanen, Virpi; Helisalmi, Seppo; Hiltunen, Mikko; Remes, Anne M; Zhu, Ling-Qiang. 2021. Journal of Alzheimer's disease. 82: 761-770 A1 Journal article (refereed), original research

S327 phosphorylation of the presynaptic protein SEPTIN5 increases in the early stages of neurofibrillary pathology and alters the functionality of SEPTIN5

Ferreira, Catarina B.; Marttinen, Mikael; Coelho, Joana E.; Paldanius, Kaisa M.A.; Takalo, Mari; Mäkinen, Petra; Leppänen, Luukas; Miranda-Lourenço, Catarina; Fonseca-Gomes, João; Tanqueiro, Sara R.; Vaz, Sandra H.; Belo, Rita F.; Sebastião, Ana Maria; Leinonen, Ville; Soininen, Hilkka; Pike, Ian; Haapasalo, Annakaisa; Lopes, Luísa V.; de Mendonça, Alexandre; Diógenes, Maria José; Hiltunen, Mikko. 2021. Neurobiology of disease. 2022; 163: 105603 A1 Journal article (refereed), original research

Sleep apnoea is a risk factor for severe COVID-19

Strausz, Satu; Kiiskinen, Tuomo; Broberg, Martin; Ruotsalainen, Sanni; Koskela, Jukka; Bachour, Adel; FinnGen [incl. Hiltunen, Mikko]; Palotie, Aarno; Palotie, Tuula; Ripatti, Samuli; Ollila, Hanna M.. 2021. BMJ open respiratory research. 8: e000845 A1 Journal article (refereed), original research

Targeting Oxidative Stress with Antioxidant Duotherapy after Experimental Traumatic Brain Injury

Kyyriäinen, Jenni; Kajevu, Natallie; Bañuelos, Ivette; Lara, Leonardo; Lipponen, Anssi; Balosso, Silvia; Hämäläinen, Elina; Das Gupta, Shalini; Puhakka, Noora; Natunen, Teemu; Ravizza, Teresa; Vezzani, Annamaria; Hiltunen, Mikko; Pitkänen, Asla. 2021. International journal of molecular sciences. 22: 10555 A1 Journal article (refereed), original research

The CERAD Neuropsychological Battery in Patients with Idiopathic Normal Pressure Hydrocephalus Compared with Normal Population and Patients with Mild Alzheimer's Disease

Nerg, Ossi; Junkkari, Antti; Hallikainen, Ilona; Rauramaa, Tuomas; Luikku, Antti; Hiltunen, Mikko; Jääskeläinen, Juha E.; Leinonen, Ville; Hänninen, Tuomo; Koivisto, Anne;. 2021. Journal of Alzheimer's disease. 81: 1117-1130 A1 Journal article (refereed), original research

Time Trends of Cerebrospinal Fluid Biomarkers of Neurodegeneration in Idiopathic Normal Pressure Hydrocephalus

Lukkarinen, Heikki; Tesseur, Ina; Pemberton, Darrel; Van Der Ark, Peter; Timmers, Maarten; Slemmon, Randy; Janssens, Luc; Streffer, Johannes; Van Nueten, Luc; Bottelbergs, Astrid; Rauramaa, Tuomas; Koivisto, Anne M.; Herukka, Sanna-Kaisa; Korhonen, Ville E.; Junkkari, Antti; Hiltunen, Mikko; Engelborghs, Sebastiaan; Blennowk, Kaj; Zetterbergk, Henrik; Kolb, Hartmuth C.; Leinonen, Ville. 2021. Journal of Alzheimer's disease. 80: 1629-1642 A1 Journal article (refereed), original research

iNPH - the mystery resolving

Leinonen, Ville; Kuulasmaa, Teemu; Hiltunen, Mikko. 2021. Embo molecular medicine. 13: e13720 B1 Non-refereed journal articles

A structural variation reference for medical and population genetics

Collins, Ryan L; Brand, Harrison; Karczewski, Konrad J; Zhao, Xuefang; Alföldi, Jessica; Francioli, Laurent C; Khera, Armit V; Lowther, Chelsea; Gauthier, Laura D; Wang, Harold; Watts, Nicholas A; Solomonson, Matthew; O'Donnell-Luria, Anne; Baumann, Alexander; Munshi, Ruchi; Walker, Mark; Whelan, Christopher W; Huang, Yongqing; Brookings, Ted; Sharpe, Ted; et al.; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; [Incl. Hiltunen, Mikko; Laakso, Markku; Soininen. 2020. Nature. 581: 444-451 A1 Journal article (refereed), original research

Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner

Eysert, Fanny; Coulon, Audrey; Boscher, Emmanuelle; Vreulx, Anais-Camille; Flaig, Amandine; Mendes, Tiago; Hughes, Sandrine; Grenier-Boley, Benjamin; Hanoulle, Xavier; Demiautte, Florie; Bauer, Charlotte; Marttinen, Mikael; Takalo, Mari; Amouyel, Philippe; Desai, Shruti; Pike, Ian; Hiltunen, Mikko; Chécler, Frédéric; Farinelli, Mélissa; Delay, Charlotte; et.al.. 2020. Molecular psychiatry. 2021; 26: 5592-5607 A1 Journal article (refereed), original research

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci

Rostalski, Hannah; Hietanen, Tomi; Leskelä, Stina; Behánová, Andrea; Abdollahzadeh, Ali; Wittrahm, Rebekka; Mäkinen, Petra; Huber, Nadine; Hoffmann, Dorit; Solje, Eino; Remes, Anne M; Natunen, Teemu; Takalo, Mari; Tohka, Jussi; Hiltunen, Mikko; Haapasalo, Annakaisa. 2020. Frontiers in neurology. 11: 550140 A1 Journal article (refereed), original research

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Whiffin, Nicola; Karczewski, Konrad J; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J; Evans, D Gareth; Roberts, Angharad M; Quaife, Nicholas M; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O'Donnell-Luria, Anne H; Francioli, Laurent C; Genome Aggregation Database Production Team, Genome Aggregation Database Consortium [Incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2020. Nature communications. 11: 2523 A1 Journal article (refereed), original research

Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case-control comparison with family members

Räsänen, Joel; Huovinen, Joel; Korhonen, Ville E; Junkkari, Antti; Kastinen, Sami; Komulainen, Simo; Oinas, Minna; Avellan, Cecilia; Frantzen, Janek; Rinne, Jaakko; Ronkainen, Antti; Kauppinen, Mikko; Lönnrot, Kimmo; Perola, Markus; Koivisto, Anne M; Remes, Anne M; Soininen, Hilkka; Hiltunen, Mikko; Helisalmi, Seppo; Kurki, Mitja I [et al. incl. Jääskeläinen, Juha E: Leinonen, Ville]. 2020. Fluids and barriers of the cns. 17: 57 A1 Journal article (refereed), original research

Diabetic phenotype in mouse and humans reduces the number of microglia around ß-amyloid plaques

Natunen, Teemu; Martiskainen, Henna; Marttinen, Mikael; Gabbouj, Sami; Koivisto, Hennariikka; Kemppainen, Susanna; Kaipainen, Satu; Takalo, Mari; Svobodová, Helena; Leppänen, Luukas; Kemiläinen, Benjam; Ryhänen, Simo; Kuulasmaa, Teemu: Rahunen, Eija: Juutinen, Sisko; Mäkinen, Petra; Miettinen, Pasi; Rauramaa, Tuomas; Pihlajamäki, Jussi; Haapasalo, Annakaisa; et al [incl. Leinonen, Ville; Tanila, Heikki; Hiltunen, Mikko]. 2020. Molecular neurodegeneration. 15: 66 A1 Journal article (refereed), original research

Evaluating drug targets through human loss-of-function genetic variation

Minikel, Eric Vallabh; Karczewski, Konrad J; Martin, Hilary C; Cummings, Beryl B; Whiffin, Nicola; Rhodes, Daniel; Alföldi, Jessica; Trembath, Richard C; van Heel, David A; Daly, Mark J; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Schreiber, Stuart L; MacArthur, Daniel G [Incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2020. Nature. 581: 459-464 A1 Journal article (refereed), original research

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Wang, Qingbo; Pierce-Hoffman, Emma; Cumings, Beryl B; Alföldi, Jessica; Francioli, Laurent C; Gauthier, Laura D; Hill, Andrew J; O'Donnell-Luria, Anne H; Genome Aggregation Database Production Team, Genome Aggregation Database Consortium [Incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2020. Nature communications. 11: 2539 A1 Journal article (refereed), original research

Metabolic Profiles Help Discriminate Mild Cognitive Impairment from Dementia Stage in Alzheimer's Disease.

Jääskeläinen, O; Hall, A; Tiainen, M; van Gils, M; Lötjönen, J; Kangas, AJ; Helisalmi, S; Pikkarainen, M; Hallikainen, M; Koivisto, A; Hartikainen, P; Hiltunen, M; Ala-Korpela, M; Soininen, P; Soininen, H; Herukka, S-K. 2020. Journal of Alzheimer's disease. 74: 277-286 A1 Journal article (refereed), original research

Mutation Analysis of the Genes Associated With Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia

Luukkainen, L; Huttula, S; Väyrynen, H; Helisalmi, S; Kytövuori, L; Haapasalo, A; Hiltunen, M; Remes, AM; Krüger, J. 2020. Journal of Alzheimer's disease. 76: 955-965 A1 Journal article (refereed), original research

PTPR type Q in cerebrospinal fluid reflects ependymal cells dysfunction and is a potential biomarker for adult chronic hydrocephalus

Nakajima, Madoka; Rauramaa, Tuomas; Mäkinen, Petra M; Hiltunen, Mikko; Herukka, Sanna-Kaisa; Kokki, Merja; Musialowicz, Tadeusz; Jyrkkänen, Henna-Kaisa; Danner, Nils; Junkkari, Antti; Koivisto, Anne M; Jääskeläinen, Juha E; Miyajima, Masakazu; Ogino, Ikuko; Furuta, Akiko; Akiba, Chihiro; Kawamura, Kaito; Kamohara, Chihiro; Sugano, Hidenori; Tange, Yuichi; et al. [incl. Leinonen, Ville]. 2020. European journal of neurology. 2021; 28: 389-400 A1 Journal article (refereed), original research

Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aß

Marttinen, Mikael; Ferreira, Catarina B; Paldanius, Kaisa M A; Takalo, Mari; Natunen, Teemu; Mäkinen, Petra; Leppänen, Luukas; Leinonen, Ville; Tanigaki, Kenji; Kang, Gina; Hiroi, Noboru; Soininen, Hilkka; Rilla, Kirsi; Haapasalo, Annakaisa; Hiltunen, Mikko. 2020. Cells. 9: 2482 A1 Journal article (refereed), original research

The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes immune functions

Takalo, Mari; Wittrahm, Rebekka; Wefers, Benedikt; Parhizkar, Samira; Jokivarsi, Kimmo; Kuulasmaa, Teemu; Mäkinen, Petra; Martiskainen, Henna; Wurst, Wolfgang; Xiang, Xianyuan; Marttinen, Mikael; Poutiainen, Pekka; Haapasalo, Annakaisa; Hiltunen, Mikko; Haass, Christian. 2020. Molecular neurodegeneration. 15: 52 A1 Journal article (refereed), original research

The effect of LRRK2 loss-of-function variants in humans

Whiffin, Nicola; Armean, Irina M; Kleinman, Aaron; Marshall, Jamie L; Minikel, Eric V; Goodrich, Julia K; Quaife, Nicholas M; Cole, Joanne B; Wang, Qingbo; Karczewski, Konrad J; Cummings, Beryl B; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco AS; Merchant, Kalpana M; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; et al.[Incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2020. Nature medicine. 26: 869-877 A1 Journal article (refereed), original research

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andre; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; et al.; Genome Aggregation Database Consortium [Incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2020. Nature. 581: 434-443 A1 Journal article (refereed), original research

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Mars, Nina; Widén, Elisabeth; Kerminen, Sini; Meretoja, Tuomo; Pirinen, Matti; Parolo, Pietro della Briotta; Palta, Priit; FinnGen, Palotie, Aarno; Kaprio, Jaakko; Joensuu, Heikki; Daly, Mark; Ripatti, Samuli [incl. Hiltunen, Mikko; Heikkinen, Sami; Julkunen, Valtteri; Kosma, Veli-Matti; Mannermaa, Arto; Kälviäinen, Reetta]. 2020. Nature communications. 11: 6383 A1 Journal article (refereed), original research

Transcript expression-aware annotation improves rare variant interpretation

Cummings, Beryl B; Karczewski, Konrad J; Kosmicki, Jack A; Seaby, Eleanor G; Watts, Nicholas A; Singer-Berk, Moriel; Mudge, Jonathan M; Karjalainen, Juha; Satterstrom, F Kyle; O'Donnell-Luria, Anne H; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Daly, Mark J; MacArthur, Daniel G; et al. [Incl. Hiltunen, Mikko; Laakso, Markku; Soininen, Hilkka]. 2020. Nature. 581: 452-458 A1 Journal article (refereed), original research

Altered Insulin Signaling in Alzheimer's Disease Brain - Special Emphasis on PI3K-Akt Pathway

Gabbouj, Sami; Ryhanen, Simo; Marttinen, Mikael; Wittrahm, Rebekka; Takalo, Mari; Kemppainen, Susanna; Martiskainen, Henna; Tanila, Heikki; Haapasalo, Annakaisa; Hiltunen, Mikko; Natunen, Teemu. 2019. Frontiers in neuroscience. 13: 629 A2 Review article, Literature review, Systematic review

Astrocytes and Microglia as Potential Contributors to the Pathogenesis of C9orf72 Repeat Expansion-Associated FTLD and ALS

Rostalski, Hannah; Leskelä, Stina; Huber, Nadine; Katisko, Kasper; Cajanus, Antti; Solje, Eino; Marttinen, Mikael; Natunen, Teemu; Remes, Anne M; Hiltunen, Mikko; Haapasalo, Annakaisa. 2019. Frontiers in neuroscience. 13: 486 A2 Review article, Literature review, Systematic review

BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

Sartori, M; Mendes, T; Desai, S; Lasorsa, A; Herledan, A; Malmanche, N; Mäkinen, P; Marttinen, M; Malki, I; Chapuis, J; Flaig, A; Vreulx, AC; Ciancia, M; Amouyel, P; Leroux, F; Déprez, B; Cantrelle, FX; Maréchal, D; Pradier, L; Hiltunen, M; et al.. 2019. Acta neuropathologica. 138: 631-652 A1 Journal article (refereed), original research

C9orf72 Proteins Regulate Autophagy and Undergo Autophagosomal or Proteasomal Degradation in a Cell Type-Dependent Manner

Leskelä, S; Huber, N; Rostalski, H; Natunen, T; Remes, AM; Takalo, M; Hiltunen, M; Haapasalo, A. 2019. Cells. 8: 1233 A1 Journal article (refereed), original research

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Tabassum, Rubina; Ramo, Joel T; Ripatti, Pietari; Koskela, Jukka T; Kurki, Mitja; Karjalainen, Juha; Palta, Priit; Hassan, Shabbeer; Nunez-Fontarnau, Javier; Kiiskinen, Tuomo T J; Söderlund, Sanni; Matikainen, Niina; Gerl, Mathias J; Surma, Michal A; Klose, Christian; Stitziel, Nathan O; Laivuori, Hannele; Havulinna, Aki S; Service, Susan K; Salomaa, Veikko et al. (Incl Mannermaa, Arto; Heikkinen, Sami; Kosma, Veli-Matti; Soininen, Hilkka; Kälviäinen, Reetta). 2019. Nature communications. 10: 4329 A1 Journal article (refereed), original research

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aß, tau, immunity and lipid processing

Kunkle, BW; Grenier-Boley, B; Sims, R; Bis, JC; Damotte, V; Naj, AC; Boland, A; Vronskaya, M; van der Lee, S; Amlie-Wolf, A; Bellenguez, C; Frizatti, A; Chouraki, V; Martin, ER; Sleegers, K; Badarinarayan, N; Jakobsdottir, J; Hamilton-Nelson, KL; Moreno-Grau, S; Olaso R; et al. (Incl. Hiltunen, Mikko; Haapasalo; Annakaisa; Helisalmi, Seppo; Koivisto, Anne; Soininen, Hilkka). 2019. Nature genetics. 51: 414-430 A1 Journal article (refereed), original research

In Vitro and In Vivo Pipeline for Validation of Disease-Modifying Effects of Systems Biology-Derived Network Treatments for Traumatic Brain Injury - Lessons Learned

Lipponen, A; Natunen, T; Hujo, M; Ciszek, R; Hämäläinen, E; Tohka, J; Hiltunen, M; Paananen, J; Poulsen, D; Kansanen, E; Ekolle Ndode-Ekane, X; Levonen, AL; Pitkänen, A. 2019. International journal of molecular sciences. 20: 5395 A1 Journal article (refereed), original research

L-Type Amino Acid Transporter 1 (LAT1/Lat1)-Utilizing Prodrugs Can Improve the Delivery of Drugs into Neurons, Astrocytes and Microglia

Huttunen J, Peltokangas S, Gynther M, Natunen T, Hiltunen M, Auriola S, Ruponen M, Vellonen KS, Huttunen KM. 2019. Scientific reports. 9: 12860 A1 Journal article (refereed), original research

Low Serum High-Density Lipoprotein Cholesterol Levels Associate with the C9orf72 Repeat Expansion in Frontotemporal Lobar Degeneration Patients

Jääskeläinen, O; Solje, E; Hall, A; Katisko, K; Korhonen, V; Tiainen, M; Kangas, AJ; Helisalmi, S; Pikkarainen, M; Koivisto, A; Hartikainen, P; Hiltunen, M; Ala-Korpela, M; Soininen, H; Soininen, P; Haapasalo, A; Remes, AM; Herukka, SK. 2019. Journal of Alzheimer's disease. 72: 127-137 A1 Journal article (refereed), original research

Mutation Analysis of the Genes Linked to Early Onset Alzheimer's Disease and Frontotemporal Lobar Degeneration

Luukkainen, L; Helisalmi, S; Kytövuori, L; Ahmasalo, R; Solje, E; Haapasalo, A; Hiltunen, M; Remes, AM; Krüger, J. 2019. Journal of Alzheimer's disease. 69: 775-782 A1 Journal article (refereed), original research

Normaalipaineisen hydrokefaluksen kliininen kuva, diagnostiset tutkimukset ja hoito

Leinonen, Ville; Junkkari, Antti; Rauramaa, Tuomas; Jääskeläinen, Juha E; Vanninen, Ritva; Savolainen, Sakari; Hiltunen, Mikko; Remes, Anne M; Koivisto, Anne M. 2019. Duodecim. 135: 265-273 A2 Review article, Literature review, Systematic review

Predicting Development of Alzheimer's Disease in Patients with Shunted Idiopathic Normal Pressure Hydrocephalus

Luikku, AJ; Hall, A; Nerg, O; Koivisto, AM; Hiltunen, M; Helisalmi, S; Herukka, SK; Junkkari, A; Sutela, A; Kojoukhova, M; Korhonen, V; Mattila, J; Lötjönen, J; Rummukainen, J; Alafuzoff, I; Jääskeläinen, JE; Remes, AM; Solomon, A; Kivipelto, M; Soininen, H; et al. [Incl. Rauramaa, T; Leinonen, V]. 2019. Journal of Alzheimer's disease. 71: 1233-1243 A1 Journal article (refereed), original research

Prevalence of C9ORF72 Expansion in a Large Series of Patients with Idiopathic Normal-Pressure Hydrocephalus

Korhonen, VE; Remes, AM; Helisalmi, S; Rauramaa, T; Sutela, A; Vanninen, R; Suhonen, NM; Haapasalo, A; Hiltunen, M; Jääskeläinen, JE; Soininen, H; Koivisto, AM; Leinonen, V. 2019. Dementia and geriatric cognitive disorders. 47: 91-103 A1 Journal article (refereed), original research

Supervised pathway analysis of blood gene expression profiles in Alzheimer's disease

Moradi, E; Marttinen, M; Häkkinen, T; Hiltunen, M; Nykter, M. 2019. Neurobiology of aging. 84: 98-108 A1 Journal article (refereed), original research

Using online game-based platforms to improve student performance and engagement in histology teaching

Felszeghy, S; Pasonen-Seppänen, S; Koskela, A; Nieminen, P; Härkönen, K; Paldanius, KMA; Gabbouj, S; Ketola, K; Hiltunen, M; Lundin, M; Haapaniemi, T; Sointu, E; Bauman, EB; Gilbert, GE; Morton, D; Mahonen, A. 2019. Bmc medical education. 19: 273 A1 Journal article (refereed), original research

[11C]PIB PET Is Associated with the Brain Biopsy Amyloid-ß Load in Subjects Examined for Normal Pressure Hydrocephalus

Rinne, JO; Suotunen, T; Rummukainen, J; Herukka, SK; Nerg, O; Koivisto, AM; Rauramaa, T; Någren, K; Hiltunen, M; Alafuzoff, I; Rinne, J; Jääskeläinen, JE; Soininen, H; Leinonen, V. 2019. Journal of Alzheimer's disease. 67: 1343-1351 A1 Journal article (refereed), original research

A multiomic approach to characterize the temporal sequence in Alzheimer's disease-related pathology

Marttinen, M; Paananen, J; Neme, A; Mitra, V; Takalo, M; Natunen, T; Paldanius, KMA; Mäkinen, P; Bremang, M; Kurki, MI; Rauramaa, T; Leinonen, V; Soininen, H; Haapasalo, A; Pike, I; Hiltunen, M. 2018. Neurobiology of disease. 2019; 124: 454-468 A1 Journal article (refereed), original research

A report from the 8th Kuopio Alzheimer Symposium

Haapasalo, Annakaisa; Hiltunen, Mikko. 2018. Neurodegenerative disease management. 8: 289-299 A2 Review article, Literature review, Systematic review

Alterations in mitochondria-endoplasmic reticulum connectivity in human brain biopsies from idiopathic normal pressure hydrocephalus patients

Leal, NS; Dentoni, G; Schreiner, B; Kämäräinen, OP; Partanen, N; Herukka, SK; Koivisto, AM; Hiltunen, M; Rauramaa, T; Leinonen, V; Ankarcrona, M. 2018. Acta neuropathologica communications. 6: 102 A1 Journal article (refereed), original research

Alzheimerin taudin patofysiologia - mitä uutta?

Tanila, Heikki; Hiltunen, Mikko; Myllykangas, Liisa. 2018. Duodecim. 134: 2511-2518 D1 Article in a trade journal

Associations of Genetic Susceptibility to Alzheimer's Disease with Adiposity and Cardiometabolic Risk Factors among Children in a 2-Year Follow-up Study

Haapala, Eero A; Paananen, Jussi; Hiltunen, Mikko; Lakka, Timo A. 2018. Journal of Alzheimer's disease. 64: 587-595 A1 Journal article (refereed), original research

Copy number loss in SFMBT1 is common among Finnish and Norwegian patients with iNPH

Korhonen, VE; Helisalmi, S; Jokinen, A; Jokinen, I; Lehtola, JM; Oinas, M; Lönnrot, K; Avellan, C; Kotkansalo, A; Frantzen, J; Rinne, J; Ronkainen, A; Kauppinen, M; Junkkari, A; Hiltunen, M; Soininen, H; Kurki, M; Jääskeläinen, JE; Koivisto, AM; Sato, H; et al. 2018. Neurology : Genetics. 4: e291 A1 Journal article (refereed), original research

Decreased plasma C-reactive protein levels in APOE E 4 allele carriers

Martiskainen, Henna; Takalo, Mari; Solomon, Alina; Stancáková, Alena; Marttinen, Mikael; Natunen, Teemu; Haapasalo, Annakaisa; Herukka, Sanna-Kaisa; Kuusisto, Johanna; Soininen, Hilkka; Kivipelto, Miia; Laakso, Markku; Hiltunen, Mikko. 2018. Annals of clinical and translational neurology. 5: 1229-1240 A1 Journal article (refereed), original research

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

Peloso, GM; van der Lee, SJ; International Genomics of Alzheimer's Project (IGAP); Destefano, AL; Seshardi, S; et al. (incl. Hiltunen, Mikko; Haapasalo, Annakaisa; Helisalmi, Seppo; Koivisto, Anne). 2018. Alzheimer's & dementia : diagnosis, assessment & disease monitoring. 10: 595-598 A1 Journal article (refereed), original research

Incidence, comorbidities, and mortality in idiopathic normal pressure hydrocephalus

Pyykkö, OT; Nerg, O; Niskasaari, HM; Niskasaari, T; Koivisto, AM; Hiltunen, M; Pihlajamäki, J; Rauramaa, T; Kojoukhova, M; Alafuzoff, I; Soininen, H; Jääskeläinen, JE; Leinonen, V. 2018. World neurosurgery. 112: e624-e631 A1 Journal article (refereed), original research

Interrelationship between the Levels of C9orf72 and Amyloid-ß Protein Precursor and Amyloid-ß in Human Cells and Brain Samples

Leskelä, S; Takalo, M; Marttinen, M; Huber, N; Paananen, J; Mitra, V; Rauramaa, T; Mäkinen, P; Leinonen, V; Soininen, H; Pike, I; Remes, AM; Hiltunen, M; Haapasalo, A. 2018. Journal of Alzheimer's disease. 62: 269-278 A1 Journal article (refereed), original research

Intranasal insulin activates Akt2 signaling pathway in the hippocampus of wild-type but not in APP/PS1 Alzheimer model mice

Gabbouj, S; Natunen, T; Koivisto, H; Jokivarsi, K; Takalo, M; Marttinen, M; Wittrahm, R; Kemppainen, S; Naderi, R; Posado-Fernández, A; Ryhänen, S; Mäkinen, P; Paldanius, KMA; Doria, G; Poutiainen, P; Flores, O; Haapasalo, A; Tanila, H; Hiltunen, M. 2018. Neurobiology of aging. 2019; 75: 98-108 A1 Journal article (refereed), original research

Melatonin receptor type 1A gene linked to Alzheimer's disease in old age

Sulkava, S; Muggalla, P; Sulkava, R; Ollila, HM; Peuralinna, T; Myllykangas, L; Kaivola, K; Stone, DJ; Traynor, BJ; Renton, AE; Rivera, AM; Helisalmi, S; Soininen, H; Polvikoski , T; Hiltunen, M; Tienari, PJ; Huttunen, HJ; Paunio, T. 2018. Sleep. 41: 1-10 A1 Journal article (refereed), original research

Molecular Mechanisms of Synaptotoxicity and Neuroinflammation in Alzheimer's Disease

Marttinen, Mikael; Takalo, Mari; Natunen, Teemu; Wittrahm, Rebekka; Gabbouj, Sami; Kemppainen, Susanna; Leinonen, Ville; Tanila, Heikki; Haapasalo, Annakaisa; Hiltunen, Mikko. 2018. Frontiers in neurology. 12: 963 A2 Review article, Literature review, Systematic review

Prevalence of Schizophrenia in Idiopathic Normal Pressure Hydrocephalus

Vanhala, V; Junkkari, A; Korhonen, VE; Kurki, MI; Hiltunen, M; Rauramaa, T;, Nerg, O;, Koivisto, AM; Remes, AM; Perälä, J; Suvisaari, J; Lehto, S; Viinamäki, H; Soininen, H; Jääskeläinen, JE; Leinonen, V. 2018. Neurosurgery. 2019; 84: 883-889 A1 Journal article (refereed), original research

Protein kinase C -activating isophthalate derivatives mitigate Alzheimer's disease-related cellular alterations

Sarajärvi, T; Jäntti, M; Paldanius, KMA; Natunen, T; Wu, JC; Mäkinen, P; Tarvainen, I; Tuominen, RK; Talman, V; Hiltunen, M. 2018. Neuropharmacology. 141: 76-88 A1 Journal article (refereed), original research

Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers

de Matos, MR; Ferreira, C; Herukka, SK; Soininen, H; Janeiro, A; Santana, I; Baldeiras, I; Almeida, MR; Lleó, A; Dols-Icardo, O; Alcolea, D; Benussi, L; Binetti, G; Paterlini, A; Ghidoni, R; Nacmias, B; Meulenbroek, O; van Waalwijk van Doorn, LJC; Kuiperij, HB; Hausner, L; et al. 2018. Journal of Alzheimer's disease. 66: 639-652 A1 Journal article (refereed), original research

S-[18F]THK-5117-PET and [11C]PIB-PET Imaging in Idiopathic Normal Pressure Hydrocephalus in Relation to Confirmed Amyloid-ß Plaques and Tau in Brain Biopsies

Leinonen, V; Rauramaa, T; Johansson, J; Bottelbergs, A; Tesseur, I; van der Ark, P; Pemberton, D; Koivisto, AM; Jääskeläinen, JE; Hiltunen, M; Herukka, SK; Blennow, K; Zetterberg, H; Jokinen, P; Rokka, J; Helin, S; Haaparanta-Solin, M; Solin, O; Okamura, N; Kolb, HC; et al.. 2018. Journal of Alzheimer's disease. 64: 171-179 A1 Journal article (refereed), original research

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Bis, JC; Jian, X; Kunkle, BW; Chen, Y; Hamilton-Nelson, KL; Bush, WS; Salerno, WJ; Lancour, D; Ma, Y; Renton, AE; Marcora, E; Farrell, JJ; Zhao, Y; Qu, L; Ahmad, S; Amin, N; Amouyel, P; Beecham, GW; Below, JE; Campion, D; et al [ Incl Helisalmi, Seppo; HIltunen, Mikko; Remes, Anne; Soininen, Hilkka]. 2018. Molecular psychiatry. [Published: 14 August 2018]: 1-17 A1 Journal article (refereed), original research

Abstracts from Hydrocephalus 2016

Adam A, Robison J, Lu J, Jose R, Hiltunen M, Huovinen J, Helisalmi S, Paananen J, Koivisto AM, Remes AM, Soininen H, Kurki M, Jääskeläinen JE, Leinonen V et al. 2017. Fluids and barriers of the cns

Alzheimer's Disease-Related Polymorphisms in Shunt-Responsive Idiopathic Normal Pressure Hydrocephalus

Huovinen J, Helisalmi S, Paananen J, Laiterä T, Kojoukhova M, Sutela A, Vanninen R, Laitinen M, Rauramaa T, Koivisto AM, Remes AM, Soininen H, Kurki M, Haapasalo A, Jääskeläinen JE, Hiltunen M, Leinonen V. 2017. Journal of Alzheimer's disease. 60: 1077-1085 A1 Journal article (refereed), original research

Behavioral testing of mice exposed to intermediate frequency magnetic fields indicates mild memory impairment

Kumari K, Koivisto H, Viluksela M, Paldanius KMA, Marttinen M, Hiltunen M, Naarala J, Tanila H, Juutilainen J. 2017. PLoS ONE. 12: e0188880 A1 Journal article (refereed), original research

Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants

Rehker J, Rodhe J, Nesbitt RR, Boyle EA, Martin BK, Lord J, Karaca I, Naj A, Jessen F, Helisalmi S, Soininen H, Hiltunen M, Ramirez A, Scherer M, Farrer LA, Haines JL, Pericak-Vance MA, Raskind WH, Cruchaga C, Schellenberg GD et al.. 2017. PLoS ONE. 12: e0185777 A1 Journal article (refereed), original research

DHCR24 exerts neuroprotection upon inflammation-induced neuronal death

Martiskainen H, Paldanius KMA, Natunen T, Takalo M, Marttinen M, Leskelä S, Huber N, Mäkinen P, Bertling E, Dhungana H, Huuskonen M, Honkakoski P, Hotulainen P, Rilla K, Koistinaho J, Soininen H, Malm T, Haapasalo A, Hiltunen M. 2017. Journal of neuroinflammation. : 215 A1 Journal article (refereed), original research

Decreased plasma ß-amyloid in the Alzheimer's disease APP A673T variant carriers

Martiskainen H, Herukka SK, Stancáková A, Paananen J, Soininen H, Kuusisto J, Laakso M, Hiltunen M. 2017. Annals of neurology. 82: 128-132 A1 Journal article (refereed), original research

Disease-modifying effect of atipamezole in a model of post-traumatic epilepsy

Nissinen J, Andrade P, Natunen T, Hiltunen M, Malm T, Kanninen K, Soares JI, Shatilloa O, Sallinen J, Ndode-Ekanea XE, Pitkänen A. 2017. Epilepsy research. 136: 18-34 A1 Journal article (refereed), original research

Genetic risk factors in Finnish patients with Parkinson's disease

Ylönen Susanna, Siitonen Ari, Nalls Michael A, Ylikotila Pauli, Autere Jaana, Eerola-Rautio Johanna, Gibbs Raphael, Hiltunen Mikko, Tienari Pentti J, Soininen Hilkka, Singleton Andrew B, Majamaa Kari. 2017. Parkinsonism and related disorders. 45: 39-43 A1 Journal article (refereed), original research

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study

Marttila Maria, Kytövuori Laura, Helisalmi Seppo, Kallio Mika, Laitinen Marjo, Hiltunen Mikko, Kärppä Mikko, Majamaa Kari. 2017. Neuroepidemiology. 49: 34-39 A1 Journal article (refereed), original research

Neuropsychological Profile in the C9ORF72 Associated Behavioral Variant Frontotemporal Dementia

Suhonen N-M, Haanpää RM, Korhonen V, Jokelainen J, Pitkäniemi A, Heikkinen A-L, Krüger J, Hartikainen P, Helisalmi S, Hiltunen M, Hänninen T, Remes AM. 2017. Journal of Alzheimer's disease. 58: 479-489 A1 Journal article (refereed), original research

New Implications for the Role for Ubiquilin-1 in Molecular Mechanisms of Alzheimer's Disease: Interrelationship with BACE1

Takalo Mari, Natunen Teemu, Leskelä Stina, Paldanius Kaisa MA, Soininen Hilkka, Hiltunen MIkko, Haapasalo Annakaisa. 2017. Journal of Alzheimer's disease & Parkinsonism. 7: 365 A2 Review article, Literature review, Systematic review

PSEN1 Mutant iPSC-Derived Model Reveals Severe Astrocyte Pathology in Alzheimer's Disease

Oksanen M, Petersen AJ, Naumenko N, Puttonen K, Lehtonen ¦, Gubert Olivé M, Shakirzyanova A, Leskelä S, Sarajärvi T, Viitanen M, Rinne JO, Hiltunen M, Haapasalo A, Giniatullin R, Tavi P, Zhang SC, Kanninen KM, Hämäläinen RH, Koistinaho J. 2017. Stem cell reports. 9: 1885-1897 A1 Journal article (refereed), original research

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims Rebecca, van der Lee Sven J, Naj Adam C, Bellenguez Celine, Badarinarayan Nandini, Jakobsdottir Johanna, Kunkle Brian W, Boland Anne, Raybould Rachel, Bis Joshua C, Martin Eden R, Grenier-Boley Benjamin, Heilmann-Heimbach Stefanie, Chouraki Vincent, Kuzma Amanda B, Sleegers Kristel, Vronskaya Maria, Ruiz Agustin, Graham Robert R, Olaso Robert et al., ARUKConsortium, GERAD PERADES, CHARGE, ADGC, EADI. 2017. Nature genetics. 49: 1373-1384 A1 Journal article (refereed), original research

Comprehensive Quantitative Profiling of Tau and Phosphorylated Tau Peptides in Cerebrospinal Fluid by Mass Spectrometry Provides New Biomarker Candidates

Russell Claire L, Mitra Vikram, Hansson Karl, Blennow Kaj, Gobom Johan, Zetterberg Henrik, Hiltunen Mikko, Ward Malcolm, Pike Ian. 2016. Journal of Alzheimer's disease. 2017; 55: 303-313 A1 Journal article (refereed), original research

Effects of Alzheimer's Disease-Associated Risk Loci on Amyloid-ß Accumulation in the Brain of Idiopathic Normal Pressure Hydrocephalus Patients

Laiterä Tiina, Paananen Jussi, Helisalmi Seppo, Sarajärvi Timo, Huovinen Joel, Laitinen Marjo, Rauramaa Tuomas, Alafuzoff Irina, Remes Anne M, Soininen Hilkka, Haapasalo Annakaisa, Jääskeläinen Juha E, Leinonen Ville, Hiltunen Mikko. 2016. Journal of Alzheimer's disease. 2017; 55: 995-1003 A1 Journal article (refereed), original research

Functional screening of Alzheimer risk loci identifies PTK2B as an in vivo modulator and early marker of Tau pathology

Dourlen P, Fernandez-Gomez FJ, Dupont C, Grenier-Boley B, Bellenguez C, Obriot H, Caillierez R, Sottejeau Y, Chapuis J, Bretteville A, Abdelfettah F, Delay C, Malmanche N, Soininen H, Hiltunen M, Galas MC, Amouyel P, Sergeant N, Buée L, Lambert JC, Dermaut B. 2016. Molecular psychiatry. [Epub ahead of print]: 1-10 A1 Journal article (refereed), original research

Multimodal analysis to predict shunt surgery outcome of 284 patients with suspected idiopathic normal pressure hydrocephalus

Luikku Antti J, Hall Anette, Nerg Ossi, Koivisto Anne M, Hiltunen Mikko, Helisalmi Seppo, Herukka Sanna-Kaisa, Sutela Anna, Kojoukhova Maria, Mattila Jussi, Lötjönen Jyrki, Rummukainen Jaana, Alafuzoff Irina, Jääskeläinen Juha E, Remes Anne M, Soininen Hilkka, Leinonen Ville. 2016. Acta neurochirurgica. 158: 2311-2319 A1 Journal article (refereed), original research

SEPT8 modulates ß-amyloidogenic processing of APP by affecting the sorting and accumulation of BACE1

Kurkinen Kaisa MA, Marttinen Mikael, Turner Laura, Natunen Teemu, Mäkinen Petra, Haapalinna Fanni, Sarajärvi Timo, Gabbouj Sami, Kurki Mitja, Paananen Jussi, Koivisto Anne M, Rauramaa Tuomas, Leinonen Ville, Tanila Hanila, Soininen Hilkka, Lucas Fiona R, Haapasalo Annakaisa, Hiltunen Mikko. 2016. Journal of cell science. 129: 2224-2238 A1 Journal article (refereed), original research

The C9ORF72 expansion sizes in patients with psychosis: a population-based study on the Northern Finland Birth Cohort 1966

Solje Eino, Miettunen Jouko, Marttila Riikka, Helisalmi Seppo, Laitinen Marjo, Koivumaa-Honkanen Heli, Isohanni Matti, Hiltunen Mikko, Jääskeläinen Erika, Remes Anne M. 2016. Psychiatric genetics. 26: 92-94 A1 Journal article (refereed), original research

The role of the FTD-ALS associated C9orf72 expansion in suicide victims

Solje Eino, Riipinen Pirkko, Helisalmi Seppo, Särkioja Terttu, Laitinen Marjo, Hiltunen Mikko, Hakko Helinä, Remes Anne M. 2016. Amyotrophic lateral sclerosis & frontotemporal degeneration. 17: 589-592 A1 Journal article (refereed), original research

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert J-C, Chung J, Naj AC, Kunkle BW, Wang L-S, Bis JC, Bellenguez C, Harold D, Lunetta KL, Destefano AL, Grenier-Boley B, Sims R, Beecham GW, Smith AV, Chouraki V, Hamilton-Nelson KL, Ikram MA et al (incl. Hilkka Soininen and Mikko Hiltunen). 2015. Molecular psychiatry. 2016; 21: 108-117 A1 Journal article (refereed), original research

Amyloid-ß and Tau Dynamics in Human Brain Interstitial Fluid in Patients with Suspected Normal Pressure Hydrocephalus

Herukka Sanna-Kaisa, Rummukainen Jaana, Ihalainen Jouni, von und zu Fraunberg Mikael, Koivisto Anne M, Nerg Ossi, Puli Lakshman K, Seppälä Toni T, Zetterberg Henrik, Pyykkö Okko T, Helisalmi Seppo, Tanila Heikki, Alafuzoff Irina, Hiltunen Mikko, Rinne Jaakko, Soininen Hilkka, Jääskeläinen Juha E, Leinonen Ville. 2015. Journal of Alzheimer's disease. 46: 261-269 A1 Journal article (refereed), original research

Effects of Alzheimer's Disease-Associated Risk Loci on Cerebrospinal Fluid Biomarkers and Disease Progression: A Polygenic Risk Score Approach

Martiskainen Henna, Helisalmi Seppo, Viswanathan Jayashree, Kurki Mitja, Hall Anette, Herukka Sanna-Kaisa, Sarajärvi Timo, Natunen Teemu, Kurkinen Kaisa M.A., Huovinen Jaakko, Mäkinen Petra, Laitinen Marjo, Koivisto Anne M., Mattila Kari M., Lehtimäki Terho, Remes Anne M., Leinonen Ville, Haapasalo Annakaisa, Soininen Hilkka, Hiltunen Mikko. 2015. Journal of Alzheimer's disease. 43: 565-573 A1 Journal article (refereed), original research

Genetic Variation in delta-Opioid Receptor Associates with Increased ß- and gamma-Secretase Activity in the Late Stages of Alzheimer's Disease

Sarajärvi Timo, Marttinen Mikael, Natunen Teemu, Kauppinen Tarja, Mäkinen Petra, Helisalmi Seppo, Laitinen Marjo, Rauramaa Tuomas, Leinonen Ville, Petäjä-Repo Ulla, Soininen Hilkka, Haapasalo Annakaisa, Hiltunen Mikko. 2015. Journal of Alzheimer's disease. 48: 507-516 A1 Journal article (refereed), original research

Hypoxia and GABA shunt activation in the pathogenesis of Alzheimer's disease

Salminen Antero, Jouhten Paula, Sarajärvi Timo, Haapasalo Annakaisa, Hiltunen Mikko. 2015. Neurochemistry international. 92: 13-24 A2 Review article, Literature review, Systematic review

Impaired mitochondrial energy metabolism in Alzheimer's disease: Impact on pathogenesis via disturbed epigenetic regulation of chromatin landscape

Salminen Antero, Haapasalo Annakaisa, Kauppinen Anu, Kaarniranta Kai, Soininen Hilkka, Hiltunen Mikko. 2015. Progress in neurobiology. epub ahead of print 19 May 2015: A1 Journal article (refereed), original research

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

Steinberg Stacy, Stefansson Hreinn, Jonsson Thorlakur, Johannsdottir Hrefna, Ingason Andres, Helgason Hannes, Sulem Patrick, Magnusson Olafur Th, Gudjonsson Sigurjon A, Unnsteinsdottir Unnur, Kong Augustine, Helisalmi Seppo, Soininen Hilkka, Lah James J, DemGene, Aarsland Dag, Fladby Tormod, Ulstein Ingun D, Djurovic Srdjan, Sando Sigrid B (incl. Hiltunen Mikko). 2015. Nature genetics. 47: 445-447 A1 Journal article (refereed), original research

Muistisairauksien genetiikka ja perinnölliset muistisairaudet

Remes Anne, Hiltunen Mikko, Castrén Maija, Pöyhönen Minna. Teoksessa: Timo Erkinjuntti, Anne Remes, Juha Rinne, Hilkka Soininen(toim.) , 2015. Muistisairaudet. s. 194-. Kustannus Oy Duodecim A3 Book section, Chapters in research books

Reduction of epileptiform activity by valproic acid in a mouse model of Alzheimer's disease is not long-lasting after treatment discontinuation

Ziyatdinova Sofya, Viswanathan Jayashree, Hiltunen Mikko, Tanila Heikki, Pitkänen Asla. 2015. Epilepsy research. 112: 43-55 A1 Journal article (refereed), original research

Relationship between ubiquilin-1 and BACE1 in human Alzheimer's disease and APdE9 transgenic mouse brain and cell-based models

Natunen Teemu, Takalo Mari, Kemppainen Ssusanna, Leskelä Stina, Marttinen Mikael, Kurkinen Kaisa MA, Pursiheimo Juha-Pekka, Sarajärvi Timo, Viswanathan Jayashree, Gabbouj Sami, Solje Eino, Tahvanainen Eveliina, Pirttimäki Tiina, Kurki Mitja, Paananen Jussi, Rauramaa Tuomas, Miettinen Pasi, Mäkinen Petra, Leinonen Ville, Soininen Hilkka et al. 2015. Neurobiology of disease. 2016; 85: 187-205 A1 Journal article (refereed), original research

Synaptic dysfunction and septin protein family members in neurodegenerative diseases

Marttinen Mikael, Kurkinen Kaisa MA, Soininen Hilkka, Haapasalo Annakaisa, Hiltunen Mikko. 2015. Molecular neurodegeneration. 10: 12 p A2 Review article, Literature review, Systematic review

The Expression of Transthyretin and Amyloid-ß Protein Precursor is Altered in the Brain of Idiopathic Normal Pressure Hydrocephalus Patients

Laiterä Tiina, Kurki Mitja I, Pursiheimo Juha-Pekka, Zetterberg Henrik, Helisalmi Seppo, Rauramaa Tuomas, Alafuzoff Irina, Remes Anne M, Soininen Hilkka, Haapasalo Annakaisa, Jääskeläinen Juha E, Hiltunen Mikko, Leinonen Ville. 2015. Journal of Alzheimer's disease. 48: 959-968 A1 Journal article (refereed), original research

ADAMTS9 locus associates with increased risk of wet AMD

Helisalmi Seppo, Immonen Ilkka, Losonczy Gergely, Resch Miklos D, Benedek Szabolcs, Balogh Istvan, Papp Andras, Berta Andras, Uusitupa Matti, Hiltunen Mikko, Kaarniranta Kai. 2014. Acta ophthalmologica. 2014: 1 A1 Journal article (refereed), original research

Adjustment of apnea-hypopnea index with severity of obstruction events enhances detection of sleep apnea patients with the highest risk of severe health consequences

Muraja-Murro A, Kulkas A, Hiltunen M, Kupari S, Hukkanen T, Tiihonen P, Mervaala E, Töyräs J. 2014. Sleep and breathing. 18: 641-647 A1 Journal article (refereed), original research

Cerebrospinal Fluid Biomarker and Brain Biopsy Findings in Idiopathic Normal Pressure Hydrocephalus

Pyykkö OT, Lumela M, Rummukainen J, Nerg O, Seppälä TT, Herukka SK, Koivisto AM, Alafuzoff I, Puli L, Savolainen S, Soininen H, Jääskeläinen JE, Hiltunen M, Zetterberg H, Leinonen V. 2014. PLoS ONE. 9: 1-10 A1 Journal article (refereed), original research

Convergent genetic and expression data implicate immunity in Alzheimer's disease

Jones L, Lambert J, Wang L, Choi S, Harold D, Vedernikov A, Escott-Price V, Stone T, Richards A, Bellenguez C, Ibrahim-Verbaas CA, Naj AC, Sims R, Gerrish A, Jun G, DeStefano AL, Bis JC, Beecham GW, Grenier-Boley B, ..., Soininen H, et al., (International Genomics of Alzheimer's Disease Consortium (IGAP); International Genomics of Alzheimer's Disease Consortium IGAP). 2014. Alzheimer's & dementia. 2014: 1-14 A1 Journal article (refereed), original research

Gene-wide analysis detects two new susceptibility genes for Alzheimer's Disease

Escott-Price V, Bellenguez C, Wang L-S, Choi S-H, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert J-C, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA et.al.. 2014. PLoS ONE. 9: e94661 A1 Journal article (refereed), original research

High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms

Kurki MI, Gaál EI, Kettunen J, Lappalainen T, Menelaou A, Anttila V, van 't Hof FN, von Und Zu Fraunberg M, Helisalmi S, Hiltunen M, Lehto H2, Laakso A, Kivisaari R, Koivisto T, Ronkainen A, Rinne J, Kiemeney LA, Vermeulen SH, Kaunisto MA, Eriksson JG, Aromaa A, Perola M, Lehtimäki T, Raitakari OT, Salomaa V, Gunel M, Dermitzakis ET, Ruigrok YM, Rinkel GJ, Niemelä M, Hernesniemi J, Ripatti S, de Bakker PI, Palotie A, Jääskeläinen JE. 2014. PLoS genetics. 10: e1004134 A1 Journal article (refereed), original research

High-fat diet increases tau expression in the brain of T2DM and AD mice independently of peripheral metabolic status

Takalo M, Haapasalo A, Martiskainen H, Kurkinen KM, Koivisto H, Miettinen P, Khandelwal VK, Kemppainen S, Kaminska D, Mäkinen P, Leinonen V, Pihlajamäki J, Soininen H, Laakso M, Tanila H, Hiltunen M. 2014. Journal of nutritional biochemistry. 25: 634-641 A1 Journal article (refereed), original research

Histone demethylase Jumonji D3 (JMJD3/KDM6B) at the nexus of epigenetic regulation of inflammation and the aging process

Salminen Antero, Kaarniranta Kai, Hiltunen Mikko, Kauppinen Anu. 2014. Journal of molecular medicine: jmm. -: - A2 Review article, Literature review, Systematic review

Increased y-Secretase Activity in Idiopathic Normal Pressure Hydrocephalus Patients with b-Amyloid Pathology

Laiterä T, Sarajärvi T, Haapasalo A, Puli L, Kauppinen T, Mäkinen P, Rauramaa T, Tanila H, Jääskeläinen JE, Alafuzoff I, Soininen H, Leinonen V, Hiltunen M. 2014. PLoS ONE. 3: 1-8 A1 Journal article (refereed), original research

KB-R7943, an inhibitor of the reverse Na(+)/Ca(2+) exchanger, does not modify secondary pathology in the thalamus following focal cerebral stroke in rats

Lipsanen Anu, Parkkinen Saara, Khabbal Joonas, Mäkinen Petra, Peräniemi Sirpa, Hiltunen Mikko, Jolkkonen Jukka. 2014. Neuroscience letters. 580: 173-177 A1 Journal article (refereed), original research

Krebs cycle dysfunction shapes epigenetic landscape of chromatin: Novel insights into mitochondrial regulation of aging process

Salminen Antero, Kaarniranta Kai, Hiltunen Mikko, Kauppinen Anu. 2014. Cellular signalling. 26: 1598-1603 A2 Review article, Literature review, Systematic review

Krebs cycle intermediates regulate DNA and histone methylation: Epigenetic impact on the aging process

Salminen Antero, Kauppinen Anu, Hiltunen Mikko, Kaarniranta Kai. 2014. Ageing research reviews. 16: 45-65 A2 Review article, Literature review, Systematic review

The Effect of TOMM40 Poly-T Repeat Lengths on Age of Onset and Cerebrospinal Fluid Biomarkers in Finnish Alzheimer's Disease Patients

Helisalmi S, Hall A, Meriläinen EH, Väisänen V, Koivisto AM, Herukka SK, Laitinen M, Soininen H, Hiltunen M. 2014. Neurodegenerative diseases. 14: 204-208 A1 Journal article (refereed), original research

Transcriptomics and mechanistic elucidation of Alzheimer's disease risk genes in the brain and in vitro models

Martiskainen H, Viswanathan J, Nykänen NP, Kurki M, Helisalmi S, Natunen T, Sarajärvi T, Kurkinen KM, Pursiheimo JP, Rauramaa T, Alafuzoff I, Jääskeläinen JE, Leinonen V, Soininen H, Haapasalo A, Huttunen HJ, Hiltunen M. 2014. Neurobiology of aging. 36: 1221.e15-1221.e28 A1 Journal article (refereed), original research

&#947 -Secretase Components as Predictors of Breast Cancer Outcome

Peltonen HM, Haapasalo A, Hiltunen M, Kataja V, Kosma VM, Mannermaa A. 2013. PLoS ONE. 8: e79249, 1-13 A1 Journal article (refereed), original research

Alzheimern taudin uudet riskigeenit - tautia ennakoivat biomarkkerit?

Hiltunen M, Haapasalo A, Soininen H. 2013. Duodecim. 129: 583-588 A2 Review article, Literature review, Systematic review

Effects of NR1H3 genetic variation on the expression of liver X receptor alfa and the progression of Alzheimer's Disease

Natunen Teemu, Martiskainen Henna, Sarajärvi Timo, Helisalmi Seppo, Pursiheimo Juha-Pekka, Viswanathan Jayashree, Laitinen Marjo, Kauppinen Tarja, Rauramaa Tuomas, Leinonen Ville, Alafuzoff Irina, Haapasalo Annakaisa, Soininen Hilkka, Hiltunen Mikko. 2013. PLoS ONE. 8: e80700 A1 Journal article (refereed), original research

Elucidation of the BACE1 regulating factor GGA3 in Alzheimer's Disease

Natunen T, Parrado AR, Helisalmi S, Pursiheimo J-P, Sarajärvi T, Mäkinen P, Kurkinen KMA, Mullin K, Alafuzoff I, Haapasalo A, Bertram L, Soininen H, Tanzi RE, Hiltunen M. 2013. Journal of Alzheimer's disease. 37: 217-232 A1 Journal article (refereed), original research

Epigenetic regulation of ASC/TMS1 expression: potential role in apoptosis and inflammasome function

Salminen A, Kauppinen A, Hiltunen M, Kaarniranta K. 2013. Cellular and molecular life sciences. -: - A2 Review article, Literature review, Systematic review

GRN variant rs5848 reduces plasma and brain levels of granulin in Alzheimer's disease patients

Kämäläinen A, Viswanathan J, Natunen T, Helisalmi S, Kauppinen T, Pikkarainen M, Pursiheimo J-P, Alafuzoff I, Kivipelto M, Haapasalo A, Soininen H, Herukka S-K, Hiltunen M. 2013. Journal of Alzheimer's disease. 33: 23-27 A1 Journal article (refereed), original research

Genetic loci associated with Alzheimer's Disease and cerebrospinal fluid biomarkers in a Finnish case-control cohort

Elias-Sonnenschein LS, Helisalmi S, Natunen T, Hall A, Paajanen T, Herukka S-K, Laitinen M, Remes AM, Koivisto AM, Mattila KM, Lehtimäki T, Verhey FRJ, Visser PJ, Soininen H, Hiltunen M. 2013. PLoS ONE. 8: e59676 A1 Journal article (refereed), original research

Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome

Salminen A, Kaarniranta K, Kauppinen A, Ojala J, Haapasalo A, Soininen H, Hiltunen M. 2013. Progress in neurobiology. 106-107: 33-54 A1 Journal article (refereed), original research

Lack of secondary pathology in the thalamus after focal cerebral ischemia in nonhuman primates

Lipsanen A, Kalesnykas G, Pro-Sistiaga P, Hiltunen M, Vanninen R, Bernaudin M, Touzani O, Jolkkonen J. 2013. Experimental neurology. 248: 224-227 A1 Journal article (refereed), original research

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

Lambert JC,Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, Jun G, Destefano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, ... Soininen H, ... Hiltunen M et al.. 2013. Nature genetics. Dec; 45 (12): 1452-8 A1 Journal article (refereed), original research

Non-selective calcium channel blocker bepridil decreases secondary pathology in mice after photothrombotic cortical lesion

Lipsanen A, Flunkert S, Kuptsova K, Hiltunen M, Windisch M, Hutter-Paier B, Jolkkonen J. 2013. PLoS ONE. 8: e60235 A1 Journal article (refereed), original research

Protein aggregation and degradation mechanisms in neurodegenerative diseases

Takalo M, Salminen A, Soininen H, Hiltunen M, Haapasalo A. 2013. American journal of neurodegenerative disease. 2: 1-14 A2 Review article, Literature review, Systematic review

Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's Disease patients alter calcium homeostasis

Rubio-Moscardo Fanny, Seto-Salvia Nuria, Pera Marta, Bosch-Morato Monica, Plata Christina, Belbin Olivia, Gene Gemma, Dols-Icardo Oriol, Ingelsson Martin, Helisalmi Seppo, Soininen Hilkka, Hiltunen Mikko, Giedraitis Vilmantas, Lannfelt Lars, Frank Ana, Bullido Ma Jesus, Combarros Onofre, Sanchez-Juan Pascual et.al.. 2013. PLoS ONE. 8: e74203 A1 Journal article (refereed), original research

Targeting ApoE4/ApoE receptor LRP1 in Alzheimer's disease

Martiskainen H, Haapasalo A, Kurkinen KM, Pihlajamäki J, Soininen H, Hiltunen M. 2013. Expert opinion on therapeutic targets. 17: 781-794 A1 Journal article (refereed), original research

Targeting ubiquilin-1 in Alzheimer's disease

Takalo M, Haapasalo A, Natunen T, Viswanathan J, Kurkinen KMA, Tanzi RE, Soininen H, Hiltunen M. 2013. Expert opinion on therapeutic targets. 17: 795-810 A2 Review article, Literature review, Systematic review

The severity of individual obstruction events is related to increased mortality rate in severe obstructive sleep apnea

Muraja-Murro A, Kulkas A, Hiltunen M, Kupari S, Hukkanen T, Tiihonen P, Mervaala E, Töyräs J. 2013. Journal of sleep research. 22: 663-669 A1 Journal article (refereed), original research

Ubiquilin-1 modulates gamma-secretase-mediated epsilon-site cleavage in neuronal cells

Viswanathan J, Haapasalo A, Kurkinen KMA, Natunen T, Mäkinen P, Bertram L, Soininen H, Tanzi RE, Hiltunen M. 2013. Biochemistry. 52: 3899-3912 A1 Journal article (refereed), original research

APOE4 predicts amyloid-&#946 in cortical brain biopsy but not idiopathic normal pressure hydrocephalus

Pyykkö OT, Helisalmi S, Koivisto AM, Mölsä JA, Rummukainen J, Nerg O, Alafuzoff I, Savolainen S, Soininen H, Jääskeläinen JE, Rinne J, Leinonen V, Hiltunen M. 2012. Journal of neurology neurosurgery and psychiatry. 83: 1119-1124 A1 Journal article (refereed), original research

Alzheimerin taudin perustutkimuksesta uusiin lääkehoitoihin [with English Summary: From basic research towards novel therapies in Alzheimer's disease]

Hiltunen Mikko, Hallikainen Merja, Haapasalo Annakaisa, Soininen Hilkka. 2012. Dosis. 28: 25-31 A2 Review article, Literature review, Systematic review

Anthocyanin-enriched bilberry and blackcurrant extracts modulate amyloid precursor protein processing and alleviate behavioral abnormalities in the APP/PS1 mouse model of Alzheimer's disease

Vepsäläinen Saila, Koivisto Henna, Pekkarinen Elina, Mäkinen Petra, Dobson Gary, McDougall Gordon J, Stewart Derek, Haapasalo Annakaisa, Karjalainen Reijo O, Tanila Heikki, Hiltunen Mikko. 2012. Journal of nutritional biochemistry. 24: 360-370 A1 Journal article (refereed), original research

Bepridil decreases A&#946 and calcium levels in the thalamus after middle cerebral artery occlusion in rats

Sarajärvi Timo, Lipsanen Anu, Mäkinen Petra, Peräniemi Sirpa, Soininen Hilkka, Haapasalo Annakaisa, Jolkkonen Jukka, Hiltunen Mikko. 2012. Journal of cellular and molecular medicine. 16: 2754-2767 A1 Journal article (refereed), original research

CSF biomarkers for Alzheimer disease correlate with cortical brain biopsy findings

Seppälä TT, Nerg O, Koivisto AM, Rummukainen J, Puli L, Zetterberg H, Pyykkö OT, Helisalmi S, Alafuzoff I, Hiltunen M, Jääskeläinen JE, Rinne J, Soininen H, Leinonen V, Herukka S-K. 2012. Neurology. 78: 1568-1575 A1 Journal article (refereed), original research

Contribution of genetic and dietary insulin resistance to Alzheimer phenotype in APP/PS1 transgenic mice

Hiltunen M, Khandelwal VKM, Yaluri N, Tiilikainen T, Tusa M, Koivisto H, Krzisch M, Vepsäläinen S, Mäkinen P, Kemppainen S, Miettinen P, Haapasalo A, Soininen H, Laakso M, Tanila H. 2012. Journal of cellular and molecular medicine. 16: 1206-1222 A1 Journal article (refereed), original research

Emerging role of p62/sequestosome-1 in the pathogenesis of Alzheimer's disease

Salminen, A; Kaarniranta, K; Haapasalo, A; Hiltunen, M; Soininen, H; Alafuzoff, I. 2012. Progress in neurobiology. 96: 87-95 A1 Journal article (refereed), original research

Genetic analysis of genes involved in amyloid-beta degradation and clearance in Alzheimer's Disease

Natunen T, Helisalmi S, Vepsäläinen S, Sarajärvi T, Antikainen L, Mäkinen P, Herukka S-K, Koivisto AM, Haapasalo A, Soininen H, Hiltunen M. 2012. Journal of Alzheimer's disease. 28: 553-559 A1 Journal article (refereed), original research

Genetics of Alzheimer's disease

Viswanathan J, Soininen H, Hiltunen M. Teoksessa: Gauthier S, Rosa-Neto P(toim.) , 2012. Advances in Alzheimer's Disease Management. s. 2-9. A3 Book section, Chapters in research books

Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

Lambert JC, Grenier-Boley B, Harold D, Zelenika D, Chouraki V, Kamatani Y, Sleegers K, Ikram MA, Hiltunen M, Reitz C, Mateo I, Feulner T, Bullido M, Galimberti D, Concari L, Alvarez V, Sims R, Gerrish A, Chapman J, Deniz-Naranjo C et al.. 2012. Molecular psychiatry. -: - A1 Journal article (refereed), original research

Letter by Hiltunen and Jolkkonen Regarding Article, "Secondary Neurodegeneration in Remote Regions After Focal Cerebral Infarction: A New Target for Stroke Management?"

Hiltunen Mikko, Jolkkonen Jukka. 2012. Stroke. 43: e97 B1 Non-refereed journal articles

Radiation-induced genomic instability in Caenorhabditis elegans

Huumonen Katriina, Immonen Hanna-Kaisa, Baverstock Keith, Hiltunen Mikko, Korkalainen Merja, Lahtinen Tapani, Parviainen Juha, Viluksela Matti, Wong Garry, Naarala Jonne, Juutilainen Jukka. 2012. Mutation research: genetic toxicology and environmental mutagenesis. 748: 36-41 A1 Journal article (refereed), original research

Secondary neurodegeneration in remote regions after focal cerebral infarction: A new target for Stroke Management

Hiltunen M, Jolkkonen J. 2012. Stroke. 43: e96 A2 Review article, Literature review, Systematic review

AMP-activated protein kinase: a potential player in Alzheimer's disease

Salminen A, Kaarniranta K, Haapasalo A, Soininen H, Hiltunen M. 2011. Journal of neurochemistry. 118: 460-474 A1 Journal article (refereed), original research

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

Genin E, Hannequin D, Wallon D, Sleegers K, Hiltunen M, Combarros O, Bullido MJ, Engelborghs S, De Deyn P, Berr C, Pasquier F, Dubois B, Tognoni G, Fievet N, Brouwers N, Bettens K, Arosio B, Coto E, Del Zompo M, Mateo I, Epelbaum J, Frank-Garcia A, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Valdivieso F, Vepsäläinen S et al.. 2011. Molecular psychiatry. 16: 903-907 A1 Journal article (refereed), original research

Age-related macular degeneration (AMD): Alzheimer's Disease in the eye

Kaarniranta K, Salminen A, Haapasalo A, Soininen H, Hiltunen M. 2011. Journal of Alzheimer's disease. 24: 615-631 A2 Review article, Literature review, Systematic review

Alzheimer's disese-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation

Viswanathan Jayashree, Haapasalo Annakaisa, Böttcher Claudia, Miettinen Riitta, Kurkinen Kaisa MA, Lu Alice, Thomas Anne, Maynard Christa J, Romano Donna, Hyman Bradley T, Berezovska Oksana, Bertram Lars, Soininen Hilkka, Dantuma Nico P, Tanzi RE, Hiltunen Mikko. 2011. Traffic. 12: 330-348 A1 Journal article (refereed), original research

Astrocytes in the aging brain express characteristics of senescence-associated secretory phenotype

Salminen A, Ojala J, Kaarniranta K, Haapasalo A, Hiltunen M, Soininen H. 2011. European journal of neuroscience. 34: 3-11 A2 Review article, Literature review, Systematic review

Chronic hyperperfusion and angiogenesis follow subacute hypoperfusion in the thalamus of rats with focal cerebral ischemia

Hayward Nick MEA, Yanev Pavel, Haapasalo Annakaisa, Miettinen Riitta, Hiltunen Mikko, Gröhn Olli, Jolkkonen Jukka. 2011. Journal of cerebral blood flow and metabolism. 31: 1119-1132 A1 Journal article (refereed), original research

Chronic ibuprofen treatment does not affect the secondary pathology in the thalamus or improve behavioral outcome in middle cerebral artery occlusion rats

Lipsanen Anu, Hiltunen Mikko, Jolkkonen Jukka. 2011. Pharmacology biochemistry and behavior. 99: 468-474 A1 Journal article (refereed), original research

Common variants at ABCA7,MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J et al.. 2011. Nature genetics. 43: 429-435 A2 Review article, Literature review, Systematic review

Complex pathology in the thalamus following cerebral ischemia

Hiltunen M, Jolkkonen J. Teoksessa: Song JL(toim.) , 2011. Thalamus: Anatomy, Functions and Disorders. s. 83-98. Nova science publishers A3 Book section, Chapters in research books

Cysteine 27 variant of the delta-opioid receptor affects amyloid precursor protein processing through altered endocytic trafficking

Sarajärvi Timo, Tuusa Jussi T, Haapasalo Annakaisa, Lackman Jarkko T, Sormunen Raija, Helisalmi Seppo, Roehr Johannes T, Parrado Antonio R, Mäkinen Petra, Bertram Lars, Soininen Hilkka, Tanzi Rudolph E, Petäjä-Repo Ulla E, Hiltunen Mikko. 2011. Molecular and cellular biology. 31: 2326-2340 A1 Journal article (refereed), original research

Emerging role of p62/sequestosome-1 in th pathogenesis of Alzheimer's disease

Salminen A, Kaarniranta K, Haapasalo A, Hiltunen M, Soininen H, Alafuzoff I. 2011. Progress in neurobiology. 96: 87-95 A1 Journal article (refereed), original research

Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations

Lambert J, Zelenika D, Hiltunen M, Chouraki V, Combarros O, Bullido MJ, Tognoni G, Fievet N, Boland A, Arosio B, Coto E, Del Zompo M, Mateo I, Frank-Garcia A, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri F, Delepine M et al.. 2011. Neurobiology of aging. 32: 756.e11-756.e15 A1 Journal article (refereed), original research

Genetic Risk Factors: Their Function and Comorbidities in Alzheimer's Disease

Hiltunen M, Bertram L, Saunders AJ. 2011. International journal of alzheimers disease. ID 925362: 1-2 A1 Journal article (refereed), original research

Involvement of ubiquilin-1 transcript variants in protein degradation and accumulation

Haapasalo A, Viswanathan J, Kurkinen KMA, Bertram L, Soininen H, Dantuma NP, Tanzi RE, Hiltunen M. 2011. Communicative & integrative biology. 4: 428-432 A1 Journal article (refereed), original research

No association between high temperature requirement 1 (HTRA1) gene polymorphisms and Alzheimer's disease

Turunen Mari, Vepsäläinen Saila, Mäkinen Petra, Helisalmi Seppo, Haapasalo Annakaisa, Soininen Hilkka, Hiltunen Mikko. 2011. Neurobiology of aging. 32: 547.e7-547.e9 A1 Journal article (refereed), original research

Tenomodulin variants, APOE and Alzheimer's disease in a Finnish case-control cohort. Negative results

Tolppanen AM, Helisalmi S, Hiltunen M, Kolehmainen M, Schwab U, Pirttilä T, Pulkkinen L, Uusitupa M & Soininen H.. 2011. Neurobiology of aging. 32: 546.e7-546.e9 A1 Journal article (refereed), original research

An association study of 21 potential Alzheimer's disease risk genes in a Finnish population

Sarajärvi T, Helisalmi S, Antikainen L, Mäkinen P, Koivisto AM, Herukka SK, Haapasalo A, Soininen H, Hiltunen M. 2010. Journal of Alzheimer's disease. 21: 763-767 A1 Journal article (refereed), original research

Blackcurrant (Ribes nigrum L.) neuroprotective potential: New results from the "BrainHealthFood" project

Karjalainen Reijo, Hiltunen Mikko, Vepsäläinen Saila, Törrönen Riitta, Saviranta Niina, Hilz Hauke, Bildstein Marie, McDougall Gordon, Stewart Derek, Mattila Pirjo, Tanila Heikki. 2010.

Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation

Martikainen P, Pikkarainen M, Pöntynen K, Hiltunen M, Lehtovirta M, Tuisku S, Soininen H & Alafuzoff I. 2010. Neuropathology and applied neurobiology. 36: 41-54 A1 Journal article (refereed), original research

CALHM1 P86L polymorphism does not alter amyloid-beeta or tau in cerebrospinal fluid

Giedraitis V, Glaser A, Sarajärvi T, Brundin RM, Degerman Gunnarsson M, Schjeide BM, Tanzi RE, Helisalmi S et al. 2010. Neuroscience letters. 469: 265-267 A1 Journal article (refereed), original research

Hsp90 regulates tau pathology through co-chaperone complexes in Alzheimer's disease

Salminen A, Ojala J, Kaarniranta K, Hiltunen M & Soininen H. 2010. Progress in neurobiology. 93: 99-110 A1 Journal article (refereed), original research

Immunohistochemical visualization of amyloid-beta protein precursor and amyloid-beta in extra- and intracellular compartments in the human brain

Aho L, Pikkarainen M, Hiltunen M, Leinonen V, Alafuzoff I. 2010. Journal of Alzheimer's disease. 20: 1015-1028 A1 Journal article (refereed), original research

Stimulated dopamine overflow and alpha-synuclein expression in the nucleus accumbens core distinguish rats bred for differential ethanol preference

Pelkonen A, Hiltunen M, Kiianmaa K & Yavich L. 2010. Journal of neurochemistry. 114: 1168-1176 A1 Journal article (refereed), original research

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

Lambert JC, Sleegers K, Gonzalez-Perez A, Ingelsson M, Beecham GW, Hiltunen M et al. 2010. Journal of Alzheimer's disease. 22: 247-255 A1 Journal article (refereed), original research

An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population

Viswanathan J, Mäkinen P, Helisalmi S, Haapasalo A, Soininen H, Hiltunen M, Soininen H, Hiltunen M, Helisalmi S. 2009. American journal of medical genetics. Part B : neuropsychiatric genetics. 150B: 747-750 A1 Journal article (refereed), original research

Combined risk effects of IDE and NEP gene variants on Alzheimer disease

Vepsäläinen S, Helisalmi S, Mannermaa A, Pirttilä T, Soininen H, Hiltunen M, Helisalmi S, Pirttilä T, Soininen H, Hiltunen M. 2009. Journal of neurology neurosurgery and psychiatry. 80: 1268-1270 A1 Journal article (refereed), original research

Down-regulation of seladin-1 increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis

Sarajärvi T, Haapasalo A, Viswanathan J, Mäkinen P, Laitinen M, Soininen H, Hiltunen M, Soininen H, Hiltunen M. 2009. Journal of biological chemistry. 284: 34433-34443 A1 Journal article (refereed), original research

Effects of ubiquillin 1 on the unfolded protein response

Lu A, Hiltunen M, Romano DM, Soininen H, Hyman BT, Bertram L, Tanzi RE, Hiltunen M, Soininen H. 2009. Journal of molecular neuroscience. 38: 19-30 A1 Journal article (refereed), original research

Flanking markers of cyntation C (CST3) gene do not show association with Alzheimer's disease

Helisalmi S, Väkevä A, Hiltunen M, Soininen H, Soininen H, Helisalmi S. 2009. Dementia and geriatric cognitive disorders. 27: 318-321 A1 Journal article (refereed), original research

Focal cerebral ischemia in rats alters APP processing and expression of Abeta peptide degrading enzymes in the thalamus

Hiltunen M, Mäkinen P, Peräniemi S, Sivenius J, van Groen T, Soininen H, Jolkkonen J, Hiltunen M, Sivenius J, Soininen H. 2009. Neurobiology of disease. 35: 103-113 A1 Journal article (refereed), original research

Functional roles of amyloid-beta protein precursor and amyloid-beta peptides: Evidence from experimental studies

Hiltunen M, van Groen T, Jolkkonen J. 2009. Journal of Alzheimer's disease. 18: 401-412 A1 Journal article (refereed), original research

Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease

Lambert JC, Heath S, Even G..., Hiltunen M, Combarros O..., Helisalmi S, Porcellini E..., Licastro F, Soininen H, Ritchie K..., Amouyel P, Hiltunen M, Helisalmi S, Soininen H. 2009. Nature genetics. 41: 1047-1048 A1 Journal article (refereed), original research

Coaccumulation of calcium and b-amyloid in the thalamus after transient middle cerebral artery occlusion in rats

Mäkinen S, van Groen T, Clarke J, Thornell A, Corbett D, Hiltunen M, Soininen H, Jolkkonen J, Hiltunen M, Soininen H. 2008. Journal of cerebral blood flow and metabolism. 28: 263-268 A1 Journal article (refereed), original research

Genetic study between SIRT1, PPARD, PGC-1alfa genes and Alzheimer's disease

Helisalmi S, Vepsäläinen S, Hiltunen M, Koivisto AM, Salminen A, Laakso M, Soininen H, Soininen H. 2008. Journal of neurology. 255: 668-673 A1 Journal article (refereed), original research

Genetic study evaluating LDLR polymorphisms and Alzheimer's disease

Lämsä R, Helisalmi S, Herukka S-K, Tapiola T, Pirttilä T, Vepsäläinen S, Hiltunen M, Soininen H, Pirttilä T, Soininen H. 2008. Neurobiology of aging. 29: 848-855 A1 Journal article (refereed), original research

Increased expression of Abeta degrading enzyme IDE in the cortex of transgenic mice with Alzheimer's disease-like neuropathology

Vepsäläinen S, Hiltunen M, Helisalmi S, Wang J, van Groen T, Tanila H, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2008. Neuroscience letters. 438: 216-220 A1 Journal article (refereed), original research

Lack of genetic association between PPARG gene polymorphisms and Finnish late-onset Alzheimer's disease

Helisalmi S, Tarvainen T, Vepsäläinen S, Koivisto AM, Hiltunen M, Soininen H, Helisalmi S, Hiltunen M, Soininen H. 2008. Neuroscience letters. 441: 233-236 A1 Journal article (refereed), original research

Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease

Blom ES, Viswanathan J, Kilander L, Helisalmi S, Soininen H, Lannfelt L, Ingelsson M, Glaser A, Hiltunen M, Helisalmi S, Soininen H, Hiltunen M. 2008. European journal of human genetics. 16: 171-175 A1 Journal article (refereed), original research

No association between CALHM1 and Alzheimers's disease risk

Bertram L, Schjeide BMM, Hooli B, Mullin K, Hiltunen M, Soininen H, Ingelsson M, Lannfelt L, Blacker D, Tanzi RE, Hiltunen M, Soininen H. 2008. Cell

Depletion of GGA3 stabilizes bace and enhances [beta]-secretase activity

Tesco G, Koh YH, Kang EL, Cameron AN, Das S, Sena-Esteves M, Hiltunen M, Yang S-H, Zhong Z, Shen Y, Simpkins JW, Tanzi RE. 2007. Neuron. 54: 721-737 A1 Journal article (refereed), original research

Insulin-degrading enzyme is genetically associated wirh Alzheimer's disease in the finnish population

Vepsäläinen S, Parkinson M, Helisalmi S, Mannermaa A, Soininen H, Tanzi RE, Bertram L, Hiltunen M, Vepsäläinen S, Helisalmi S, Soininen H, Hiltunen M. 2007. Journal of medical genetics. 44: 606-608 A1 Journal article (refereed), original research

Overexpression of APP provides neuroprotection in the absence of functional benefit following middle cerebral artery occlusion in rats

Clarke J, Thornell A, Corbett D, Soininen H, Hiltunen M, Jolkkonen J, Soininen H. 2007. European journal of neuroscience. 26: 1845-1852 A1 Journal article (refereed), original research

Somatostatin genetic variants modify the risk for Alzheimer¿s disease among finnish patients

Vepsäläinen S, Helisalmi S, Koivisto AM, Tapaninen T, Hiltunen M, Soininen H, Vepsäläinen S, Helisalmi S, Hiltunen M, Soininen H. 2007. Journal of neurology. 254: 1504-1508 A1 Journal article (refereed), original research

Study on the association between SOAT1 polymorphisms, Alzheimer's disease risk and the level of CSF biomarkers

Lämsä R, Helisalmi S, Herukka S-K, Tapiola T, Pirttilä T, Vepsäläinen S, Hiltunen M, Soininen H, Lämsä R, Helisalmi S, Herukka S-K, Pirttilä T, Vepsäläinen S, Hiltunen M, Soininen H. 2007. Dementia and geriatric cognitive disorders. 24: 146-150 A1 Journal article (refereed), original research

The association study between DHCR24 polymorphisms and Alzheimer's disease

Lämsä R, Helisalmi S, Hiltunen M, Herukka S-K, Tapiola T, Pirttilä T, Vepsäläinen S, Soininen H, Soininen H, Lämsä R, Helisalmi S, Herukka S-K, Pirttilä T, Vepsäläinen S. 2007. American journal of medical genetics. Part B : neuropsychiatric genetics. 144B: 906-910 A1 Journal article (refereed), original research

Adiponectin gene haplotype is associated with preeclampsia

Saarela T, Hiltunen M, Helisalmi S, Heinonen S, Laakso M, Laakso M, Hiltunen M, Helisalmi S. 2006. GENETIC TESTING. 10: 35-39 A1 Journal article (refereed), original research

Aromatase enzyme and Alzheimer¿s disease

Hiltunen M, Iivonen S, Soininen H, Hiltunen M, Soininen H. 2006. Minerva endocrinologica. 31: 61-73 A1 Journal article (refereed), original research

Association analysis of peroxisome proliferator-activated receptor gamma polymorphisms and late onset Alzhimer¿s disease in the Finnish population

Koivisto AM, Helisalmi S, Pihlajamäki J, Hiltunen M, Koivisto K, Moilanen L, Kuusisto J, Helkala E-L, Hänninen T, Kervinen K, Kesäniemi YA, Laakso M, Soininen H, Koivisto AM, Helisalmi S, Hiltunen M, Soininen H, Laakso M. 2006. Dementia and geriatric cognitive disorders. 22: 449-453 A1 Journal article (refereed), original research

Association of CYP46 intron 2 polymorphism in Finnish Alzheimer¿s disease samples and a global scale summary

Helisalmi S, Vepsäläinen S, Koivisto AM, Mannermaa A, Iivonen S, Hiltunen M, Kiviniemi V, Soininen H, Helisalmi S, Vepsäläinen S, Koivisto AM, Iivonen S, Hiltunen M, Soininen H. 2006. Journal of neurology neurosurgery and psychiatry. 77: 421-422 A1 Journal article (refereed), original research

Effects of estradiol on spatial learning, hippocampal cytochrome P450 19, and estrogen alpha and beta mRNA levels in ovariectomized female mice

Iivonen S, Heikkinen T, Puoliväli J, Helisalmi S, Hiltunen M, Soininen H, Tanila H, Iivonen S, Helisalmi S, Hiltunen M, Soininen H. 2006. Neuroscience. 137: 1143-1152 A1 Journal article (refereed), original research

Plasma cell membrane glycoprotein-1 K121Qmpolymorphism in preeclampsia

Saarela T, Hiltunen M, Helisalmi S, Heinonen S, Laakso M, Laakso M, Hiltunen M, Helisalmi S. 2006. Gynecologic and obstetric investigation. 61: 124-127 A1 Journal article (refereed), original research

Polymorphisms of interleukin-6, hepatic lipase and calpain-10 genes, and preeclampsia

Saarela T, Hiltunen M, Helisalmi S, Heinonen S, Laakso M, Laakso M, Hiltunen M, Helisalmi S. 2006. European journal of obstetrics and gynecology and reproductive biology. 128: 175-179 A1 Journal article (refereed), original research

APP substitutions V715F and L720P alter PS1 conformation and dirrerentially affect Abeta and AICD generation

Tesco G, Ginestroni A, Hiltunen M, Kim M, Dolios G, Hyman BT, Wang R, Berezovska O, Tanzi RE. 2005. Journal of neurochemistry. 95: 446-456 A1 Journal article (refereed), original research

Estrogen receptor beta gene variants are associated with increased risk of Alzheimer¿s disease in women

Pirskanen M, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2005. European journal of human genetics. 13: 1000-1006 A1 Journal article (refereed), original research

Family-based association between Alzheimer¿s disease and variants in UBQLN1

Bertram L, Hiltunen M, Parkinson M, Ingelsson M, Lange C, Ramasamy K, Mullin K, Menon R, Sampson AJ, Hsiao MY, Elliott KJ, Velicelebi G, Moscarillo T, Hyman BT, Wagner SL, Becker KD, Blacker D, Tanzi RE. 2005. The new england journal of medicine. 352: 884-894 A1 Journal article (refereed), original research

Gene transfer using the mature form of VEGF-D reduces neointimal thickening through nitric oxide-dependent mechanism

Rutanen J, Turunen A-M, Teittinen M, Rissanen TT, Heikura T, Koponen JK, Gruchala M, Inkala M, Jauhiainen S, Hiltunen MO, Turunen MP, Stacker SA, Achen MG, Ylä-Herttuala S. 2005. Gene therapy. 12: 980-987 A1 Journal article (refereed), original research

Genetic analysis on BDNF and TrkB gene polymorphisms in Alzheimer's disease

Vepsäläinen S, Castren E, Helisalmi S, Iivonen S, Mannermaa A, Lehtovirta M, Hänninen T, Soininen H, Hiltunen M, Vepsäläinen S, Helisalmi S, Iivonen S, Soininen H, Hiltunen M. 2005. Journal of neurology. 252: 423-428 A1 Journal article (refereed), original research

Intravascular adenovirus-mediated lipoprotein-associated phospholipase A2 gene transfer reduces neointima formation in balloon-denuded rabbit aorta

Turunen P, Puhakka H, Rutanen J, Hiltunen MO, Heikura T, Gruchala M, Ylä-Herttuala S. 2005. Atherosclerosis. 179: 27-33 A1 Journal article (refereed), original research

Localization of M2 muscarinic receptor protein in parvalbumin and calretinin containing cells of the adult rat entorhinal cortex using two complementary methods

Chaudhuri JD, Hiltunen M, Nykänen M, Ylä-Herttuala S, Soininen H, Miettinen R, Hiltunen M, Soininen H. 2005. Neuroscience. 131: 557-566 A1 Journal article (refereed), original research

Locomotor activity and evoked dopamine release are reduced in mice overexpressing A30P-mutated alpha-synuclein

Yavich L, Oksman M, Tanila H, Kerokoski P, Hiltunen M, van Groen T, Puoliväli J, Männistö PT, García-Horsman A, MacDonald E, Beyreuther K, Hartmann T, Jäkälä P. 2005. Neurobiology of disease. 20: 303-313 A1 Journal article (refereed), original research

Tissue inhibitor of metalloproteinase 1 adenoviral gene therapy alone is equally effective in reducing restenosis as combination gene therapy in a rabbit restenosis model

Puhakka HL, Turunen P, Rutanen J, Hiltunen MO, Turunen MP, Ylä-Herttuala S. 2005. Journal of vascular research. 42: 361-367 A1 Journal article (refereed), original research

Tumour necrosis factor-alpha gene haplotype is associated with pre-eclampsia

Saarela T, Hiltunen M, Helisalmi S, Heinonen S, Laakso M. 2005. Molecular human reproduction. 11: 437-440 A1 Journal article (refereed), original research

Alzheimerin taudin genetiikka

Hiltunen M, Helisalmi S, Kivipelto M, Soininen H, Hiltunen M, Helisalmi S, Soininen H. 2004. Duodecim. 120: 2425-2431 A2 Review article, Literature review, Systematic review

Feline immunodeficiency virus and retrovirus-mediated adventitial ex vivo gene transfer to rabbit carotid artery using autologous vasvular smooth muscle cells

Kankkonen HM, Turunen MP, Hiltunen MO, Lehtolainen P, Koponen J, Leppänen P, Turunen A-M, Ylä-Herttuala S. 2004. Journal of molecular and cellular cardiology. 36: 333-341 A1 Journal article (refereed), original research

Genetic variation in apolipoprotein D and Alzheimer¿s disease

Helisalmi S, Hiltunen M, Vepsäläinen S, Iivonen S, Corder EH, Lehtovirta M, Mannermaa A, Koivisto AM, Soininen H, Helisalmi S, Hiltunen M, Vepsäläinen S, Iivonen S, Koivisto AM, Soininen H. 2004. Journal of neurology. 251: 951-957 A1 Journal article (refereed), original research

Low-activity haplotype of the microsomal epoxide hydrolase gene is protective against placental abruption

Toivonen S, Romppanen E-L, Hiltunen M, Helisalmi S, Keski-Nisula L, Punnonen K, Heinonen S, Helisalmi S. 2004. JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION. 11: 540-544 A1 Journal article (refereed), original research

Oral imatinib mesylate (STI571/gleevec) improves the efficacy of local intravascular vascular endothelial growth factor-C gene transfer in reducing neointimal growth in hypercholesterolemic rabbits

Leppänen O, Rutanen J, Hiltunen MO, Rissanen TT, Turunen MP, Sjöblom T, Brüggen J, Bäckström G, Carlsson M, Buchdunger E, Bergqvist D, Alitalo K, Heldin C-H, Östman A, Ylä-Herttuala S. 2004. Circulation. 109: 1140-1146 A1 Journal article (refereed), original research

Polymorphisms in neprilysin gene affect the risk of Alzheimer¿s disease in Finnish patients

Helisalmi S, Hiltunen M, Vepsäläinen S, Iivonen S, Mannermaa A, Lehtovirta M, Koivisto AM, Alafuzoff I, Soininen H, Helisalmi S, Hiltunen M, Vepsäläinen S, Koivisto AM, Soininen H, Iivonen S. 2004. Journal of neurology neurosurgery and psychiatry. 75: 1746-1748 A1 Journal article (refereed), original research

Polymorphisms in the CYP19 gene confer increased risk for Alzheimer disease

Iivonen S, Corder E, Lehtovirta M, Helisalmi S, Mannermaa A, Vepsäläinen S, Hänninen T, Soininen H, Hiltunen M, Iivonen S, Hiltunen M, Soininen H, Helisalmi S, Vepsäläinen S. 2004. Neurology. 62: 1170-1176 A1 Journal article (refereed), original research

Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population

Helisalmi S, Dermaut B, Hiltunen M, Mannermaa A, Van den Broeck M, Lehtovirta M, Koivisto AM, Iivonen S, Cruts M, Soininen H, Van Broeckhoven C, Soininen H. 2004. Neurology. 63: 173-175 A1 Journal article (refereed), original research

Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation

Faisel F, Romppanen E-L, Hiltunen M, Helisalmi S, Laasanen J, Punnonen K, Salonen JT, Heinonen S, Hiltunen M, Helisalmi S. 2004. European journal of human genetics. 12: 187-191 A1 Journal article (refereed), original research

Absence of association between an intercellular adhesion molecule 1 gene E469K polymorphism and Alzheimer¿s disease in Finnish patients

Mattila KM, Hiltunen M, Rinne JO, Mannermaa A, Röyttä M, Alafuzoff I, Laippala P, Soininen H, Lehtimäki T. 2003. Neuroscience letters. 337: 61-63 A1 Journal article (refereed), original research

Adenovirus-mediated VEGF-A gene transfer induces bone formation in vivo

Hiltunen MO, Ruuskanen M, Huuskonen J, Mähönen AJ, Ahonen M, Rutanen J, Kosma V-M, Mahonen A, Kröger H, Ylä-Herttuala S. 2003. Faseb journal. 17: 1147-1149 A1 Journal article (refereed), original research

Cardiovascular gene therapy

Turunen MP, Hiltunen MO, Ylä-Herttuala S. Teoksessa: Rolland A, Sullivan SM(toim.) , 2003. Pharmaceutical Gene Delivery Systems. s. 345-362. A3 Book section, Chapters in research books

DNA methylation, smooth muscle cells. and atherogenesis

Hiltunen MO, Ylä-Herttuala S. 2003. Arteriosclerosis, thrombosis, and vascular biology. 23: 1750-1753 A1 Journal article (refereed), original research

Heparan sulfate proteoglycan 2 polymorphism in Alzheimer¿s disease and correlation with neuropathology

Iivonen S, Helisalmi S, Mannermaa A, Alafuzoff I, Lehtovirta M, Soininen H, Hiltunen M. 2003. Neuroscience letters. 352: 146-150 A1 Journal article (refereed), original research

Vascular endothelial growth factor-D expression in human atherosclerotic lesions

Rutanen J, Leppänen P, Tuomisto TT, Rissanen TT, Hiltunen MO, Vajanto I, Niemi M, Häkkinen T, Karkola K, Stacker SA, Achen MG, Alitalo K, Ylä-Herttuala S. 2003. Cardiovascular research. 59: 971-979 A1 Journal article (refereed), original research

Changes in gene expression in atherosclerotic plaques analyzed using DNA array

Hiltunen MO, Tuomisto TT, Niemi M, Bräsen JH, Rissanen TT, Törönen P, Vajanto I, Ylä-Herttuala S. 2002. Atherosclerosis. 165: 23-32 A1 Journal article (refereed), original research

DNA hypomethylation and methyltransferase expression in atherosclerotic lesions

Hiltunen MO, Turunen MP, Häkkinen TP, Rutanen J, Hedman M, Mäkinen K, Turunen A-M, Aalto-Setälä K, Ylä-Herttuala S. 2002. Vascular medicine. 7: 5-11 A1 Journal article (refereed), original research

Evaluation of angiogenesis and side effects in ischemic rabbit hindlimbs after intramuscular injection of adenoviral vectors encoding VEGF and LacZ

Vajanto I, Rissanen TT, Rutanen J, Hiltunen MO, Tuomisto TT, Arve K, Närvänen O, Manninen H, Räsänen H, Hippeläinen M, Alhava E, Ylä-Herttuala S. 2002. Journal of gene medicine. 4: 371-380 A1 Journal article (refereed), original research

Expression of vascular endothelial growth factor and vascular endothelial growth factor receptor-2 (KDR/Flk-1) in ischemic skeletal muscle and its regeneration

Rissanen TT, Vajanto I, Hiltunen MO, Rutanen J, Kettunen MI, Niemi M, Leppänen P, Turunen MP, Markkanen JE, Arve K, Alhava E, Kauppinen RA, Ylä-Herttuala S. 2002. American journal of pathology. 160: 1393-1403 A1 Journal article (refereed), original research

Fibrinogen and factor VII promoter polymorphism in women with preeclampsia

Laasanen J, Hiltunen M, Punnonen K, Mannermaa A, Heinonen S. 2002. Obstetrics and gynecology. 100: 317-20 A1 Journal article (refereed), original research

Interleukin 1 alpha gene polymorphism as a suscetibility factor in Alzheimer¿s disease and its influence on the extend of histopathological hallmark lesions of Alzheimer¿s sisease

Pirskanen M, Hiltunen M, Mannermaa A, Iivonen S, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H, Alafuzoff I. 2002. Dementia and geriatric cognitive disorders. 14: 123-127 A1 Journal article (refereed), original research

Lack of association between C-850T polymorphism of the gene encoding tumor necrosis factor-alfa and polycystic ovary syndrome

Korhonen S, Romppanen E-L, Hiltunen M, Mannermaa A, Punnonen K, Hippeläinen M, Heinonen S. 2002. Gynecological endocrinology. 16: 271-274 A1 Journal article (refereed), original research

Molecular genetic analysis of the alpha-synuclein and the parkin gene in Parkinson¿s disease in Finland

Autere JM, Hiltunen MJ, Mannermaa A, Jäkälä PA, Hartikainen PH, Majamaa K, Alafuzoff I, Soininen HS. 2002. European journal of neurology. 9: 479-483 A1 Journal article (refereed), original research

Multidrug resistance 3 gene mutation 1712delT and estrogen receptor alfa gene polymorphisms in Finnish women with obstetric cholestasis

Eloranta M-L, Heiskanen JTM, Hiltunen MJ, Mannermaa AJ, Punnonen KRA, Heinonen ST. 2002. European journal of obstetrics and gynecology and reproductive biology. 104: 109-112 A1 Journal article (refereed), original research

Peptide-retargeted adenovirus encoding a tissue inhibitor of metalloproteinase-1 decreases restenosis after intravascular gene transfer

Turunen MP, Puhakka HL, Koponen JK, Hiltunen MO, Rutanen J, Leppänen O, Turunen A-M, Närvänen A, Newby AC, Baker AH, Ylä-Herttuala S. 2002. Molecular therapy. 6: 306-312 A1 Journal article (refereed), original research

Polymorphism in the peroxisome proliferator-activated receptor-gamma gene in women with preeclampsia

Laasanen J, Heinonen S, Hiltunen M, Mannermaa A, Laakso M. 2002. Early human development. 69: 77-82 A1 Journal article (refereed), original research

Polymorphism in the tumor necrosis factor-alpha gene in women with preeclampsia

Heiskanen J, Romppanen E-L, Hiltunen M, Iivonen S, Mannermaa A, Punnonen K, Heinonen S. 2002. Journal of assisted reproduction and genetics. 19: 220-223 A1 Journal article (refereed), original research

Seladin-1 transcription is linked to neuronal degeneration in Alzheimer¿s disease

Iivonen S, Hiltunen M, Alafuzoff I, Mannermaa A, Kerokoski P, Puoliväli J, Salminen A, Helisalmi S, Soininen H. 2002. Neuroscience. 113: 301-310 A1 Journal article (refereed), original research

Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia

Laasanen J, Romppanen E-L, Hiltunen M, Helisalmi S, Mannermaa A, Punnonen K, Heinonen S. 2002. European journal of human genetics. 10: 569-573 A1 Journal article (refereed), original research

An association between a subset of Finnish late-onset Alzheimer¿s disease and alpha2-macroglobulin

Pirskanen M, Alafuzoff I, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Koivisto AM, Laakso M, Soininen H. 2001. Neurogenetics

Angiographically guided utero-placental gene transfer in rabbits with adenoviruses, plasmid/liposomes and plasmid/polyethyleneimine complexes

Heikkilä A, Hiltunen MO, Turunen MP, Keski-Nisula L, Turunen A-M, Räsänen H, Rissanen TT, Kosma V-M, Manninen H, Heinonen S, Ylä-Herttuala S. 2001. Gene therapy. 8: 784-788 A1 Journal article (refereed), original research

Apolipoprotein E alleles in women with polycystic ovary syndrome

Heinonen S, Korhonen S, Hippeläinen M, Hiltunen M, Mannermaa A, Saarikoski S. 2001. Fertility and sterility. 75: 878-880 A1 Journal article (refereed), original research

Genes, proteins and brain disease

Hiltunen M, Soininen H. 2001. Trends in molecular medicine. 7: 382-383 A2 Review article, Literature review, Systematic review

Genome-wide linkage disequilibrium mapping of late-onset Alzheimr¿s disease in Finland

Hiltunen M, Mannermaa A, Thompson D, Easton D, Pirskanen M, Helisalmi S, Koivisto AM, Lehtovirta M, Ryynänen M, Soininen H. 2001. Neurology. 57: 1663-1668 A1 Journal article (refereed), original research

Insertion-deletion polymorphism in the gene for angiotensin-converting enzyme is associated with obstetric cholestasis but not with preeclampsia

Heiskanen JT, Pirskanen MM, Hiltunen MJ, Mannermaa AJ, Punnonen KR, Heinonen ST. 2001. American journal of obstetrics and gynecology. 185: 600-603 A1 Journal article (refereed), original research

Maternal susceptibility locus for obstetric cholestasis maps to chromosone region 2p13 in finnish patients

Heinonen S, Eloranta M-L, Heiskanen J, Punnonen K, Helisalmi S, Mannermaa A, Hiltunen M. 2001. Scandinavian journal of gastroenterology. 36: 766-770 A1 Journal article (refereed), original research

A Molecular Genetic Study of Factors Involved in Alzheimer¿s Disease

Hiltunen M. 2000. Kuopion yliopisto. Neurologian klinikan julkaisusarja, No G5 Doctoral dissertation (article)

Baculovirus-mediated periadventitial gene transfer to rabbit carotid artery

Airenne KJ, Hiltunen MO, Turunen MP, Turunen A-M, Laitinen OH, Kulomaa MS, Ylä-Herttuala S. 2000. Gene therapy. 7: 1499-1504 A1 Journal article (refereed), original research

Biodistribution of adenoviral vector to nontarget tissues after local in vivo gene transfer to arterial wall using intravastular and periadventitial gene delivery methods

Hiltunen MO, Turunen MP, Turunen A-M, Rissanen TT, Laitinen M, Kosma V-M, Ylä-Herttuala S. 2000. Faseb journal. 14: 2230-2236 A1 Journal article (refereed), original research

Catheter-mediated vascular endothelial growth factor gene transfer to human coronary arteries after angioplasty

Laitinen M, Hartikainen J, Hiltunen MO, Eränen J, Kiviniemi M, Närvänen O, Mäkinen K, Manninen H, Syvänne M, Martin JF, Laakso M, Ylä-Herttuala S. 2000. Human gene therapy. 11: 263-270 A1 Journal article (refereed), original research

Gene Expression in Atherosclerotic Lesions and Therapeutic Strategies Using Gene Transfer

Hiltunen MO. 2000. Kuopio University Publications D. Medical Sciences G5 Doctoral dissertation (article)

Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer¿s disease family: an Alu core sequence-stimulated recombination?

Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. 2000. European journal of human genetics. 8: 259-266 A1 Journal article (refereed), original research

Insights into the molecular pathogenesis of atherosclerosis and therapeutic strategies using gene transfer

Hiltunen MO, Turunen MP, Laitinen M, Ylä-Herttuala S. 2000. Vascular medicine. 5: 41-48 A1 Journal article (refereed), original research

Intravascular adenovirus-mediated VEGF-C gene transfer reduces noeintima formation in balloon-denuded rabbit aorta

Hiltunen MO, Laitinen M, Turunen MP, Jeltsch M, Hartikainen J, Rissanen TT, Laukkanen J, Niemi M, Kossila M, Häkkinen TP, Kivelä A, Enholm B, Mansukoski H, Turunen A-M, Alitalo K, Ylä-Herttuala S. 2000. Circulation. 102: 2262-2268 A1 Journal article (refereed), original research

Periadventitial lacZ gene transfer to pig carotid arteries using a biodegradable collagen collar or a wrap of collagen sheet with adenoviruses and plasmid-liposome complexes

Pakkanen TM, Laitinen M, Hippeläinen M, Hiltunen MO, Alhava E, Ylä-Herttuala S. 2000. Journal of gene medicine. 2: 52-60 A1 Journal article (refereed), original research

The leucine (7)-to-proline (7) polymorphism in the signal peptide of neuropeptide y is not associated with Alzheimer¿s disease or the link apolipoprotein E

Helisalmi S, Valve R, Karvonen MK, Hiltunen M, Pirskanen M, Mannermaa A, Koulu M, Pesonen U, Uusitupa M, Soininen H. 2000. Neuroscience letters. 287: 25-28 A1 Journal article (refereed), original research

Analysis of macrophage scavenger receptor (SR-A) expression in human aortic atherosclerotic lesions

Gough PJ, Greaves DR, Suzuki H, Hakkinen T, Hiltunen MO, Turunen M, Ylä-Herttuala S, Kodama T, Gordon S. 1999. Arteriosclerosis, thrombosis, and vascular biology. 19: 461-471 A1 Journal article (refereed), original research

Efficient adventitial gene delivery to rabbit carotid artery with cationic polymer-plasmid complexes

Turunen MP, Hiltunen MO, Ruponen M, Virkamäki L, Szoka FC Jr, Urtti A, Ylä-Herttuala S. 1999. Gene therapy. 6: 6-11 A1 Journal article (refereed), original research

Functional genomics and DNA array techniques in atherosclerosis research

Hiltunen MO, Niemi M, Ylä-Herttuala S. 1999. Current opinion in lipidology. 10: 515-519 A1 Journal article (refereed), original research

Geeniterapia ja sen mahdollisuudet verisuonitautien hoidossa

Turunen M, Hiltunen M, Ylä-Herttuala S. 1999. KEMIA-KEMI. 26: 186-188 D1 Article in a trade journal

Gene therapy for angiogenesis, restenosis and related diseases

Turunen MP, Hiltunen MO, Ylä-Herttuala S. 1999. Experimental gerontology. 34: 567-574 A1 Journal article (refereed), original research

Improved gene transfer efficiency in liver with vesicular stomatitis virus G-protein pseudotyped retrovirus after partial liver resection and thymidine kinase-ganciclovir pre-treatment

Pakkanen TM, Laitinen M, Hippeläinen M, Hiltunen MO, Lehtolainen P, Leppänen P, Luoma JS, Alhava E, Ylä-Herttuala S. 1999. Pharmacological research. 40: 451-457 A1 Journal article (refereed), original research

Lipoprotein-associated phospholipase A2, platelet-activating factor acetylhydrolase, is expressed by macrophages in human and rabbit atherosclerotic lesions

Häkkinen T, Luoma JS, Hiltunen MO, Macphee CH, Milliner KJ, Patel L, Rice SQ, Tew DG, Karkola K, Ylä-Herttuala S. 1999. Arteriosclerosis, thrombosis, and vascular biology. 19: 2909-2917 A1 Journal article (refereed), original research

Local hypomethylation in atherosclerosis found in rabbit ec-sod gene

Laukkanen MO, Mannermaa S, Hiltunen MO, Aittomäki S, Airenne K, Jänne J, Ylä-Herttuala S. 1999. Arteriosclerosis, thrombosis, and vascular biology. 19: 2171-2178 A1 Journal article (refereed), original research

Geeniterapia verisuonitautien hoidossa

Hiltunen MO, Turunen MP, Ylä-Herttuala S. 1998. Dosis. 14: 202-206 D1 Article in a trade journal

High-level expression of bovine beta-lactoglobulin gene in transgenic mice

Hyttinen J-M, Korhonen V-P, Hiltunen MO, Myöhänen S, Jänne J. 1998. Journal of biotechnology. 61: 191-198 A1 Journal article (refereed), original research

Kani eläinmallina ateroskleroosin geeniterapiatutkimuksissa

Hiltunen MO, Ylä-Herttuala S. 1998. KOEKUKKO. KUOPION YLIOPISTO. VALTAKUNNALLINEN KOE-ELÄINKESKUS. 18: 28-32 D1 Article in a trade journal

Hypermethylation of the APC (adenomatous polyposis coli) gene promoter region in human colorectal carcinoma

Hiltunen MO, Alhonen L, Koistinaho J, Myöhänen S, Pääkkönen M, Marin S, Kosma V-M, Jänne J. 1997. International journal of cancer. 70: 644-648 A1 Journal article (refereed), original research

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Projects

A Small TAT-TrkB Peptide Prevents BDNF Receptor Cleavage and Restores Synaptic Physiology in Alzheimer’s Disease

A genome-wide association meta-analysis of all-cause and vascular dementia

Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial

DPYSL5 is highly expressed in treatment-induced neuroendocrine prostate cancer and promotes lineage plasticity via EZH2/PRC2

Deep learning assisted quantitative analysis of Aβ and microglia in patients with idiopathic normal pressure hydrocephalus in relation to cognitive outcome

Exploring the Association Between Visual Field Testing and CERAD Neuropsychological Battery in Idiopathic Normal Pressure Hydrocephalus Patients

Human iPSC-derived pericyte-like cells carrying APP Swedish mutation overproduce beta-amyloid and induce cerebral amyloid angiopathy-like changes

Risk Variants Associated With Normal Pressure Hydrocephalus: Genome-Wide Association Study in the FinnGen Cohort

TWINGEN: protocol for an observational clinical biobank recall and biomarker cohort study to identify Finnish individuals with high risk of Alzheimer’s disease

X‐chromosome-wide association study for Alzheimer’s disease

A FinnGen pilot clinical recall study for Alzheimer’s disease

Association of MGMT and BIN1 genes with Alzheimer's disease risk across sex and APOE ε4 status

Cerebrospinal Fluid Diagnostics of Alzheimer's Disease in Patients with Idiopathic Normal Pressure Hydrocephalus

Cognitive and biomarker responses in healthy older adults to a 18-hole golf round and different walking types: a randomised cross-over study

Concordance of Alzheimer’s Disease-Related Biomarkers Between Intraventricular and Lumbar Cerebrospinal Fluid in Idiopathic Normal Pressure Hydrocephalus

Early Alzheimer's disease pathology in human cortex involves transient cell states

Gene Expression Profile as a Predictor of Seizure Liability

Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Normaalipaineisen hydrokefaluksen arvoitus

Organotypic Hippocampal Slice Cultures from Adult Tauopathy Mice and Theragnostic Evaluation of Nanomaterial Phospho-TAU Antibody-Conjugates

Protective Alzheimer's disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models

Treatment of Status Epilepticus after Traumatic Brain Injury Using an Antiseizure Drug Combined with a Tissue Recovery Enhancer Revealed by Systems Biology

Alzheimerin taudin hoidossa ollaan lähellä läpimurtoa

Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

Cerebrospinal fluid biomarkers that reflect clinical symptoms in idiopathic normal pressure hydrocephalus patients

Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping

Enhanced drug delivery by a prodrug approach effectively relieves neuroinflammation in mice

Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

NDUFA1 p.Gly32Arg variant in early-onset dementia

Neuropathological findings in possible normal pressure hydrocephalus: A post-mortem study of 29 cases with lifelines

New insights into the genetic etiology of Alzheimer’s disease and related dementias

A Novel Genetic Marker for the C9orf72 Repeat Expansion in the Finnish Population

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Alzheimerin taudin uudet riskigeenit - keskiössä mikrogliasolut

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population

C9orf72 hexanucleotide repeat expansion leads to altered neuronal and dendritic spine morphology and synaptic dysfunction

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

Elevated CSF LRG and Decreased Alzheimer's Disease Biomarkers in Idiopathic Normal Pressure Hydrocephalus

Expression of C9orf72 hexanucleotide repeat expansion leads to formation of RNA foci and dipeptide repeat proteins but does not influence autophagy or proteasomal function in neuronal cells

FTLD Patient-Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Isoflurane affects brain functional connectivity in rats 1 month after exposure

Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers

MECP2 Increases the Pro-Inflammatory Response of Microglial Cells and Phosphorylation at Serine 423 Regulates Neuronal Gene Expression upon Neuroinflammation

Mikrogliasolut hoidon kohteeksi hermoston rappeumasairauksissa

Novel Rare SORL1 Variants in Early-Onset Dementia

S327 phosphorylation of the presynaptic protein SEPTIN5 increases in the early stages of neurofibrillary pathology and alters the functionality of SEPTIN5

Sleep apnoea is a risk factor for severe COVID-19

Targeting Oxidative Stress with Antioxidant Duotherapy after Experimental Traumatic Brain Injury

The CERAD Neuropsychological Battery in Patients with Idiopathic Normal Pressure Hydrocephalus Compared with Normal Population and Patients with Mild Alzheimer's Disease

Time Trends of Cerebrospinal Fluid Biomarkers of Neurodegeneration in Idiopathic Normal Pressure Hydrocephalus

iNPH - the mystery resolving

A structural variation reference for medical and population genetics

Alzheimer's genetic risk factor FERMT2 (Kindlin-2) controls axonal growth and synaptic plasticity in an APP-dependent manner

BV-2 Microglial Cells Overexpressing C9orf72 Hexanucleotide Repeat Expansion Produce DPR Proteins and Show Normal Functionality but No RNA Foci

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case-control comparison with family members

Diabetic phenotype in mouse and humans reduces the number of microglia around ß-amyloid plaques

Evaluating drug targets through human loss-of-function genetic variation

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Metabolic Profiles Help Discriminate Mild Cognitive Impairment from Dementia Stage in Alzheimer's Disease.

Mutation Analysis of the Genes Associated With Parkinson's Disease in a Finnish Cohort of Early-Onset Dementia

PTPR type Q in cerebrospinal fluid reflects ependymal cells dysfunction and is a potential biomarker for adult chronic hydrocephalus

Presynaptic Vesicle Protein SEPTIN5 Regulates the Degradation of APP C-Terminal Fragments and the Levels of Aß

The Alzheimer's disease-associated protective Plcγ2-P522R variant promotes immune functions

The effect of LRRK2 loss-of-function variants in humans

The mutational constraint spectrum quantified from variation in 141,456 humans

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Transcript expression-aware annotation improves rare variant interpretation

Altered Insulin Signaling in Alzheimer's Disease Brain - Special Emphasis on PI3K-Akt Pathway

Astrocytes and Microglia as Potential Contributors to the Pathogenesis of C9orf72 Repeat Expansion-Associated FTLD and ALS