Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study

by Rowmika Ravi, Lilian Fernandes Silva, Jagadish Vangipurapu, Maleeha Maria, Joose Raivo, Seppo Helisalmi, Markku Laakso
Published 2022-05-01

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation

by Christiane Auray-Blais, Kati Valtola, Marja Hedman, Maleeha Maria, Ilkka Kantola, Johanna Kuusisto, Seppo Helisalmi, Susanne Walls, Joose Raivo
Published 2023-02-01

Molecular epidemiology of hereditary ataxia in Finland

by Joonas Lipponen, Seppo Helisalmi, Joose Raivo, Ari Siitonen, Hiroshi Doi, Harri Rusanen, Maria Lehtilahti, Mervi Ryytty, Markku Laakso, Fumiaki Tanaka, Kari Majamaa, Laura Kytövuori
Published 2021-10-01

Cerebrospinal Fluid TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Patients with and without the C9ORF72 Hexanucleotide Expansion

by Anna Junttila, Mari Kuvaja, Päivi Hartikainen, Maritta Siloaho, Seppo Helisalmi, Virpi Moilanen, Anna Kiviharju, Lilja Jansson, Pentti J. Tienari, Anne Marja Remes, Sanna-Kaisa Herukka
Published 2016-04-01

Effects of NR1H3 genetic variation on the expression of liver X receptor α and the progression of Alzheimer's disease.

by Teemu Natunen, Henna Martiskainen, Timo Sarajärvi, Seppo Helisalmi, Juha-Pekka Pursiheimo, Jayashree Viswanathan, Marjo Laitinen, Petra Mäkinen, Tarja Kauppinen, Tuomas Rauramaa, Ville Leinonen, Irina Alafuzoff, Annakaisa Haapasalo, Hilkka Soininen, Mikko Hiltunen
Published 2013-01-01

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

by Lyzel S Elias-Sonnenschein, Seppo Helisalmi, Teemu Natunen, Anette Hall, Teemu Paajanen, Sanna-Kaisa Herukka, Marjo Laitinen, Anne M Remes, Anne M Koivisto, Kari M Mattila, Terho Lehtimäki, Frans R J Verhey, Pieter Jelle Visser, Hilkka Soininen, Mikko Hiltunen
Published 2013-01-01

Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype

by Kasper Katisko, Nadine Huber, Tarja Kokkola, Päivi Hartikainen, Johanna Krüger, Anna-Leena Heikkinen, Veera Paananen, Ville Leinonen, Ville E. Korhonen, Seppo Helisalmi, Sanna-Kaisa Herukka, Valentina Cantoni, Yasmine Gadola, Silvana Archetti, Anne M. Remes, Annakaisa Haapasalo, Barbara Borroni, Eino Solje
Published 2022-10-01

Automatic MRI Quantifying Methods in Behavioral-Variant Frontotemporal Dementia Diagnosis

by Antti Cajanus, Anette Hall, Juha Koikkalainen, Eino Solje, Antti Tolonen, Timo Urhemaa, Yawu Liu, Ramona M. Haanpää, Päivi Hartikainen, Seppo Helisalmi, Ville Korhonen, Daniel Rueckert, Steen Hasselbalch, Gunhild Waldemar, Patrizia Mecocci, Ritva Vanninen, Mark van Gils, Hilkka Soininen, Jyrki Lötjönen, Anne M. Remes
Published 2018-02-01

Detecting Amyloid Positivity in Elderly With Increased Risk of Cognitive Decline

by Timo Pekkala, Anette Hall, Tiia Ngandu, Tiia Ngandu, Mark van Gils, Seppo Helisalmi, Tuomo Hänninen, Nina Kemppainen, Nina Kemppainen, Yawu Liu, Yawu Liu, Jyrki Lötjönen, Teemu Paajanen, Juha O. Rinne, Juha O. Rinne, Hilkka Soininen, Hilkka Soininen, Miia Kivipelto, Miia Kivipelto, Miia Kivipelto, Miia Kivipelto, Alina Solomon, Alina Solomon
Published 2020-07-01

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

by Joel Räsänen, Joel Huovinen, Ville E. Korhonen, Antti Junkkari, Sami Kastinen, Simo Komulainen, Minna Oinas, Cecilia Avellan, Janek Frantzen, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Kimmo Lönnrot, Markus Perola, Anne M. Koivisto, Anne M. Remes, Hilkka Soininen, Mikko Hiltunen, Seppo Helisalmi, Mitja I. Kurki, Juha E. Jääskeläinen, Ville Leinonen
Published 2020-09-01

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

by Jan Rehker, Johanna Rodhe, Ryan R Nesbitt, Evan A Boyle, Beth K Martin, Jenny Lord, Ilker Karaca, Adam Naj, Frank Jessen, Seppo Helisalmi, Hilkka Soininen, Mikko Hiltunen, Alfredo Ramirez, Martin Scherer, Lindsay A Farrer, Jonathan L Haines, Margaret A Pericak-Vance, Wendy H Raskind, Carlos Cruchaga, Gerard D Schellenberg, Bertrand Joseph, Zoran Brkanac
Published 2017-01-01

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

by Fanny Rubio-Moscardo, Núria Setó-Salvia, Marta Pera, Mònica Bosch-Morató, Cristina Plata, Olivia Belbin, Olivia Belbin, Gemma Gené, Oriol Dols-Icardo, Martin Ingelsson, Seppo Helisalmi, Hilkka Soininen, Mikko Hiltunen, Vilmantas Giedraitis, Lars Lannfelt, Ana Frank, Ma Jesús Bullido, Onofre Combarros, Pascual Sánchez-Juan, Mercè Boada, Lluís Tárraga, Pau Pastor, Jordi Pérez-Tur, Miquel Baquero, José L Molinuevo, Raquel Sánchez-Valle, Pablo Fuentes-Prior, Juan Fortea, Rafael Blesa, Francisco J Muñoz, Alberto Lleó, Miguel A Valverde, Jordi Clarimón
Published 2013-01-01

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

by Mitja I Kurki, Emília Ilona Gaál, Johannes Kettunen, Tuuli Lappalainen, Androniki Menelaou, Verneri Anttila, Femke N G van 't Hof, Mikael von Und Zu Fraunberg, Seppo Helisalmi, Mikko Hiltunen, Hanna Lehto, Aki Laakso, Riku Kivisaari, Timo Koivisto, Antti Ronkainen, Jaakko Rinne, Lambertus A L Kiemeney, Sita H Vermeulen, Mari A Kaunisto, Johan G Eriksson, Arpo Aromaa, Markus Perola, Terho Lehtimäki, Olli T Raitakari, Veikko Salomaa, Murat Gunel, Emmanouil T Dermitzakis, Ynte M Ruigrok, Gabriel J E Rinkel, Mika Niemelä, Juha Hernesniemi, Samuli Ripatti, Paul I W de Bakker, Aarno Palotie, Juha E Jääskeläinen
Published 2014-01-01

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

by Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M. Tankard, Joshua C. Bis, Rebecca Sims, Céline Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Manuel Menéndez-González, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García-González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C. Naj, Afina W. Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A. L. Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L. DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M. Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge G. Nordestgaard, Brian W. Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B. Ferreira, Caterina Chillotti, Chandra A. Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbæk, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K. Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan L. Haines, Jonathan Vogelgsang, Juan A. Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A. Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M. Arfan Ikram, M. Candida Deniz-Naranjo, Magda Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A. Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M. Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J. Herrmann, Martin Scherer, Martin Vyhnalek, Mary H. Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T. Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M. van Schoor, Nazib M. Seidu, Nerisa Banaj, Nicola J. Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Per Hoffmann, Peter A. Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N. Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A. L. Pijnenburg, EADB contributors, The GR@ACE study group, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez-Juan, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose María García-Alberca, María J. Bullido, Victoria Álvarez, Alberto Lleó, Luis M. Real, Pablo Mir, Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Philippe Amouyel, Gerard D. Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M. van Duijn, Karen A. Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole A. Andreassen, Danielle Posthuma, Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz
Published 2021-06-01

Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

by Itziar de Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E. Jansen, Nancy L. Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M. Tankard, Joshua C. Bis, Rebecca Sims, Céline Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Manuel Menéndez-González, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García-González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C. Naj, Afina W. Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A. L. Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L. DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M. Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge G. Nordestgaard, Brian W. Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B. Ferreira, Caterina Chillotti, Chandra A. Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L. Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodriguez-Rodriguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbæk, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K. Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sebastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Johannes Kornhuber, Jonathan L. Haines, Jonathan Vogelgsang, Juan A. Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A. Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, M. Arfan Ikram, M. Candida Deniz-Naranjo, Magda Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A. Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M. Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J. Herrmann, Martin Scherer, Martin Vyhnalek, Mary H. Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T. Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M. van Schoor, Nazib M. Seidu, Nerisa Banaj, Nicola J. Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter A. Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N. Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A. L. Pijnenburg, EADB contributors, The GR@ACE study group, DEGESCO consortium, IGAP (ADGC, CHARGE, EADI, GERAD), PGC-ALZ consortia, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez-Juan, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose María García-Alberca, María J. Bullido, Victoria Álvarez, Alberto Lleó, Luis M. Real, Pablo Mir, Miguel Medina, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Philippe Amouyel, Gerard D. Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M. van Duijn, Karen A. Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole A. Andreassen, Danielle Posthuma, Jordi Clarimón, Mercè Boada, Wiesje M. van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J. van der Lee, Agustín Ruiz
Published 2023-02-01