Dominique Campion

Dominique Campion

UNVERIFIED PROFILE

Are you Dominique Campion?   Register this Author

Register author
Dominique Campion

Dominique Campion

Publications by authors named "Dominique Campion"

Are you Dominique Campion?   Register this Author

100Publications

4360Reads

46Profile Views

SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data.

Acta Neuropathol 2019 Aug 25;138(2):173-186. Epub 2019 Mar 25.

Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, 76000, Rouen, France.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00401-019-01991-4
Publisher Site
http://dx.doi.org/10.1007/s00401-019-01991-4DOI Listing
August 2019

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 Aug 15. Epub 2019 Aug 15.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
August 2019

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

Authors:
Brian W Kunkle Benjamin Grenier-Boley Rebecca Sims Joshua C Bis Vincent Damotte Adam C Naj Anne Boland Maria Vronskaya Sven J van der Lee Alexandre Amlie-Wolf Céline Bellenguez Aura Frizatti Vincent Chouraki Eden R Martin Kristel Sleegers Nandini Badarinarayan Johanna Jakobsdottir Kara L Hamilton-Nelson Sonia Moreno-Grau Robert Olaso Rachel Raybould Yuning Chen Amanda B Kuzma Mikko Hiltunen Taniesha Morgan Shahzad Ahmad Badri N Vardarajan Jacques Epelbaum Per Hoffmann Merce Boada Gary W Beecham Jean-Guillaume Garnier Denise Harold Annette L Fitzpatrick Otto Valladares Marie-Laure Moutet Amy Gerrish Albert V Smith Liming Qu Delphine Bacq Nicola Denning Xueqiu Jian Yi Zhao Maria Del Zompo Nick C Fox Seung-Hoan Choi Ignacio Mateo Joseph T Hughes Hieab H Adams John Malamon Florentino Sanchez-Garcia Yogen Patel Jennifer A Brody Beth A Dombroski Maria Candida Deniz Naranjo Makrina Daniilidou Gudny Eiriksdottir Shubhabrata Mukherjee David Wallon James Uphill Thor Aspelund Laura B Cantwell Fabienne Garzia Daniela Galimberti Edith Hofer Mariusz Butkiewicz Bertrand Fin Elio Scarpini Chloe Sarnowski Will S Bush Stéphane Meslage Johannes Kornhuber Charles C White Yuenjoo Song Robert C Barber Sebastiaan Engelborghs Sabrina Sordon Dina Voijnovic Perrie M Adams Rik Vandenberghe Manuel Mayhaus L Adrienne Cupples Marilyn S Albert Peter P De Deyn Wei Gu Jayanadra J Himali Duane Beekly Alessio Squassina Annette M Hartmann Adelina Orellana Deborah Blacker Eloy Rodriguez-Rodriguez Simon Lovestone Melissa E Garcia Rachelle S Doody Carmen Munoz-Fernadez Rebecca Sussams Honghuang Lin Thomas J Fairchild Yolanda A Benito Clive Holmes Hata Karamujić-Čomić Matthew P Frosch Hakan Thonberg Wolfgang Maier Gennady Roshchupkin Bernardino Ghetti Vilmantas Giedraitis Amit Kawalia Shuo Li Ryan M Huebinger Lena Kilander Susanne Moebus Isabel Hernández M Ilyas Kamboh RoseMarie Brundin James Turton Qiong Yang Mindy J Katz Letizia Concari Jenny Lord Alexa S Beiser C Dirk Keene Seppo Helisalmi Iwona Kloszewska Walter A Kukull Anne Maria Koivisto Aoibhinn Lynch Lluís Tarraga Eric B Larson Annakaisa Haapasalo Brian Lawlor Thomas H Mosley Richard B Lipton Vincenzo Solfrizzi Michael Gill W T Longstreth Thomas J Montine Vincenza Frisardi Monica Diez-Fairen Fernando Rivadeneira Ronald C Petersen Vincent Deramecourt Ignacio Alvarez Francesca Salani Antonio Ciaramella Eric Boerwinkle Eric M Reiman Nathalie Fievet Jerome I Rotter Joan S Reisch Olivier Hanon Chiara Cupidi A G Andre Uitterlinden Donald R Royall Carole Dufouil Raffaele Giovanni Maletta Itziar de Rojas Mary Sano Alexis Brice Roberta Cecchetti Peter St George-Hyslop Karen Ritchie Magda Tsolaki Debby W Tsuang Bruno Dubois David Craig Chuang-Kuo Wu Hilkka Soininen Despoina Avramidou Roger L Albin Laura Fratiglioni Antonia Germanou Liana G Apostolova Lina Keller Maria Koutroumani Steven E Arnold Francesco Panza Olymbia Gkatzima Sanjay Asthana Didier Hannequin Patrice Whitehead Craig S Atwood Paolo Caffarra Harald Hampel Inés Quintela Ángel Carracedo Lars Lannfelt David C Rubinsztein Lisa L Barnes Florence Pasquier Lutz Frölich Sandra Barral Bernadette McGuinness Thomas G Beach Janet A Johnston James T Becker Peter Passmore Eileen H Bigio Jonathan M Schott Thomas D Bird Jason D Warren Bradley F Boeve Michelle K Lupton James D Bowen Petra Proitsi Adam Boxer John F Powell James R Burke John S K Kauwe Jeffrey M Burns Michelangelo Mancuso Joseph D Buxbaum Ubaldo Bonuccelli Nigel J Cairns Andrew McQuillin Chuanhai Cao Gill Livingston Chris S Carlson Nicholas J Bass Cynthia M Carlsson John Hardy Regina M Carney Jose Bras Minerva M Carrasquillo Rita Guerreiro Mariet Allen Helena C Chui Elizabeth Fisher Carlo Masullo Elizabeth A Crocco Charles DeCarli Gina Bisceglio Malcolm Dick Li Ma Ranjan Duara Neill R Graff-Radford Denis A Evans Angela Hodges Kelley M Faber Martin Scherer Kenneth B Fallon Matthias Riemenschneider David W Fardo Reinhard Heun Martin R Farlow Heike Kölsch Steven Ferris Markus Leber Tatiana M Foroud Isabella Heuser Douglas R Galasko Ina Giegling Marla Gearing Michael Hüll Daniel H Geschwind John R Gilbert John Morris Robert C Green Kevin Mayo John H Growdon Thomas Feulner Ronald L Hamilton Lindy E Harrell Dmitriy Drichel Lawrence S Honig Thomas D Cushion Matthew J Huentelman Paul Hollingworth Christine M Hulette Bradley T Hyman Rachel Marshall Gail P Jarvik Alun Meggy Erin Abner Georgina E Menzies Lee-Way Jin Ganna Leonenko Luis M Real Gyungah R Jun Clinton T Baldwin Detelina Grozeva Anna Karydas Giancarlo Russo Jeffrey A Kaye Ronald Kim Frank Jessen Neil W Kowall Bruno Vellas Joel H Kramer Emma Vardy Frank M LaFerla Karl-Heinz Jöckel James J Lah Martin Dichgans James B Leverenz David Mann Allan I Levey Stuart Pickering-Brown Andrew P Lieberman Norman Klopp Kathryn L Lunetta H-Erich Wichmann Constantine G Lyketsos Kevin Morgan Daniel C Marson Kristelle Brown Frank Martiniuk Christopher Medway Deborah C Mash Markus M Nöthen Eliezer Masliah Nigel M Hooper Wayne C McCormick Antonio Daniele Susan M McCurry Anthony Bayer Andrew N McDavid John Gallacher Ann C McKee Hendrik van den Bussche Marsel Mesulam Carol Brayne Bruce L Miller Steffi Riedel-Heller Carol A Miller Joshua W Miller Ammar Al-Chalabi John C Morris Christopher E Shaw Amanda J Myers Jens Wiltfang Sid O'Bryant John M Olichney Victoria Alvarez Joseph E Parisi Andrew B Singleton Henry L Paulson John Collinge William R Perry Simon Mead Elaine Peskind David H Cribbs Martin Rossor Aimee Pierce Natalie S Ryan Wayne W Poon Benedetta Nacmias Huntington Potter Sandro Sorbi Joseph F Quinn Eleonora Sacchinelli Ashok Raj Gianfranco Spalletta Murray Raskind Carlo Caltagirone Paola Bossù Maria Donata Orfei Barry Reisberg Robert Clarke Christiane Reitz A David Smith John M Ringman Donald Warden Erik D Roberson Gordon Wilcock Ekaterina Rogaeva Amalia Cecilia Bruni Howard J Rosen Maura Gallo Roger N Rosenberg Yoav Ben-Shlomo Mark A Sager Patrizia Mecocci Andrew J Saykin Pau Pastor Michael L Cuccaro Jeffery M Vance Julie A Schneider Lori S Schneider Susan Slifer William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Mitchell Tang Rudolph E Tanzi John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Yasaman Saba Alberto Pilotto Maria J Bullido Oliver Peters Paul K Crane David Bennett Paola Bosco Eliecer Coto Virginia Boccardi Phil L De Jager Alberto Lleo Nick Warner Oscar L Lopez Martin Ingelsson Panagiotis Deloukas Carlos Cruchaga Caroline Graff Rhian Gwilliam Myriam Fornage Alison M Goate Pascual Sanchez-Juan Patrick G Kehoe Najaf Amin Nilifur Ertekin-Taner Claudine Berr Stéphanie Debette Seth Love Lenore J Launer Steven G Younkin Jean-Francois Dartigues Chris Corcoran M Arfan Ikram Dennis W Dickson Gael Nicolas Dominique Campion JoAnn Tschanz Helena Schmidt Hakon Hakonarson Jordi Clarimon Ron Munger Reinhold Schmidt Lindsay A Farrer Christine Van Broeckhoven Michael C O'Donovan Anita L DeStefano Lesley Jones Jonathan L Haines Jean-Francois Deleuze Michael J Owen Vilmundur Gudnason Richard Mayeux Valentina Escott-Price Bruce M Psaty Alfredo Ramirez Li-San Wang Agustin Ruiz Cornelia M van Duijn Peter A Holmans Sudha Seshadri Julie Williams Phillippe Amouyel Gerard D Schellenberg Jean-Charles Lambert Margaret A Pericak-Vance

Nat Genet 2019 03 28;51(3):414-430. Epub 2019 Feb 28.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-019-0358-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6463297PMC
March 2019

Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient.

J Alzheimers Dis 2018 ;62(2):821-831

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-170981DOI Listing
February 2019

Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease.

J Alzheimers Dis 2019 ;68(3):1243-1255

Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-180940DOI Listing
January 2019

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimers Dement 2018 Dec 13;14(12):1632-1639. Epub 2018 Aug 13.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jalz.2018.06.3056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6544509PMC
December 2018

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila.

Acta Neuropathol Commun 2018 12 12;6(1):138. Epub 2018 Dec 12.

Normandie University, UNIROUEN, Inserm, U1245, IRIB, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40478-018-0639-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292132PMC
December 2018

FTLD/ALS-linked TDP-43 mutations do not alter TDP-43's ability to self-regulate its expression in Drosophila.

Brain Res 2018 09 17;1695:1-9. Epub 2018 May 17.

Normandie University, UNIROUEN, Inserm, U1245, IRIB, Rouen, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.brainres.2018.05.021DOI Listing
September 2018

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

Authors:
Joshua C Bis Xueqiu Jian Brian W Kunkle Yuning Chen Kara L Hamilton-Nelson William S Bush William J Salerno Daniel Lancour Yiyi Ma Alan E Renton Edoardo Marcora John J Farrell Yi Zhao Liming Qu Shahzad Ahmad Najaf Amin Philippe Amouyel Gary W Beecham Jennifer E Below Dominique Campion Camille Charbonnier Jaeyoon Chung Paul K Crane Carlos Cruchaga L Adrienne Cupples Jean-François Dartigues Stéphanie Debette Jean-François Deleuze Lucinda Fulton Stacey B Gabriel Emmanuelle Genin Richard A Gibbs Alison Goate Benjamin Grenier-Boley Namrata Gupta Jonathan L Haines Aki S Havulinna Seppo Helisalmi Mikko Hiltunen Daniel P Howrigan M Arfan Ikram Jaakko Kaprio Jan Konrad Amanda Kuzma Eric S Lander Mark Lathrop Terho Lehtimäki Honghuang Lin Kari Mattila Richard Mayeux Donna M Muzny Waleed Nasser Benjamin Neale Kwangsik Nho Gaël Nicolas Devanshi Patel Margaret A Pericak-Vance Markus Perola Bruce M Psaty Olivier Quenez Farid Rajabli Richard Redon Christiane Reitz Anne M Remes Veikko Salomaa Chloe Sarnowski Helena Schmidt Michael Schmidt Reinhold Schmidt Hilkka Soininen Timothy A Thornton Giuseppe Tosto Christophe Tzourio Sven J van der Lee Cornelia M van Duijn Badri Vardarajan Weixin Wang Ellen Wijsman Richard K Wilson Daniela Witten Kim C Worley Xiaoling Zhang Celine Bellenguez Jean-Charles Lambert Mitja I Kurki Aarno Palotie Mark Daly Eric Boerwinkle Kathryn L Lunetta Anita L Destefano Josée Dupuis Eden R Martin Gerard D Schellenberg Sudha Seshadri Adam C Naj Myriam Fornage Lindsay A Farrer

Mol Psychiatry 2018 Aug 14. Epub 2018 Aug 14.

Departments of Biostatistics, Boston University School of Public Health, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41380-018-0112-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375806PMC
August 2018

Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):68-74. Epub 2017 Nov 20.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.b.32605
Publisher Site
http://dx.doi.org/10.1002/ajmg.b.32605DOI Listing
January 2018

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

Authors:
Rebecca Sims Sven J van der Lee Adam C Naj Céline Bellenguez Nandini Badarinarayan Johanna Jakobsdottir Brian W Kunkle Anne Boland Rachel Raybould Joshua C Bis Eden R Martin Benjamin Grenier-Boley Stefanie Heilmann-Heimbach Vincent Chouraki Amanda B Kuzma Kristel Sleegers Maria Vronskaya Agustin Ruiz Robert R Graham Robert Olaso Per Hoffmann Megan L Grove Badri N Vardarajan Mikko Hiltunen Markus M Nöthen Charles C White Kara L Hamilton-Nelson Jacques Epelbaum Wolfgang Maier Seung-Hoan Choi Gary W Beecham Cécile Dulary Stefan Herms Albert V Smith Cory C Funk Céline Derbois Andreas J Forstner Shahzad Ahmad Hongdong Li Delphine Bacq Denise Harold Claudia L Satizabal Otto Valladares Alessio Squassina Rhodri Thomas Jennifer A Brody Liming Qu Pascual Sánchez-Juan Taniesha Morgan Frank J Wolters Yi Zhao Florentino Sanchez Garcia Nicola Denning Myriam Fornage John Malamon Maria Candida Deniz Naranjo Elisa Majounie Thomas H Mosley Beth Dombroski David Wallon Michelle K Lupton Josée Dupuis Patrice Whitehead Laura Fratiglioni Christopher Medway Xueqiu Jian Shubhabrata Mukherjee Lina Keller Kristelle Brown Honghuang Lin Laura B Cantwell Francesco Panza Bernadette McGuinness Sonia Moreno-Grau Jeremy D Burgess Vincenzo Solfrizzi Petra Proitsi Hieab H Adams Mariet Allen Davide Seripa Pau Pastor L Adrienne Cupples Nathan D Price Didier Hannequin Ana Frank-García Daniel Levy Paramita Chakrabarty Paolo Caffarra Ina Giegling Alexa S Beiser Vilmantas Giedraitis Harald Hampel Melissa E Garcia Xue Wang Lars Lannfelt Patrizia Mecocci Gudny Eiriksdottir Paul K Crane Florence Pasquier Virginia Boccardi Isabel Henández Robert C Barber Martin Scherer Lluis Tarraga Perrie M Adams Markus Leber Yuning Chen Marilyn S Albert Steffi Riedel-Heller Valur Emilsson Duane Beekly Anne Braae Reinhold Schmidt Deborah Blacker Carlo Masullo Helena Schmidt Rachelle S Doody Gianfranco Spalletta W T Longstreth Thomas J Fairchild Paola Bossù Oscar L Lopez Matthew P Frosch Eleonora Sacchinelli Bernardino Ghetti Qiong Yang Ryan M Huebinger Frank Jessen Shuo Li M Ilyas Kamboh John Morris Oscar Sotolongo-Grau Mindy J Katz Chris Corcoran Melanie Dunstan Amy Braddel Charlene Thomas Alun Meggy Rachel Marshall Amy Gerrish Jade Chapman Miquel Aguilar Sarah Taylor Matt Hill Mònica Díez Fairén Angela Hodges Bruno Vellas Hilkka Soininen Iwona Kloszewska Makrina Daniilidou James Uphill Yogen Patel Joseph T Hughes Jenny Lord James Turton Annette M Hartmann Roberta Cecchetti Chiara Fenoglio Maria Serpente Marina Arcaro Carlo Caltagirone Maria Donata Orfei Antonio Ciaramella Sabrina Pichler Manuel Mayhaus Wei Gu Alberto Lleó Juan Fortea Rafael Blesa Imelda S Barber Keeley Brookes Chiara Cupidi Raffaele Giovanni Maletta David Carrell Sandro Sorbi Susanne Moebus Maria Urbano Alberto Pilotto Johannes Kornhuber Paolo Bosco Stephen Todd David Craig Janet Johnston Michael Gill Brian Lawlor Aoibhinn Lynch Nick C Fox John Hardy Roger L Albin Liana G Apostolova Steven E Arnold Sanjay Asthana Craig S Atwood Clinton T Baldwin Lisa L Barnes Sandra Barral Thomas G Beach James T Becker Eileen H Bigio Thomas D Bird Bradley F Boeve James D Bowen Adam Boxer James R Burke Jeffrey M Burns Joseph D Buxbaum Nigel J Cairns Chuanhai Cao Chris S Carlson Cynthia M Carlsson Regina M Carney Minerva M Carrasquillo Steven L Carroll Carolina Ceballos Diaz Helena C Chui David G Clark David H Cribbs Elizabeth A Crocco Charles DeCarli Malcolm Dick Ranjan Duara Denis A Evans Kelley M Faber Kenneth B Fallon David W Fardo Martin R Farlow Steven Ferris Tatiana M Foroud Douglas R Galasko Marla Gearing Daniel H Geschwind John R Gilbert Neill R Graff-Radford Robert C Green John H Growdon Ronald L Hamilton Lindy E Harrell Lawrence S Honig Matthew J Huentelman Christine M Hulette Bradley T Hyman Gail P Jarvik Erin Abner Lee-Way Jin Gyungah Jun Anna Karydas Jeffrey A Kaye Ronald Kim Neil W Kowall Joel H Kramer Frank M LaFerla James J Lah James B Leverenz Allan I Levey Ge Li Andrew P Lieberman Kathryn L Lunetta Constantine G Lyketsos Daniel C Marson Frank Martiniuk Deborah C Mash Eliezer Masliah Wayne C McCormick Susan M McCurry Andrew N McDavid Ann C McKee Marsel Mesulam Bruce L Miller Carol A Miller Joshua W Miller John C Morris Jill R Murrell Amanda J Myers Sid O'Bryant John M Olichney Vernon S Pankratz Joseph E Parisi Henry L Paulson William Perry Elaine Peskind Aimee Pierce Wayne W Poon Huntington Potter Joseph F Quinn Ashok Raj Murray Raskind Barry Reisberg Christiane Reitz John M Ringman Erik D Roberson Ekaterina Rogaeva Howard J Rosen Roger N Rosenberg Mark A Sager Andrew J Saykin Julie A Schneider Lon S Schneider William W Seeley Amanda G Smith Joshua A Sonnen Salvatore Spina Robert A Stern Russell H Swerdlow Rudolph E Tanzi Tricia A Thornton-Wells John Q Trojanowski Juan C Troncoso Vivianna M Van Deerlin Linda J Van Eldik Harry V Vinters Jean Paul Vonsattel Sandra Weintraub Kathleen A Welsh-Bohmer Kirk C Wilhelmsen Jennifer Williamson Thomas S Wingo Randall L Woltjer Clinton B Wright Chang-En Yu Lei Yu Fabienne Garzia Feroze Golamaully Gislain Septier Sebastien Engelborghs Rik Vandenberghe Peter P De Deyn Carmen Muñoz Fernadez Yoland Aladro Benito Hakan Thonberg Charlotte Forsell Lena Lilius Anne Kinhult-Stählbom Lena Kilander RoseMarie Brundin Letizia Concari Seppo Helisalmi Anne Maria Koivisto Annakaisa Haapasalo Vincent Dermecourt Nathalie Fievet Olivier Hanon Carole Dufouil Alexis Brice Karen Ritchie Bruno Dubois Jayanadra J Himali C Dirk Keene JoAnn Tschanz Annette L Fitzpatrick Walter A Kukull Maria Norton Thor Aspelund Eric B Larson Ron Munger Jerome I Rotter Richard B Lipton María J Bullido Albert Hofman Thomas J Montine Eliecer Coto Eric Boerwinkle Ronald C Petersen Victoria Alvarez Fernando Rivadeneira Eric M Reiman Maura Gallo Christopher J O'Donnell Joan S Reisch Amalia Cecilia Bruni Donald R Royall Martin Dichgans Mary Sano Daniela Galimberti Peter St George-Hyslop Elio Scarpini Debby W Tsuang Michelangelo Mancuso Ubaldo Bonuccelli Ashley R Winslow Antonio Daniele Chuang-Kuo Wu Oliver Peters Benedetta Nacmias Matthias Riemenschneider Reinhard Heun Carol Brayne David C Rubinsztein Jose Bras Rita Guerreiro Ammar Al-Chalabi Christopher E Shaw John Collinge David Mann Magda Tsolaki Jordi Clarimón Rebecca Sussams Simon Lovestone Michael C O'Donovan Michael J Owen Timothy W Behrens Simon Mead Alison M Goate Andre G Uitterlinden Clive Holmes Carlos Cruchaga Martin Ingelsson David A Bennett John Powell Todd E Golde Caroline Graff Philip L De Jager Kevin Morgan Nilufer Ertekin-Taner Onofre Combarros Bruce M Psaty Peter Passmore Steven G Younkin Claudine Berr Vilmundur Gudnason Dan Rujescu Dennis W Dickson Jean-François Dartigues Anita L DeStefano Sara Ortega-Cubero Hakon Hakonarson Dominique Campion Merce Boada John Keoni Kauwe Lindsay A Farrer Christine Van Broeckhoven M Arfan Ikram Lesley Jones Jonathan L Haines Christophe Tzourio Lenore J Launer Valentina Escott-Price Richard Mayeux Jean-François Deleuze Najaf Amin Peter A Holmans Margaret A Pericak-Vance Philippe Amouyel Cornelia M van Duijn Alfredo Ramirez Li-San Wang Jean-Charles Lambert Sudha Seshadri Julie Williams Gerard D Schellenberg

Nat Genet 2017 09 17;49(9):1373-1384. Epub 2017 Jul 17.

Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669039PMC
September 2017

Deletion of exons 9 and 10 of the Presenilin 1 gene in a patient with Early-onset Alzheimer Disease generates longer amyloid seeds.

Neurobiol Dis 2017 Aug 28;104:97-103. Epub 2017 Apr 28.

Normandie Univ, UNIROUEN, Inserm U1245, Rouen University Hospital, Department of Genetics and CNR-MAJ, Normandy Center for Genomic and Personalized Medicine, F 76000 Rouen, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2017.04.020DOI Listing
August 2017

[Genetics of schizophrenia: is the complement component 4 a risk factor?].

Med Sci (Paris) 2016 Jun-Jul;32(6-7):556-7. Epub 2016 Jul 12.

Centre hospitalier du Rouvray, 4, rue Paul Eluard, 76301 Sotteville-lès-Rouen, France - Inserm U1079, Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques, 76183 Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/20163206009DOI Listing
July 2017

From Common to Rare Variants: The Genetic Component of Alzheimer Disease.

Hum Hered 2016 22;81(3):129-141. Epub 2016 Dec 22.

CNR-MAJ, Rouen University Hospital, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000452256DOI Listing
May 2017

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.

Authors:
Christian R Marshall Daniel P Howrigan Daniele Merico Bhooma Thiruvahindrapuram Wenting Wu Douglas S Greer Danny Antaki Aniket Shetty Peter A Holmans Dalila Pinto Madhusudan Gujral William M Brandler Dheeraj Malhotra Zhouzhi Wang Karin V Fuentes Fajarado Michelle S Maile Stephan Ripke Ingrid Agartz Margot Albus Madeline Alexander Farooq Amin Joshua Atkins Silviu A Bacanu Richard A Belliveau Sarah E Bergen Marcelo Bertalan Elizabeth Bevilacqua Tim B Bigdeli Donald W Black Richard Bruggeman Nancy G Buccola Randy L Buckner Brendan Bulik-Sullivan William Byerley Wiepke Cahn Guiqing Cai Murray J Cairns Dominique Campion Rita M Cantor Vaughan J Carr Noa Carrera Stanley V Catts Kimberley D Chambert Wei Cheng C Robert Cloninger David Cohen Paul Cormican Nick Craddock Benedicto Crespo-Facorro James J Crowley David Curtis Michael Davidson Kenneth L Davis Franziska Degenhardt Jurgen Del Favero Lynn E DeLisi Dimitris Dikeos Timothy Dinan Srdjan Djurovic Gary Donohoe Elodie Drapeau Jubao Duan Frank Dudbridge Peter Eichhammer Johan Eriksson Valentina Escott-Price Laurent Essioux Ayman H Fanous Kai-How Farh Martilias S Farrell Josef Frank Lude Franke Robert Freedman Nelson B Freimer Joseph I Friedman Andreas J Forstner Menachem Fromer Giulio Genovese Lyudmila Georgieva Elliot S Gershon Ina Giegling Paola Giusti-Rodríguez Stephanie Godard Jacqueline I Goldstein Jacob Gratten Lieuwe de Haan Marian L Hamshere Mark Hansen Thomas Hansen Vahram Haroutunian Annette M Hartmann Frans A Henskens Stefan Herms Joel N Hirschhorn Per Hoffmann Andrea Hofman Hailiang Huang Masashi Ikeda Inge Joa Anna K Kähler René S Kahn Luba Kalaydjieva Juha Karjalainen David Kavanagh Matthew C Keller Brian J Kelly James L Kennedy Yunjung Kim James A Knowles Bettina Konte Claudine Laurent Phil Lee S Hong Lee Sophie E Legge Bernard Lerer Deborah L Levy Kung-Yee Liang Jeffrey Lieberman Jouko Lönnqvist Carmel M Loughland Patrik K E Magnusson Brion S Maher Wolfgang Maier Jacques Mallet Manuel Mattheisen Morten Mattingsdal Robert W McCarley Colm McDonald Andrew M McIntosh Sandra Meier Carin J Meijer Ingrid Melle Raquelle I Mesholam-Gately Andres Metspalu Patricia T Michie Lili Milani Vihra Milanova Younes Mokrab Derek W Morris Bertram Müller-Myhsok Kieran C Murphy Robin M Murray Inez Myin-Germeys Igor Nenadic Deborah A Nertney Gerald Nestadt Kristin K Nicodemus Laura Nisenbaum Annelie Nordin Eadbhard O'Callaghan Colm O'Dushlaine Sang-Yun Oh Ann Olincy Line Olsen F Anthony O'Neill Jim Van Os Christos Pantelis George N Papadimitriou Elena Parkhomenko Michele T Pato Tiina Paunio Diana O Perkins Tune H Pers Olli Pietiläinen Jonathan Pimm Andrew J Pocklington John Powell Alkes Price Ann E Pulver Shaun M Purcell Digby Quested Henrik B Rasmussen Abraham Reichenberg Mark A Reimers Alexander L Richards Joshua L Roffman Panos Roussos Douglas M Ruderfer Veikko Salomaa Alan R Sanders Adam Savitz Ulrich Schall Thomas G Schulze Sibylle G Schwab Edward M Scolnick Rodney J Scott Larry J Seidman Jianxin Shi Jeremy M Silverman Jordan W Smoller Erik Söderman Chris C A Spencer Eli A Stahl Eric Strengman Jana Strohmaier T Scott Stroup Jaana Suvisaari Dragan M Svrakic Jin P Szatkiewicz Srinivas Thirumalai Paul A Tooney Juha Veijola Peter M Visscher John Waddington Dermot Walsh Bradley T Webb Mark Weiser Dieter B Wildenauer Nigel M Williams Stephanie Williams Stephanie H Witt Aaron R Wolen Brandon K Wormley Naomi R Wray Jing Qin Wu Clement C Zai Rolf Adolfsson Ole A Andreassen Douglas H R Blackwood Elvira Bramon Joseph D Buxbaum Sven Cichon David A Collier Aiden Corvin Mark J Daly Ariel Darvasi Enrico Domenici Tõnu Esko Pablo V Gejman Michael Gill Hugh Gurling Christina M Hultman Nakao Iwata Assen V Jablensky Erik G Jönsson Kenneth S Kendler George Kirov Jo Knight Douglas F Levinson Qingqin S Li Steven A McCarroll Andrew McQuillin Jennifer L Moran Bryan J Mowry Markus M Nöthen Roel A Ophoff Michael J Owen Aarno Palotie Carlos N Pato Tracey L Petryshen Danielle Posthuma Marcella Rietschel Brien P Riley Dan Rujescu Pamela Sklar David St Clair James T R Walters Thomas Werge Patrick F Sullivan Michael C O'Donovan Stephen W Scherer Benjamin M Neale Jonathan Sebat

Nat Genet 2017 01 21;49(1):27-35. Epub 2016 Nov 21.

Beyster Center for Psychiatric Genomics, University of California, San Diego, La Jolla, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3725DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5737772PMC
January 2017

XPR1 mutations are a rare cause of primary familial brain calcification.

J Neurol 2016 Aug 26;263(8):1559-64. Epub 2016 May 26.

Faculté de Médecine, Inserm U1079, University of Rouen, IRIB, Normandy University, 22 Boulevard Gambetta, 76183, Rouen, France.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00415-016-8166-4
Publisher Site
http://dx.doi.org/10.1007/s00415-016-8166-4DOI Listing
August 2016

Seizures in dominantly inherited Alzheimer disease.

Neurology 2016 Aug 27;87(9):912-9. Epub 2016 Jul 27.

From the Departments of Neurology (A.Z., A.B., O.M., D.H., D.W.) and Genetics (G.N., D.H.), and CNR-MAJ (A.Z., G.N., S.R., O.M., D.C., D.H.), Rouen University Hospital; Inserm U1079 (C.C., A.R.-L., G.N., S.R., D.C., D.H., D.W.), Normandy Centre for Genomic Medicine and Personalized Medicine, Rouen University, IRIB, Normandy University, Rouen; Department of Neurology (J.P.), CMRR and INSERM U825, Purpan University Hospital, Toulouse; CNR-MAJ (I.L.B.), Pitié-Salpêtrière Paris and CRCICM, IM2A, UMR-S975 AP-HP, University Hospital Pitié-Salpêtrière, Paris; Université Lille (F.P., A.R.-S.), Inserm U1171, Memory Centre and CNR-MAJ, CHU, Lille; Department of Neuropsychology (M.F., B.C.), CMRR, University Hospital, Groupe Hospitalier Est, Bron; Department of Neurology (M.S.), AP-HP, University Hospital Saint-Anne, Paris; Department of Neurology (C.B.-B.), CMRR, Nantes University Hospital; Department of Neurology and Neuropsychology (M.C.), Aix-Marseille University, CMRR, Timone Hospital and INSERM UMR1106, Marseille; CMRR Montpellier (A.G.), Department of Neurology, University Hospital of Montpellier and INSERM U1163, Montpellier; Department of Neurology (L.C.), CMRR, Besançon University Hospital; CMRR (F.B.), Department of Geriatrics, University Hospital of Strasbourg and ICube Laboratory, CNRS, University of Strasbourg; and CMRR Paris Nord AP-HP (C.P.), Hopital Lariboisière, INSERM, U942, Université Paris Diderot, Sorbonne Paris Cité, UMRS 942, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003048DOI Listing
August 2016

ABCA7 rare variants and Alzheimer disease risk.

Neurology 2016 Jun 1;86(23):2134-7. Epub 2016 Apr 1.

From INSERM (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.C.R., A.R.-L., T.F., D.H., D.C.), U1079, IRIB, University of Rouen, Normandy University; Normandy Centre for Genomic Medicine and Personalized Medicine (K.L.G., G.N., O.Q., C.C., D.W., S.R., A.-C.R., A.R.-L., T.F., D.H., D.C.), Rouen; Department of Genetics (G.N., T.F., D.H.), CNR-MAJ (G.N., O.Q., C.C., D.W., S.R., A.-C.R., F.P., A.R.-S., D.H., D.C.), and Department of Neurology (D.W., D.H.), Rouen University Hospital; INSERM (C.B., B.G.-B., P.A., J.-C.L.), U1167, Lille; Institut Pasteur de Lille (C.B., B.G.-B., P.A., J.-C.L.); Université Lille-Nord de France (C.B., B.G.-B., P.A., J.-C.L.); Centre National de Génotypage (D.B., J.-G.G., R.O., A.B., V.M., J.-F.Deleuze.), Institut de Génomique, CEA, Evry; Fondation Jean Dausset (J.-F.Deleuze.), Centre d'Etudes du Polymorphisme Humain, Paris, France; McGill University and Génome Québec Innovation Centre (H.M.M., G.B., M.L.), Montréal, Canada; INSERM (R.R.), UMR 1087, l'Institut du Thorax, CHU Nantes; CNRS (R.R.), UMR 6291, Université de Nantes; INSERM (L.L., J.-F.Dartigues.), U897, Bordeaux; University of Bordeaux (L.L., J.-F.Dartigues.); Department of Neurology (F.P., A.R.S.), Lille University Hospital; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, Brest; and Department of Research (D.C.), Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898320PMC
June 2016

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.

Am J Hum Genet 2016 Jun 23;98(6):1208-1219. Epub 2016 May 23.

Department of Immunology, Genetics, and Pathology, Uppsala University, 75108 Uppsala, Sweden; Science for Life Laboratory, Uppsala University, 75123 Uppsala, Sweden. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.05.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908225PMC
June 2016

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Am J Med Genet B Neuropsychiatr Genet 2016 04 14;171B(3):377-82. Epub 2016 Jan 14.

Inserm U1079, Institute for Research and Innovation in Biomedicine, University of Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32416DOI Listing
April 2016

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

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094661PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015

A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding.

J Alzheimers Dis 2014 ;42(2):413-20

Inserm, imagerie cérébrale et handicaps neurologiques, UMR 825; F-31059, Toulouse, France Université de Toulouse, UPS, imagerie cérébrale et handicaps neurologiques, UMR 825; CHU Purpan, Place du Dr Baylac, F-31059, Toulouse, Cedex 9, France Service de neurologie, pôle neurosciences, Centre Hospitalier Universitaire de Toulouse, CHU Purpan, Place du Dr Baylac, Toulouse, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-140222DOI Listing
July 2015

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Hum Mutat 2015 May 6;36(5):489-95. Epub 2015 Apr 6.

Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22778DOI Listing
May 2015

PLD3 and sporadic Alzheimer's disease risk.

Nature 2015 Apr;520(7545):E1

INSERM, U744, Université Lille 2, Institut Pasteur de Lille, Lille 59000, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature14036DOI Listing
April 2015

A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles.

Alzheimers Res Ther 2014 26;6(3):38. Epub 2014 Jun 26.

CHU de Montpellier and Université Montpellier I, IRMB, CCBHM, Laboratoire de Biochimie Protéomique Clinique, 80 Avenue Augustin Fliche, 34295 Montpellier, France ; Centre Mémoire Ressources Recherche Languedoc-Roussillon, CHU de Montpellier, Hôpital Gui de Chauliac, Montpellier, and Université Montpellier I, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/alzrt267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4255520PMC
December 2014

Dementia in middle-aged patients with schizophrenia.

J Alzheimers Dis 2014 ;39(4):809-22

Deparment of Research, Rouvray Psychiatric Hospital, Sotteville-lès-Rouen, France Inserm, U1079, Rouen, France; University of Rouen, Normandie Univ, Institute for Research and Innovation in Biomedicine, Rouen, France CNR MAJ, Rouen, Lille and Paris Salpêtrière Hospitals, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-131688DOI Listing
October 2014

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Eur J Hum Genet 2014 Oct 12;22(10):1236-8. Epub 2014 Feb 12.

1] Inserm U1079, Rouen, France [2] IRIB, Normandie University, Rouen, France [3] Department of Genetics, Rouen University Hospital, Rouen, France [4] CNR-MAJ, Lille, Paris-Salpêtrière and Rouen University Hospitals, Paris, France [5] Department of Neurology, Rouen University Hospital, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169546PMC
October 2014

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

Neurogenetics 2014 May 28;15(2):95-100. Epub 2014 Jan 28.

Département de Génétique, Cytogénétique et Embryologie, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Assistance Publique-Hôpitaux de Paris, Paris, France,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-014-0389-xDOI Listing
May 2014

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

JAMA Neurol 2013 Nov;70(11):1403-10

INSERM, UMR_S975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital de la Salpêtrière, F-75013, Paris, France2Université Pierre Marie Curie-Paris 06, UMR_S975, F-75013, Paris, France3Centre national de la recherche scientifique, UMR 7225, F-75013, Paris, France4AP-HP, Hôpital de la Pitié-Salpêtrière, Centre de Référence des Démences Rares, Paris, France5AP-HP, Hôpital de la Pitié-Salpêtrière, Département des maladies du système nerveux, Paris, France.

View Article

Download full-text PDF

Source
http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2013.3849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199096PMC
November 2013

A diagnosis of idiopathic basal ganglia calcification in an 82-year-old man.

J Am Geriatr Soc 2013 Nov;61(11):2057-9

Inserm U1079, Rouen, France; Institute for Research and Innovation in Biomedicine, Normandie University, Rouen, France; Department of Neurology, Rouen University Hospital, Rouen, France; Centre National de Référence pour les Malades Alzheimer Jeunes, Lille, Rouen, France; Paris-Salpêtrière Hospitals, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jgs.12527DOI Listing
November 2013

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Authors:
Stephan Ripke Colm O'Dushlaine Kimberly Chambert Jennifer L Moran Anna K Kähler Susanne Akterin Sarah E Bergen Ann L Collins James J Crowley Menachem Fromer Yunjung Kim Sang Hong Lee Patrik K E Magnusson Nick Sanchez Eli A Stahl Stephanie Williams Naomi R Wray Kai Xia Francesco Bettella Anders D Borglum Brendan K Bulik-Sullivan Paul Cormican Nick Craddock Christiaan de Leeuw Naser Durmishi Michael Gill Vera Golimbet Marian L Hamshere Peter Holmans David M Hougaard Kenneth S Kendler Kuang Lin Derek W Morris Ole Mors Preben B Mortensen Benjamin M Neale Francis A O'Neill Michael J Owen Milica Pejovic Milovancevic Danielle Posthuma John Powell Alexander L Richards Brien P Riley Douglas Ruderfer Dan Rujescu Engilbert Sigurdsson Teimuraz Silagadze August B Smit Hreinn Stefansson Stacy Steinberg Jaana Suvisaari Sarah Tosato Matthijs Verhage James T Walters Douglas F Levinson Pablo V Gejman Kenneth S Kendler Claudine Laurent Bryan J Mowry Michael C O'Donovan Michael J Owen Ann E Pulver Brien P Riley Sibylle G Schwab Dieter B Wildenauer Frank Dudbridge Peter Holmans Jianxin Shi Margot Albus Madeline Alexander Dominique Campion David Cohen Dimitris Dikeos Jubao Duan Peter Eichhammer Stephanie Godard Mark Hansen F Bernard Lerer Kung-Yee Liang Wolfgang Maier Jacques Mallet Deborah A Nertney Gerald Nestadt Nadine Norton Francis A O'Neill George N Papadimitriou Robert Ribble Alan R Sanders Jeremy M Silverman Dermot Walsh Nigel M Williams Brandon Wormley Maria J Arranz Steven Bakker Stephan Bender Elvira Bramon David Collier Benedicto Crespo-Facorro Jeremy Hall Conrad Iyegbe Assen Jablensky Rene S Kahn Luba Kalaydjieva Stephen Lawrie Cathryn M Lewis Kuang Lin Don H Linszen Ignacio Mata Andrew McIntosh Robin M Murray Roel A Ophoff John Powell Dan Rujescu Jim Van Os Muriel Walshe Matthias Weisbrod Durk Wiersma Peter Donnelly Ines Barroso Jenefer M Blackwell Elvira Bramon Matthew A Brown Juan P Casas Aiden P Corvin Panos Deloukas Audrey Duncanson Janusz Jankowski Hugh S Markus Christopher G Mathew Colin N A Palmer Robert Plomin Anna Rautanen Stephen J Sawcer Richard C Trembath Ananth C Viswanathan Nicholas W Wood Chris C A Spencer Gavin Band Céline Bellenguez Colin Freeman Garrett Hellenthal Eleni Giannoulatou Matti Pirinen Richard D Pearson Amy Strange Zhan Su Damjan Vukcevic Peter Donnelly Cordelia Langford Sarah E Hunt Sarah Edkins Rhian Gwilliam Hannah Blackburn Suzannah J Bumpstead Serge Dronov Matthew Gillman Emma Gray Naomi Hammond Alagurevathi Jayakumar Owen T McCann Jennifer Liddle Simon C Potter Radhi Ravindrarajah Michelle Ricketts Avazeh Tashakkori-Ghanbaria Matthew J Waller Paul Weston Sara Widaa Pamela Whittaker Ines Barroso Panos Deloukas Christopher G Mathew Jenefer M Blackwell Matthew A Brown Aiden P Corvin Mark I McCarthy Chris C A Spencer Elvira Bramon Aiden P Corvin Michael C O'Donovan Kari Stefansson Edward Scolnick Shaun Purcell Steven A McCarroll Pamela Sklar Christina M Hultman Patrick F Sullivan

Nat Genet 2013 Oct 25;45(10):1150-9. Epub 2013 Aug 25.

1] Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA. [2] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827979PMC
October 2013

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.

BMC Bioinformatics 2012 7;13 Suppl 14:S9. Epub 2012 Sep 7.

University of Rouen, INSERM U1079 Molecular genetics of cancer and neuropsychiatric diseases, 76183 Rouen cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2105-13-S14-S9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439720PMC
May 2013

Copy number variations involving the microtubule-associated protein tau in human diseases.

Biochem Soc Trans 2012 Aug;40(4):672-6

Inserm, U1079, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1042/BST20120045DOI Listing
August 2012

Amyloid-β protein precursor gene expression in alzheimer's disease and other conditions.

J Alzheimers Dis 2012 ;28(3):561-6

Inserm U614, Faculty of Medicine, Institute for Biomedical Research and Innovation, University of Rouen, 76000, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-2011-111148DOI Listing
June 2012

Accumulation of insoluble forms of FUS protein correlates with toxicity in Drosophila.

Neurobiol Aging 2012 May 25;33(5):1008.e1-15. Epub 2011 Nov 25.

UMR Inserm U614, IFRMP23, Rouen Institute for Medical Research and Innovation, Faculty of Medicine, University of Rouen, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2011.10.008DOI Listing
May 2012

Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study.

Schizophr Res 2012 May 7;137(1-3):151-8. Epub 2012 Mar 7.

Department of Child and Adolescent Psychiatry, Institut des Systèmes Intelligents et Robotiques, Université Pierre et Marie Curie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.schres.2012.02.012DOI Listing
May 2012

No replication of genetic association between candidate polymorphisms and Alzheimer's disease.

Neurobiol Aging 2011 Aug 3;32(8):1443-51. Epub 2009 Nov 3.

Biological Sciences Department, sanofi-aventis Recherche et Développement, Centre de Génétique humaine, 91057 Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2009.09.004DOI Listing
August 2011

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

J Alzheimers Dis 2010 ;22(1):247-55

Unité INSERM 744, Institut Pasteur de Lille BP 245,1, rue du professeur Calmette, F59019Lille cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-2010-100933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964875PMC
August 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

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

Authors:
Paul Hollingworth Denise Harold Rebecca Sims Amy Gerrish Jean-Charles Lambert Minerva M Carrasquillo Richard Abraham Marian L Hamshere Jaspreet Singh Pahwa Valentina Moskvina Kimberley Dowzell Nicola Jones Alexandra Stretton Charlene Thomas Alex Richards Dobril Ivanov Caroline Widdowson Jade Chapman Simon Lovestone John Powell Petroula Proitsi Michelle K Lupton Carol Brayne David C Rubinsztein Michael Gill Brian Lawlor Aoibhinn Lynch Kristelle S Brown Peter A Passmore David Craig Bernadette McGuinness Stephen Todd Clive Holmes David Mann A David Smith Helen Beaumont Donald Warden Gordon Wilcock Seth Love Patrick G Kehoe Nigel M Hooper Emma R L C Vardy John Hardy Simon Mead Nick C Fox Martin Rossor John Collinge Wolfgang Maier Frank Jessen Eckart Rüther Britta Schürmann Reiner Heun Heike Kölsch Hendrik van den Bussche Isabella Heuser Johannes Kornhuber Jens Wiltfang Martin Dichgans Lutz Frölich Harald Hampel John Gallacher Michael Hüll Dan Rujescu Ina Giegling Alison M Goate John S K Kauwe Carlos Cruchaga Petra Nowotny John C Morris Kevin Mayo Kristel Sleegers Karolien Bettens Sebastiaan Engelborghs Peter P De Deyn Christine Van Broeckhoven Gill Livingston Nicholas J Bass Hugh Gurling Andrew McQuillin Rhian Gwilliam Panagiotis Deloukas Ammar Al-Chalabi Christopher E Shaw Magda Tsolaki Andrew B Singleton Rita Guerreiro Thomas W Mühleisen Markus M Nöthen Susanne Moebus Karl-Heinz Jöckel Norman Klopp H-Erich Wichmann V Shane Pankratz Sigrid B Sando Jan O Aasly Maria Barcikowska Zbigniew K Wszolek Dennis W Dickson Neill R Graff-Radford Ronald C Petersen Cornelia M van Duijn Monique M B Breteler M Arfan Ikram Anita L DeStefano Annette L Fitzpatrick Oscar Lopez Lenore J Launer Sudha Seshadri Claudine Berr Dominique Campion Jacques Epelbaum Jean-François Dartigues Christophe Tzourio Annick Alpérovitch Mark Lathrop Thomas M Feulner Patricia Friedrich Caterina Riehle Michael Krawczak Stefan Schreiber Manuel Mayhaus S Nicolhaus Stefan Wagenpfeil Stacy Steinberg Hreinn Stefansson Kari Stefansson Jon Snaedal Sigurbjörn Björnsson Palmi V Jonsson Vincent Chouraki Benjamin Genier-Boley Mikko Hiltunen Hilkka Soininen Onofre Combarros Diana Zelenika Marc Delepine Maria J Bullido Florence Pasquier Ignacio Mateo Ana Frank-Garcia Elisa Porcellini Olivier Hanon Eliecer Coto Victoria Alvarez Paolo Bosco Gabriele Siciliano Michelangelo Mancuso Francesco Panza Vincenzo Solfrizzi Benedetta Nacmias Sandro Sorbi Paola Bossù Paola Piccardi Beatrice Arosio Giorgio Annoni Davide Seripa Alberto Pilotto Elio Scarpini Daniela Galimberti Alexis Brice Didier Hannequin Federico Licastro Lesley Jones Peter A Holmans Thorlakur Jonsson Matthias Riemenschneider Kevin Morgan Steven G Younkin Michael J Owen Michael O'Donovan Philippe Amouyel Julie Williams

Nat Genet 2011 May 3;43(5):429-35. Epub 2011 Apr 3.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084173PMC
May 2011

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies.

Neurobiol Dis 2011 Feb 14;41(2):398-406. Epub 2010 Oct 14.

InsermU614, IFRMP23, Rouen Institute for Medical Research and Innovation, Faculty of Medicine, University of Rouen, 22 Boulevard Gambetta, 76183 Rouen Cedex 01, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nbd.2010.10.007DOI Listing
February 2011

Frontotemporal dementia phenotype associated with MAPT gene duplication.

J Alzheimers Dis 2010 ;21(3):897-902

Inserm U614, Faculty Medicine, University of Rouen, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-2010-100441DOI Listing
January 2011

Morbid risk for schizophrenia in first-degree relatives of people with frontotemporal dementia.

Br J Psychiatry 2010 Jul;197(1):28-35

INSERM U614, University of Medicine, Rouen, and Department of Research, Rouvray Psychiatric Hospital, Sotteville-les-Rouen, France.

View Article

Download full-text PDF

Source
https://www.cambridge.org/core/product/identifier/S000712500
Publisher Site
http://dx.doi.org/10.1192/bjp.bp.109.068981DOI Listing
July 2010

Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein.

J Neurochem 2010 May 27;113(4):895-903. Epub 2010 Feb 27.

Inserm U614, Rouen Institute for Medical Research, Faculty of Medicine, University of Rouen, Rouen Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1471-4159.2010.06663.xDOI Listing
May 2010

A study of the association between the ADAM12 and SH3PXD2A (SH3MD1) genes and Alzheimer's disease.

Neurosci Lett 2010 Jan 22;468(1):1-2. Epub 2009 Oct 22.

INSERM, U744, Université de Lille 2, Institut Pasteur de Lille, BP 245, 1, rue du professeur Calmette, F-59019 Lille Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neulet.2009.10.040DOI Listing
January 2010

No pathogenic rearrangement within the DISC 1 gene in psychosis.

Am J Med Genet B Neuropsychiatr Genet 2009 Jan;150B(1):148-50

INSERM U, IFRMP, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.30753DOI Listing
January 2009

Association study of the NEDD9 gene with the risk of developing Alzheimer's and Parkinson's disease.

Hum Mol Genet 2008 Sep 25;17(18):2863-7. Epub 2008 Jun 25.

Inserm, U744, Institut Pasteur de Lille, Université de Lille 2, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn183DOI Listing
September 2008