Alexis Brice

Alexis Brice

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Alexis Brice

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Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

Neurobiol Aging 2020 Jul 21;91:167.e1-167.e9. Epub 2020 Feb 21.

Sorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), FrontLab, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2020.02.014DOI Listing
July 2020

Gene Panel Sequencing Identifies Novel Pathogenic Mutations in Moroccan Patients with Familial Parkinson Disease.

J Mol Neurosci 2020 Jun 16. Epub 2020 Jun 16.

Neurology and Neurogenetics, Faculty of Medicine and Pharmacy, Genomics Center of Human Pathologies, University Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1007/s12031-020-01635-3DOI Listing
June 2020

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Authors:
Katrina M Moore Jennifer Nicholas Murray Grossman Corey T McMillan David J Irwin Lauren Massimo Vivianna M Van Deerlin Jason D Warren Nick C Fox Martin N Rossor Simon Mead Martina Bocchetta Bradley F Boeve David S Knopman Neill R Graff-Radford Leah K Forsberg Rosa Rademakers Zbigniew K Wszolek John C van Swieten Lize C Jiskoot Lieke H Meeter Elise Gp Dopper Janne M Papma Julie S Snowden Jennifer Saxon Matthew Jones Stuart Pickering-Brown Isabelle Le Ber Agnès Camuzat Alexis Brice Paola Caroppo Roberta Ghidoni Michela Pievani Luisa Benussi Giuliano Binetti Bradford C Dickerson Diane Lucente Samantha Krivensky Caroline Graff Linn Öijerstedt Marie Fallström Håkan Thonberg Nupur Ghoshal John C Morris Barbara Borroni Alberto Benussi Alessandro Padovani Daniela Galimberti Elio Scarpini Giorgio G Fumagalli Ian R Mackenzie Ging-Yuek R Hsiung Pheth Sengdy Adam L Boxer Howie Rosen Joanne B Taylor Matthis Synofzik Carlo Wilke Patricia Sulzer John R Hodges Glenda Halliday John Kwok Raquel Sanchez-Valle Albert Lladó Sergi Borrego-Ecija Isabel Santana Maria Rosário Almeida Miguel Tábuas-Pereira Fermin Moreno Myriam Barandiaran Begoña Indakoetxea Johannes Levin Adrian Danek James B Rowe Thomas E Cope Markus Otto Sarah Anderl-Straub Alexandre de Mendonça Carolina Maruta Mario Masellis Sandra E Black Philippe Couratier Geraldine Lautrette Edward D Huey Sandro Sorbi Benedetta Nacmias Robert Laforce Marie-Pier L Tremblay Rik Vandenberghe Philip Van Damme Emily J Rogalski Sandra Weintraub Alexander Gerhard Chiadi U Onyike Simon Ducharme Sokratis G Papageorgiou Adeline Su Lyn Ng Amy Brodtmann Elizabeth Finger Rita Guerreiro Jose Bras Jonathan D Rohrer

Lancet Neurol 2020 02 3;19(2):145-156. Epub 2019 Dec 3.

Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30394-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007771PMC
February 2020

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.

Neurobiol Aging 2020 01 10;85:154.e9-154.e11. Epub 2019 Jun 10.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.06.002DOI Listing
January 2020

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

Tremor Other Hyperkinet Mov (N Y) 2019 22;9. Epub 2019 Nov 22.

INSERM, U 1127, CNRS UMR 7225, Faculté de Médecine de Sorbonne Université, UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l'Hôpital, 75013 Paris, FR.

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http://dx.doi.org/10.7916/tohm.v0.693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878848PMC
November 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 Sep;51(9):1423-1424

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

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http://dx.doi.org/10.1038/s41588-019-0495-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7265117PMC
September 2019

Genetic risk of Parkinson disease and progression:: An analysis of 13 longitudinal cohorts.

Neurol Genet 2019 Aug 9;5(4):e348. Epub 2019 Jul 9.

Laboratory of Neurogenetics (H.I., C.B., H.L.L., F.F., D.G.H., A.B.S., M.A.N.), National Institute on Aging, National Institutes of Health, Bethesda; Data Tecnica International (H.I., M.A.N.), Glen Echo, MD; Precision Neurology Program (G.L., C.R.S.), Harvard Medical School, Brigham and Women's Hospital; Neurogenomics Laboratory (G.L., C.R.S.), Harvard Medical School, Brigham and Women's Hospital; Ann Romney Center for Neurologic Diseases (G.L., C.R.S.), Brigham and Women's Hospital, Boston, MA; The Norwegian Centre for Movement Disorders (J.M.-G., G.A.), Stavanger University Hospital; Department of Chemistry (J.M.-G., G.A.), Bioscience and Environmental Engineering, University of Stavanger, Norway; Assistance-Publique Hôpitaux de Paris (J.-C.C.), ICM, INSERM UMRS 1127, CNRS 7225, ICM, Department of Neurology and CIC Neurosciences, Pitié-Salpêtrière Hospital, Paris, France; Department of Neurology (L.P., M.T.), Oslo University Hospital, Norway; Department of Neurology (M.N., B.R.B., B.P.W.), Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands; Michael J Fox Foundation (S.J.H.), New York; Translational Genome Sciences (K.-D.H.N, K.E.), Biogen, Cambridge, MA; Department of Neurology University of Pennsylvania (J.R.), Philadelphia, PA; Department of Biostatistics and Computational Biology (S.E.), University of Rochester, NY; Department of Computer Science (F.F.), University of Illinois Urbana-Champaign; Department of Neurology (P.A.), Center for Health + Technology, University of Rochester, NY; Department of Clinical Neurosciences (K.M.S., R.W.), University of Cambridge, John van Geest Centre for Brain Repair, UK; Department of Pathology and Laboratory Medicine (V.M.V.D.), Center for Neurodegenerative Disease Research, Parelman School of Medicine at the University of Pennsylvania, Philadelphia; Genetics and Pharmacogenomics (A.G.D.-W.), Merck Research Laboratory, Boston, MA; Statistical Genetics (A.G.D.-W.), Biogen, Cambridge, MA; Institut du cerveau et de la moelle épinière ICM (A.B., F.D.); Sorbonne Université SU (A.B.); INSERM UMR (A.B.), Paris, France; Department of Neurology (G.A.), Stavanger University Hospital, Norway; Preventive Neurology Unit (A.J.N.), Wolfson Institute of Preventive Medicine, Queen Mary University of London; Department of Molecular Neuroscience (A.J.N.), UCL Institute of Neurology, London, UK; Department of Neurology (O.-B.T.), Haukeland University Hospital; University of Bergen (O.-B.T.), Bergen, Norway; Department of Neurology (J.R.E.), Nottingham University NHS Trust, UK; Centre for Clinical Brain Sciences (D.P.B.), University of Edinburgh; Anne Rowling Regenerative Neurology Clinic (D.P.B.), University of Edinburgh; Usher Institute of Population Health Sciences and Informatics (D.P.B.), University of Edinburgh, Scotland; Department of Medical and Molecular Genetics (C.E.W.), Indiana University, Indianapolis; Department of Neurology (D.K.S.), Beth Israel Deaconess Medical Center; Harvard Medical School (D.K.S.), Boston; Voyager Therapeutics (B.R.), Cambridge, MA; Department of Neurology (B.R.), University of Rochester School of Medicine, NY; Institute of Clinical Medicine (M.T.), University of Oslo, Norway; German Center for Neurodegenerative Diseases-Tubingen (P.H.); HIH Tuebingen (P.H.), Germany; Department of Psychiatry (D.W.), University of Pennsylvania School of Medicine; Department of Veterans Affairs (D.W.), Philadelphia, PA; and Department of Clinical Neurosciences (R.A.B., C.H.W.-G.), University of Cambridge, UK; Department of Neurology (J.J.V.H.), Leiden University Medical Center, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659137PMC
August 2019

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Neurology 2019 06 8;92(23):e2679-e2690. Epub 2019 May 8.

From Sorbonne Université (G.C., C.E., B.F., M.-L.M., F.M., M.P., C.-S.D., G.S., A.D.), Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière; Department of Genetics (G.C., C.E., M.-L.M., P.C., F.M., G.B., G.S., A.D.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, Paris, France; Center for Neurology and Hertie Institute for Clinical Brain Research (R.S., M.S., L.S.), University of Tübingen, German Center for Neurodegenerative Diseases; German Center for Neurodegenerative Diseases (R.S., M.S., L.S.), Tübingen; Department of Neurology (B.P.C.v.d.W., E.G.H.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neurogenetics Group (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), University of Antwerp; Laboratories of Neurogenetics and Neuromuscular Pathology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Institute Born-Bunge, University of Antwerp; Department of Neurology (P.D.J., J.B., T.D., P.M., J.D.B., M.D.), Antwerp University Hospital, Belgium; Scientific Institute IRCCS "E. Medea" (A.M.), Conegliano, Italy; Department of Neurology (M.A.), Hôpital de Hautepierre, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (M.A.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (M.A.), Université de Strasbourg; Department of Neurology (B.F.), Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France; Department of Neurology (T. Klockgether, D.K.), University of Bonn; German Center for Neurodegenerative Diseases (T. Klockgether, D.K.), Bonn; Scientific Institute IRCCS E. Medea Neurorehabilitation Unit (M.G.D.), Bosisio Parini, Lecco, Italy; ULB Center of Human Genetics (I.M.), Brussels, Belgium; Scientific Institute IRCCS E. Medea Laboratory of Molecular Biology (M.T.B.), Bosisio Parini, Lecco, Italy; Department of Neurology With Friedrich-Baur Institute (T. Klopstock), University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (T. Klopstock); Munich Cluster for Systems Neurology (T. Klopstock), Germany; Department of Genetics (E.O.-R.), Croix-Rousse University Hospital, Lyon, France; Department of Neurology (C.K.), University of Rostock, Germany; Ecole Pratique des Hautes Etudes (M.P., G.S.), PSL Research University; Sorbonne Université (S.T.d.M.), INSERM, Institut Pierre Louis de Santé Publique, Medical Information Unit, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance publique-Hôpitaux de Paris; and Raymond Escourolle Neuropathology Department (D.S., C.D.), Pitié-Salpêtrière University Hospital, Assistance publique-Hôpitaux de Paris, Sorbonne Université, France.

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http://dx.doi.org/10.1212/WNL.0000000000007606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556095PMC
June 2019

Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view.

F1000Res 2018 12;7. Epub 2018 Nov 12.

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne University, Paris, 75013, France.

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https://f1000research.com/articles/7-1781/v1
Publisher Site
http://dx.doi.org/10.12688/f1000research.15788.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234732PMC
March 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.

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

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Neurobiol Aging 2019 02 19;74:234.e1-234.e8. Epub 2018 Sep 19.

Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière ICM, Hôpital Pitié-Salpêtrière, Paris, France; National Reference Center for Rare or Early Dementias, Institute of Memory and Alzheimer's Disease IM2A, Department of Neurology, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183033
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.010DOI Listing
February 2019

Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes.

Neuroimage Clin 2018 14;19:858-867. Epub 2018 Jun 14.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France; AP-HP, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France; University Pierre and Marie Curie, Neurometabolic Research Group, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2018.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005808PMC
January 2019

SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.

Dis Model Mech 2019 01 11;12(1). Epub 2019 Jan 11.

Sorbonne Universités, UPMC, Univ Paris 06 UMRS 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital, 75013 Paris, France

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http://dx.doi.org/10.1242/dmm.036145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361149PMC
January 2019

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Neurobiol Aging 2018 12 30;72:187.e11-187.e14. Epub 2018 Jun 30.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.037DOI Listing
December 2018

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Brain 2018 12;141(12):3331-3342

Institut du Cerveau et de la Moelle épinière (ICM), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France.

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awy285DOI Listing
December 2018

LRP10 in α-synucleinopathies.

Lancet Neurol 2018 12 13;17(12):1034. Epub 2018 Nov 13.

Inserm U1127, CNRS UMR 7225, UPMC Paris 06 University, UMR S1127, Sorbonne University, Brain and Spinal Cord Institute (ICM), Hôpital de la Salpêtrière, Paris, France; Department of Genetics, Pitié-Salpêtrière Hospital Group, GHPS, Public Hospitals of Paris, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30400-9DOI Listing
December 2018

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.

Front Neurol 2018 11;9:1021. Epub 2018 Dec 11.

Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada.

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https://www.frontiersin.org/article/10.3389/fneur.2018.01021
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http://dx.doi.org/10.3389/fneur.2018.01021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297377PMC
December 2018

LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathic.

Acta Neurol Scand 2018 Nov 10;138(5):425-431. Epub 2018 Jul 10.

Laboratory of Neurogenetics, Parkinson's Disease and Cerebrovascular Disease, University Hospital Habib Bourguiba, Sfax, Tunisia.

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http://dx.doi.org/10.1111/ane.12996DOI Listing
November 2018

Mutation analysis of Parkinson's disease genes in a Russian data set.

Neurobiol Aging 2018 11 9;71:267.e7-267.e10. Epub 2018 Jul 9.

Petersburg Nuclear Physics Institute named by B.P. Konstantinov of National Research Centre «Kurchatov Institute», Saint-Petersburg, Russia; First Pavlov State Medical University of St. Petersburg, St. Petersburg, Russia; Institute of Experimental Medicine, St. Petersburg, Russia. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.06.027DOI Listing
November 2018

Hereditary ataxias and paraparesias: clinical and genetic update.

Curr Opin Neurol 2018 08;31(4):462-471

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS UMR 7225, Sorbonne, Université, Paris.

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http://dx.doi.org/10.1097/WCO.0000000000000585DOI Listing
August 2018

Longitudinal analysis of impulse control disorders in Parkinson disease.

Neurology 2018 07 20;91(3):e189-e201. Epub 2018 Jun 20.

From the Assistance Publique Hôpitaux de Paris (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.); Sorbonne Université (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.); INSERM (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.), Institut du cerveau et de la Moelle, Centre d'Investigation Clinique Neurosciences, NS-PARK/FCRIN Network; CNRS (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.); Departments of Neurology and Genetics (J.-C.C., F.C.-D., L.L., C.B., D.G., S.K., G.M., H.Y., A.B., M.V.), Hôpital Pitié-Salpêtrière, Paris; CESP (F.A., A.E.), Faculte de médecine, Université Paris-Sud; Faculte de médecine (F.A., A.E.), UVSQ, Institut National de la Santé et de la Recherche Médicale, Université Paris-Saclay, Villejuif; University of Toulouse 3 (O.R., C.B.-C., F.O.-M), Centre Hospitalo-Universitaire de Toulouse and INSERM; Centre d'Investigation Clinique CIC1436 (O.R., C.B.-C., F.O.-M), NS-PARK/FCRIN Network, Départements de Neurosciences et de Pharmacologie Clinique, NeuroToul COEN Center, Toulouse; Department of Neurology (F.D., A.-R.M.), NS-PARK/FCRIN Network, Centre Hospitalo-Universitaire de Clermont-Ferrand; Department of Neurology (P.D.), NS-PARK/FCRIN Network, Centre Hospitalo-Universitaire de Nantes; Department of Neurology (F.B.), Hôpital Foch, Suresnes; Department of Neurology (J.-P.B.), Fondation Rothschild, Paris; Department of Neurology (F.P.), Centre Hospitalier de Versailles; Université Versailles Saint Quentin en Yvelines et Paris Saclay (F.P.), Versailles; Department of Neurology (V.M.), Centre Hospitalo-Universitaire Saint-Antoine, Paris, France; and Department of Health Care Management (P.-C.L.), College of Health Technology, National Taipei University of Nursing and Health Sciences, Taiwan.

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http://dx.doi.org/10.1212/WNL.0000000000005816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059034PMC
July 2018

Deregulation of autophagy in postmortem brains of Machado-Joseph disease patients.

Neuropathology 2018 Apr 8;38(2):113-124. Epub 2017 Dec 8.

INSERM U 1127, CNRS UMR 7225, Sorbonne University UPMC, Univ Paris 06 UMR_S 1127, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital, 75013 Paris, France.

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http://dx.doi.org/10.1111/neup.12433DOI Listing
April 2018

Reply: Updated frequency analysis of spinocerebellar ataxia in China.

Brain 2018 04;141(4):e23

Brain and Spine Institute (ICM), Sorbonne Université, Inserm U1127, CNRS UMR 7225, Pitié-Salpêtrière University Hospital, Paris, France.

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http://dx.doi.org/10.1093/brain/awy018DOI Listing
April 2018

homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Neurol Genet 2018 Apr 21;4(2):e223. Epub 2018 Mar 21.

Department of Psychiatry (C.G.B., S.R., F.M.S.d.V., S.A.K.) and Department of Clinical Genetics (C.G.B., M.Q., G.J.B., H.B.B., V.B.), Erasmus MC, Rotterdam, The Netherlands; Sackler School of Medicine (Z.A., A.F.-V.), Tel-Aviv University, Ramat-Aviv; Pediatric Neurology Unit (A.F.-V.), Dana Children's Hospital, Tel-Aviv Medical Center, Israel; Department of Molecular Pharmacology (I.E.K., A.M.D.), Groningen Research Institute of Pharmacy, University of Groningen, The Netherlands; Clalit Health Services (R.M.), Sharon-Shomron, Hadera District; Faculty of Health Science (R.M.), Ben-Gurion University of the Negev, Beer Sheva; Metabolic Disease Unit (H.M.), Meyer Children's Hospital, Rambam Health Care Campus and Technion Faculty of Medicine, Haifa; Nursing Research Unit (M.A.T.), Soroka University Medical Center and Faculty of Health Science, Ben Gurion University of the Negev, Be'er Sheva, Israel; Ecole Pratique des Hautes Etudes (G.S.), PSL Research University, Neurogenetics Laboratory; Institut du Cerveau et de la Moelle Epinière (G.S., A.B.), Sorbonne University, Pierre and Marie Curie University UMR_S1127, INSERM u1127, CNRS UMR5225, Paris, France; Center for Biomics (W.F.J.v.I.), Erasmus MC; Department of Epidemiology (M.W.V.) and Department of Radiology (M.W.V.), Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863690PMC
April 2018

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

JAMA Neurol 2018 02;75(2):236-245

Sorbonne Universités, Université Pierre et Marie Curie Paris 06, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut du Cerveau et la Moelle, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1001/jamaneurol.2017.4266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838615PMC
February 2018

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function.

Neurol Genet 2018 Feb 19;4(1):e209. Epub 2018 Jan 19.

Institute of Human Genetics (N.M.-F., E.J., S.H., S.S., J.M., M.K., M.R., L.T.-B., B.W.), Center for Molecular Medicine Cologne, Institute for Genetics and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany; Institute for Zoology, Developmental Biology (H.L., M.H.), Institute of Biochemistry (C.P.), University of Cologne, Germany; Institut du Cerveau et de la Moelle épinière (M.C., A.B., A.D., G.S.), INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMRS 1127, France; Ecole Pratique des Hautes Etudes (M.C., G.S.), PSL Research University, Paris, France; Laboratory of Molecular and Cellular Neuroscience (M.R.), The Rockefeller University, New York, NY; Laboratory of Neurogenetics (A.S.), National Institute on Aging, National Institutes of Health, Bethesda, MD; John P. Hussman Institute for Human Genomics (S.Z.), University of Miami, Miller School of Medicine, FL; and APHP (A.B., A.D., G.S.), Hôpital de la Pitié-Salpêtrière, Centre de réference de neurogénétique, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775069PMC
February 2018

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Neurol Genet 2017 Dec 13;3(6):e203. Epub 2017 Dec 13.

INSERM U1127 (M.B., A.C., P.C., C.F., D.R., A.B., I.L.B.), CNRS UMR 7225, UPMC Université Paris 06 UMR S1127, Sorbonne Université Institut du Cerveau et de la Moelle épinière, ICM; Ecole Pratique des Hautes Etudes-EPHE (A.C.), PSL Research University; Institute of Memory and Alzheimer's Disease (IM2A) (M.H., P.C., D.R., I.L.B.), Centre of Excellence of Neurodegenerative Disease (CoEN), ICM, APHP Department of Neurology, Hopital Pitié-Salpêtrière, University Paris 6; Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire (F.C., K.L.), Département de Génétique et Cytogénétique, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Carlo Besta Neurological Institute (P.C.), IRCCS Foundation, Milano, Italy; Assistance Publique-Hôpitaux de Paris (D.R., I.L.B.), Hôpital Pitié-Salpêtrière, Centre de référence Démences Rares, Paris, France; Université de Lille (F.P.), Inserm U1171, CHU Lille, Labex DistAlz, LiCEND, France; Department of Neurology (D.H.), University Hospital, Rouen, France; Département de Neurologie (J.P.), CHU Toulouse, Equipe TONIC, INSERM, Place du Dr Baylac, France; INSERM (E.G.), UMR1078, CHU Brest, Université Bretagne Occidentale, France; and Institut de Recherche pour le Développement (IRD) (A.S.), UMR216-MERIT, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5730818PMC
December 2017

Establishing the role of rare coding variants in known Parkinson's disease risk loci.

Neurobiol Aging 2017 11 2;59:220.e11-220.e18. Epub 2017 Aug 2.

Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.07.009DOI Listing
November 2017

Analysis of blood-based gene expression in idiopathic Parkinson disease.

Neurology 2017 Oct 15;89(16):1676-1683. Epub 2017 Sep 15.

From the School of Computer Science (R.S., D.A., H.S.), Tel Aviv University, Israel; Institute of Neurogenetics (C.K., E.-J.V., H.P., M.K.), University of Lübeck, Germany; Department of Psychiatry and Psychotherapy (E.-J.V., M.K.), University of Lübeck, Germany; Institute of Medical Genetics and Applied Genomics (M.B., S.P., O.R.), University of Tübingen, Germany; IMGM Laboratories GmbH (M.B.), Martinsried, Germany; Mediterranean Institute for Life Sciences (M.U.), Split, Croatia; Department of Neurology (Y.C.W., D.K.), Northwestern University Feinberg School of Medicine, Chicago, IL; Clinical Institute of Medical Genetics (A.M., B.P.), University Medical Center Ljubljana, Slovenia; Sorbonne Universités (J.C.-C., S.L., A.B.), UPMC Université Paris 6 UMR S 1127, Inserm U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422 (J.C.-C.), Paris, France; Machine Learning Technologies Group (O.L.), IBM Research-Haifa, Mount Carmel, Israel; Department of Neurology (G.D., G.K.), Kiel University, Germany; and Department of Biological Regulation (I.U.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000004516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644465PMC
October 2017

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.

Front Neurol 2017 31;8:567. Epub 2017 Oct 31.

Sorbonne Universités, UPMC Université Paris 6 UMR_S 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.3389/fneur.2017.00567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5674924PMC
October 2017

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.

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

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.

Lancet Neurol 2017 08 16;16(8):620-629. Epub 2017 Jun 16.

Neurogenomics Laboratory and Parkinson Personalized Medicine Program of Harvard Medical School and Brigham and Women's Hospital, Boston, MA, USA; Ann Romney Center for Neurologic Diseases, Brigham and Women's Hospital, Boston, MA, USA; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; Biomarkers Program, Harvard NeuroDiscovery Center, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(17)30122-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5761650PMC
August 2017

Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases.

JAMA Neurol 2017 07;74(7):780-792

Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany30Centre for Genetic Epidemiology, Institute for Clinical Epidemiology and Applied Biometry, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1001/jamaneurol.2017.0469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710535PMC
July 2017

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.

Neurobiol Dis 2017 Jun 22;102:21-37. Epub 2017 Feb 22.

Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Inserm, U1127, F-75013 Paris, France; CNRS, UMR 7225, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391847PMC
June 2017

Low cancer prevalence in polyglutamine expansion diseases.

Neurology 2017 Mar 15;88(12):1114-1119. Epub 2017 Feb 15.

From ICM Institut du Cerveau et de la Moelle Épinière (G.C., D.R., A.B., F.M., A.D.), Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127; Sorbonne Universités (A.D., S.T.d.M.), UPMC Univ Paris 06 UMR_S1136; INSERM UMR_S 1136 (A.D., S.T.d.M.), Institut Pierre Louis d'Epidémiologie et de Santé Publique; Institut Curie (M.S.T.), Paris; University Paris Sud 11 (M.S.T.), Orsay; CIC (F.C.), CHRU Pierre-Paul Riquet Hospital, Toulouse; CHU de Strasbourg-Hôpital de Hautepierre (O.L.B., C.T., M.A.); Fédération de Médecine Translationnelle de Strasbourg (FMTS) (O.L.B., C.T., M.A.), Université de Strasbourg; Department of Genetics (A.T., P.C., C.E., M.T., M.-L.M., A.B., F.M., A.D.) and Unit of Biostatistics (S.T.d.M.), APHP Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Charles-Foix University Hospital, Paris; Service de Neurologie (C.M., B.C.), CHRU Gui de Chauliac, Montpellier; Grenoble Alpes (S.H.), Grenoble Institut des Neurosciences; and INSERM (S.H.), U1216, Grenoble, France.

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http://dx.doi.org/10.1212/WNL.0000000000003725DOI Listing
March 2017

Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease.

J Neurol Neurosurg Psychiatry 2016 Oct 13;87(10):1106-11. Epub 2016 Apr 13.

Sorbonne Universités, UPMC Univ Paris 06, and INSERM UMRS_1127 and CIC_1422, and CNRS UMR_7225, and AP-HP, and ICM, Département des maladies du système nerveux and Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2015-312848DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098340PMC
October 2016

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

JAMA Neurol 2016 09;73(9):1105-14

Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière University Hospital, Department of Genetics, Paris, France3Institut du Cerveau et de la Moelle Epinière, Paris, France4Institut National de la Santé et de la Récherche Médicale Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Sorbonne Universités, Université Pierre et Marie Curie University Paris 06 Unité Mixte de Recherche S1127, Paris, France.

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http://dx.doi.org/10.1001/jamaneurol.2016.2215DOI Listing
September 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins.

Mol Neurodegener 2016 07 28;11(1):58. Epub 2016 Jul 28.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités UPMC, Univ Paris 06 UMR_S 1127, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital, 75013, Paris, France.

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http://dx.doi.org/10.1186/s13024-016-0123-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964261PMC
July 2016

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

Brain 2016 06 25;139(Pt 6):1723-34. Epub 2016 Mar 25.

1 Ecole Pratique des Hautes Etudes, EPHE, PSL université, laboratoire de neurogénétique, F-75013, Paris, France 2 Inserm, U1127, F-75013, Paris, France 3 CNRS, UMR7225, F-75013, Paris, France 4 Sorbonne Universités, UPMC Univ Paris 06, UMR_S1127, Institut du Cerveau et de la Moelle épinière - ICM, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

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http://dx.doi.org/10.1093/brain/aww061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839621PMC
June 2016

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Neurol Genet 2016 Jun 26;2(3):e80. Epub 2016 May 26.

Sorbonne Universités (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), UPMC Univ Paris 06, UMR S 1127, France; Inserm (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), U 1127, Paris, France; CNRS (P. Caroppo, A.C., L.G.-N., S.L., S.M., B.D., A.B., I.L.B.), UMR 7225, Paris, France; ICM (P. Caroppo, A.C., L.G.-N., M.T., S.L., S.M., B.D., A.B., I.L.B.), Paris, France; IRCCS Foundation "Carlo Besta" Neurological Institute, (P. Caroppo), Milan, Italy; Plein Ciel (C.T.-A.), Lyon; EA3082 Labo EMC (C.T.-A.), Université Lyon 2; Service de Neurologie (P. Couratier), Centre Hospitalo-Universitaire Dupuytren, Limoges, France; Department of Neurology (T.H.W., J.C.v.S.), Erasmus Medical Center, Rotterdam, the Netherlands; Centre de Référence des Démences Rares (M.T., F.C., B.D., I.L.B.), AP-HP Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France; Service de Neurologie (V.G.), Centre Hospitalier de Saint-Brieuc, Saint-Brieuc, France; CMRR (V.G., S.B.), Centre Hospitalo-Universitaire, Rennes, France; Service de Neurologie (S.A.), Centre Hospitalo-Universitaire Pellegrin, Bordeaux, France; Inserm-EPHE-Université de Caen/Basse-Normandie (S.B.), Unité U1077, GIP Cyceron, Caen, France; Neurology/Neuropsychology CMRR Unit (B.L.), CHU Nord, France; Institute of Medical Genetics (S.L.), Catholic University, University Hospital A. Gemelli, Roma, Italy; Unité Fonctionnelle de Neurogénétique Moléculaire et Cellulaire (F.C.), Unité Fonctionnelle de Génétique Clinique (A.B.), Département de Génétique et Cytogénétique, and Département de Neurologie (B.D., A.B., I.L.B.), AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882769PMC
June 2016

PINK1 and FLNA mutations association: A role for atypical parkinsonism?

Parkinsonism Relat Disord 2016 05 2;26:78-80. Epub 2016 Mar 2.

Département des Maladies du Système Nerveux, Centre Inter-Régional de Coordination de la Maladie de Parkinson, Hôpital Pitié-Salpêtrière, APHP, Paris, 75013, France; Université Pierre et Marie Curie-Paris 6, Laboratoire de Biologie du Développement, UMR 7622, Paris, 75005, France; Centre National de la Recherche Scientifique, Laboratoire de Biologie du Développement, UMR 7622 Paris, 75005, France.

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http://dx.doi.org/10.1016/j.parkreldis.2016.02.023DOI Listing
May 2016

Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.

BMC Neurosci 2016 Feb 1;17. Epub 2016 Feb 1.

Laboratory of Behavioral and Cognitive Neuroscience, FSB, University of Science and Technology Houari Boumediene, El Alia, Bab Ezzouar, BP 32, 16111, Algiers, Algeria.

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http://dx.doi.org/10.1186/s12868-016-0240-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736184PMC
February 2016

White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations.

Neurol Genet 2016 Feb 28;2(1):e47. Epub 2016 Jan 28.

Service de Neuroradiologie Diagnostique et Fonctionnelle (F.A., O.C., S.S., D.D., A. Bertrand), Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Clinique (A. Brice), Centre de Référence des Démences Rares (C.A., B.D., I.L.B.), and Département de Neurologie (O.C., C.A., B.D., I.L.B.), AP-HP Hôpital de la Pitié-Salpêtrière, Paris, France; INSERM (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), ICM, Paris, France; Sorbonne Université (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), UPMC Univ Paris, ICM, France; CNRS (O.C., P.C., D.D., A. Brice, B.D., I.L.B., A. Bertrand), ICM, Paris, France; INRIA (O.C., D.D., A. Bertrand), Centre Paris-Rocquencourt, France; ICM (O.C., P.C., D.D., A. Brice, C.A., B.D., I.L.B., A. Bertrand), Paris, France; Carlo Besta Institute (P.C.), Milan, Italy; and FrontLab (C.A.), INSERM, ICM, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817905PMC
February 2016

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.

Alzheimers Dement (Amst) 2015 Dec 30;1(4):481-6. Epub 2015 Oct 30.

Institut du Cerveau et de la Moelle épinière (ICM), CNRS UMR 7225, INSERM U 1127, Sorbonne Universités, Université Pierre et Marie, Univ Paris 06, UPMC-P6 UMR S 1127 - Hôpital Pitié-Salpêtrière, Paris, France; APHP, Département des Maladies du Système Nerveux, Hôpital de la Salpêtrière, Paris, France; Centre de Référence des Démences Rares, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.dadm.2015.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879495PMC
December 2015

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Neurol Genet 2015 Jun 18;1(1):e9. Epub 2015 Jun 18.

Institut du Cerveau et de la Moelle épinière, ICM, Inserm U 1127, CNRS, UMR 7225, Sorbonne Universités, UPMC University Paris 06 UMR S 1127 (S.L., F.C.-D., C.C., A.N., A.B.), Paris, France; Centre d'Investigation Clinique Pitié Neurosciences CIC-1422 (F.C.-D.); AP-HP, Hôpital de la Salpêtrière (A.B.), Department of Genetics and Cytogenetics, Paris, France; Department of Molecular Neuroscience (J.B., L.D., R.G., M.F., N.W., J.H.), UCL Institute of Neurology, London, United Kingdom; Laboratory of Neurogenetics (E.M., M.F., A.S.), National Institute on Aging, Bethesda, MD; Hertie Institute for Clinical Brain Research (P.H., T.G.), University of Tübingen and DZNE (P.H., T.G.), German Center for Neurodegenerative Diseases, Tübingen, Germany; and Institut des Maladies Neurodégénératives (F.T.), Université de Bordeaux et CHU de Bordeaux, Bordeaux, France.

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http://dx.doi.org/10.1212/NXG.0000000000000009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821081PMC
June 2015