Bryan J Traynor

Bryan J Traynor

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Bryan J Traynor

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Oligogenic basis of sporadic ALS: The example of p.Ala90Val mutation.

Neurol Genet 2019 Jun 23;5(3):e335. Epub 2019 Apr 23.

Department of Clinical Genetics (L.K.), Helsinki University Hospital; Department of Medical Genetics (L.K.), University of Helsinki, Helsinki, Finland; Molecular Neurology (K.K., M.V., P.J.T.), Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Department of Medical Genetics (S.M.), University of Helsinki, Helsinki, Finland and Turku; University Hospital (S.M.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Neurology (H.L.), Helsinki University Hospital, and Molecular Neurology, Research Programs Unit, Biomedicum, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center (M.J., B.U.), Tampere University Hospital and University of Tampere, Tampere, Finland; Division of Clinical Neurosciences (M.J.), Turku University Hospital and University of Turku, Turku, Finland; Folkhälsan Research Center (B.U.), Biomedicum, University of Helsinki, Helsinki, Finland; Institute of Biomedicine (P.P., J.S.), University of Turku; Turku University Hospital (P.P., J.S.), Laboratory Division, Genetics and Saske, Department of Medical Genetics, Turku, Finland; Department of Pathology (A.P.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Laboratory of Neurogenetics (B.J.T.), National Institute on Aging, National Institutes of Health, Bethesda, MD; Merck & Co. (D.J.S.), Inc., West Point, PA; Department of Clinical Genetics (M.P.), Helsinki University Hospital; Department of Medical Genetics (M.P.), University of Helsinki, Helsinki, Finland; Department of Neurology (P.J.T.), Helsinki University Hospital; and Department of Pathology (L.M.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1212/NXG.0000000000000335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481226PMC
June 2019

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.

Ann Neurol 2019 Apr 13;85(4):470-481. Epub 2019 Mar 13.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1002/ana.25431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6450729PMC
April 2019

C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition.

Neurobiol Aging 2019 Mar 11. Epub 2019 Mar 11.

Molecular Neurology, Research Programs Unit, Department of Neurology, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.026DOI Listing
March 2019

Gene-Environment-Time Interactions in Neurodegenerative Diseases: Hypotheses and Research Approaches.

Ann Neurosci 2018 Dec 4;25(4):261-267. Epub 2018 Dec 4.

Department of Neurology, Geisel School of Medicine at Dartmouth, Hanover, New Hampshire, USA.

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https://www.karger.com/Article/FullText/495321
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http://dx.doi.org/10.1159/000495321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470336PMC
December 2018

High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.

Neurobiol Aging 2018 04 27;64:160.e1-160.e7. Epub 2017 Dec 27.

The Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931221PMC
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 Mar;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

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.

Muscle Nerve 2018 02 25;57(2):212-216. Epub 2017 Apr 25.

"Rita Levi Montalcini" Department of Neuroscience, Neurology II, ALS Center, University of Torino, Via Cherasco 15, I-10126, Torino, Italy.

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http://dx.doi.org/10.1002/mus.25653DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912184PMC
February 2018

Alzheimer risk loci and associated neuropathology in a population-based study (Vantaa 85+).

Neurol Genet 2018 Feb 18;4(1):e211. Epub 2018 Jan 18.

Department of Pathology (M.M., A.E.P., M.T., L.M.), University of Helsinki, and Helsinki University Hospital, Finland; Molecular Neurology (K.K., M.V., T. Peuralinna, P.J.T.), Research Programs Unit, University of Helsinki, and Department of Neurology, Helsinki University Hospital, Finland; Institute of Neuroscience (T. Polvikoski), Newcastle University, United Kingdom; Laboratory of Neurogenetics (A.B.S., B.J.T.), National Institutes on Aging, NIH, Bethesda, MD; and Merck Research Laboratories (D.J.S.), Merck & Co., Inc., West Point, PA, USA.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773846PMC
February 2018

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Lancet Neurol 2018 01 16;17(1):94-102. Epub 2017 Nov 16.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA; Department of Neurology, Brain Sciences Institute, Johns Hopkins Hospital, Baltimore, MD, USA.

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http://dx.doi.org/10.1016/S1474-4422(17)30401-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901717PMC
January 2018

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging.

Sci Rep 2017 Dec 4;7(1):16890. Epub 2017 Dec 4.

Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41598-017-17322-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715102PMC
December 2017

Longitudinal imaging in mutation carriers: Relationship to phenotype.

Neuroimage Clin 2016 22;12:1035-1043. Epub 2016 Oct 22.

Department of Neurology, University of Maryland, 110 S. Paca Street, Baltimore, MD 21201, United States.

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https://linkinghub.elsevier.com/retrieve/pii/S22131582163019
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http://dx.doi.org/10.1016/j.nicl.2016.10.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153604PMC
November 2017

Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.

Muscle Nerve 2017 Nov 23;56(5):1001-1005. Epub 2017 Mar 23.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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http://doi.wiley.com/10.1002/mus.25550
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http://dx.doi.org/10.1002/mus.25550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494018PMC
November 2017

Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort.

Sci Rep 2017 Nov 20;7(1):15879. Epub 2017 Nov 20.

Center for Geriatric Medicine (CEMI), Department of Geriatrics, Neurosciences and Orthopedics, Catholic University of Sacred Heart, Rome, 00168, Italy.

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http://dx.doi.org/10.1038/s41598-017-13475-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696534PMC
November 2017

Disease progression in mutation carriers.

Neurology 2017 Jul 14;89(3):234-241. Epub 2017 Jun 14.

From the National Institute of Neurological Disorders and Stroke (M.K.F., J.F., L.E.B., M.T., E.A.W., T.W.) and National Institute of Aging (B.J.T.), NIH, Bethesda, MD.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5513817PMC
July 2017

Age-related penetrance of the C9orf72 repeat expansion.

Sci Rep 2017 05 18;7(1):2116. Epub 2017 May 18.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1038/s41598-017-02364-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437033PMC
May 2017

C9orf72 hexanucleotide repeat expansions are not a common cause of obsessive-compulsive disorder.

J Neurol Sci 2017 Apr 12;375:71-72. Epub 2017 Jan 12.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; Brain Science Institute, Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.jns.2017.01.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800785PMC
April 2017

Poly(GP) proteins are a useful pharmacodynamic marker for -associated amyotrophic lateral sclerosis.

Sci Transl Med 2017 03;9(383)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

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http://dx.doi.org/10.1126/scitranslmed.aai7866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576451PMC
March 2017

Dementia Research-A Roadmap for the Next Decade.

JAMA Neurol 2017 02;74(2):141-142

Department of Neuroscience, Mayo Clinic Florida, Jacksonville.

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http://dx.doi.org/10.1001/jamaneurol.2016.5004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808979PMC
February 2017

Tdp-43 cryptic exons are highly variable between cell types.

Mol Neurodegener 2017 02 2;12(1):13. Epub 2017 Feb 2.

Departments of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.

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http://dx.doi.org/10.1186/s13024-016-0144-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289002PMC
February 2017

Use of Genetic Testing in Amyotrophic Lateral Sclerosis by Neurologists.

JAMA Neurol 2017 Jan;74(1):125-126

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamaneurol.2016.4540DOI Listing
January 2017

Novel genetic loci associated with hippocampal volume.

Authors:
Derrek P Hibar Hieab H H Adams Neda Jahanshad Ganesh Chauhan Jason L Stein Edith Hofer Miguel E Renteria Joshua C Bis Alejandro Arias-Vasquez M Kamran Ikram Sylvane Desrivières Meike W Vernooij Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Ashley H Beecham Alexa Beiser Manon Bernard Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Qiang Chen Christopher R K Ching Vincent Chouraki Gabriel Cuellar-Partida Fabrice Crivello Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Oliver Grimm Michael E Griswold Tulio Guadalupe Boris A Gutman Johanna Hass Unn K Haukvik David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Kjetil N Jørgensen Nazanin Karbalai Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre F Marquand Mar Matarin Karen A Mather Manuel Mattheisen David R McKay Yuri Milaneschi Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Paul Nyquist Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Lukas Pirpamer Benno Pütz Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Stefan Ropele Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Arvin Saremi Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Stella Trompet Dhananjay Vaidya Jeroen Van der Grond Sven J Van der Lee Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Katharina Wittfeld Girma Woldehawariat Christiane Wolf Thomas Wolfers Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Anton J M De Craen Eco J C De Geus Philip L De Jager Greig I De Zubicaray Ian J Deary Stéphanie Debette Charles DeCarli Norman Delanty Chantal Depondt Anita DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Christian Enzinger Susanne Erk Thomas Espeseth Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Myriam Fornage Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Asta K Håberg Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Matthew Huentelman Hilleke E Hulshoff Pol Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Francis J McMahon Katie L McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Helena Schmidt Peter R Schofield Sigurdur Sigursson Andrew Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Magda Tsolaki Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad van der Lugt Nic J A van der Wee Neeltje E M Van Haren Dennis van 't Ent Marie-Jose Van Tol Badri N Vardarajan Bruno Vellas Dick J Veltman Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright Ronald H Zielke Alan B Zonderman Nicholas G Martin Cornelia M Van Duijn Margaret J Wright W T Longstreth Gunter Schumann Hans J Grabe Barbara Franke Lenore J Launer Sarah E Medland Sudha Seshadri Paul M Thompson M Arfan Ikram

Nat Commun 2017 01 18;8:13624. Epub 2017 Jan 18.

Department of Epidemiology, Erasmus University Medical Center, 3015 CE Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ncomms13624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253632PMC
January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association.

Authors:
Hieab H H Adams Derrek P Hibar Vincent Chouraki Jason L Stein Paul A Nyquist Miguel E Rentería Stella Trompet Alejandro Arias-Vasquez Sudha Seshadri Sylvane Desrivières Ashley H Beecham Neda Jahanshad Katharina Wittfeld Sven J Van der Lee Lucija Abramovic Saud Alhusaini Najaf Amin Micael Andersson Konstantinos Arfanakis Benjamin S Aribisala Nicola J Armstrong Lavinia Athanasiu Tomas Axelsson Alexa Beiser Manon Bernard Joshua C Bis Laura M E Blanken Susan H Blanton Marc M Bohlken Marco P Boks Janita Bralten Adam M Brickman Owen Carmichael M Mallar Chakravarty Ganesh Chauhan Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk Den Braber Nhat Trung Doan Stefan Ehrlich Irina Filippi Tian Ge Sudheer Giddaluru Aaron L Goldman Rebecca F Gottesman Corina U Greven Oliver Grimm Michael E Griswold Tulio Guadalupe Johanna Hass Unn K Haukvik Saima Hilal Edith Hofer David Hoehn Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Dalia Kasperaviciute Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Jiemin Liao David C M Liewald Lorna M Lopez Michelle Luciano Christine Macare Andre Marquand Mar Matarin Karen A Mather Manuel Mattheisen Bernard Mazoyer David R McKay Rebekah McWhirter Yuri Milaneschi Nazanin Mirza-Schreiber Ryan L Muetzel Susana Muñoz Maniega Kwangsik Nho Allison C Nugent Loes M Olde Loohuis Jaap Oosterlaan Martina Papmeyer Irene Pappa Lukas Pirpamer Sara Pudas Benno Pütz Kumar B Rajan Adaikalavan Ramasamy Jennifer S Richards Shannon L Risacher Roberto Roiz-Santiañez Nanda Rommelse Emma J Rose Natalie A Royle Tatjana Rundek Philipp G Sämann Claudia L Satizabal Lianne Schmaal Andrew J Schork Li Shen Jean Shin Elena Shumskaya Albert V Smith Emma Sprooten Lachlan T Strike Alexander Teumer Russell Thomson Diana Tordesillas-Gutierrez Roberto Toro Daniah Trabzuni Dhananjay Vaidya Jeroen Van der Grond Dennis Van der Meer Marjolein M J Van Donkelaar Kristel R Van Eijk Theo G M Van Erp Daan Van Rooij Esther Walton Lars T Westlye Christopher D Whelan Beverly G Windham Anderson M Winkler Girma Woldehawariat Christiane Wolf Thomas Wolfers Bing Xu Lisa R Yanek Jingyun Yang Alex Zijdenbos Marcel P Zwiers Ingrid Agartz Neelum T Aggarwal Laura Almasy David Ames Philippe Amouyel Ole A Andreassen Sampath Arepalli Amelia A Assareh Sandra Barral Mark E Bastin Diane M Becker James T Becker David A Bennett John Blangero Hans van Bokhoven Dorret I Boomsma Henry Brodaty Rachel M Brouwer Han G Brunner Randy L Buckner Jan K Buitelaar Kazima B Bulayeva Wiepke Cahn Vince D Calhoun Dara M Cannon Gianpiero L Cavalleri Christopher Chen Ching-Yu Cheng Sven Cichon Mark R Cookson Aiden Corvin Benedicto Crespo-Facorro Joanne E Curran Michael Czisch Anders M Dale Gareth E Davies Eco J C De Geus Philip L De Jager Greig I de Zubicaray Norman Delanty Chantal Depondt Anita L DeStefano Allissa Dillman Srdjan Djurovic Gary Donohoe Wayne C Drevets Ravi Duggirala Thomas D Dyer Susanne Erk Thomas Espeseth Denis A Evans Iryna O Fedko Guillén Fernández Luigi Ferrucci Simon E Fisher Debra A Fleischman Ian Ford Tatiana M Foroud Peter T Fox Clyde Francks Masaki Fukunaga J Raphael Gibbs David C Glahn Randy L Gollub Harald H H Göring Hans J Grabe Robert C Green Oliver Gruber Vilmundur Gudnason Sebastian Guelfi Narelle K Hansell John Hardy Catharina A Hartman Ryota Hashimoto Katrin Hegenscheid Andreas Heinz Stephanie Le Hellard Dena G Hernandez Dirk J Heslenfeld Beng-Choon Ho Pieter J Hoekstra Wolfgang Hoffmann Albert Hofman Florian Holsboer Georg Homuth Norbert Hosten Jouke-Jan Hottenga Hilleke E Hulshoff Pol Masashi Ikeda M Kamran Ikram Clifford R Jack Mark Jenkinson Robert Johnson Erik G Jönsson J Wouter Jukema René S Kahn Ryota Kanai Iwona Kloszewska David S Knopman Peter Kochunov John B Kwok Stephen M Lawrie Hervé Lemaître Xinmin Liu Dan L Longo W T Longstreth Oscar L Lopez Simon Lovestone Oliver Martinez Jean-Luc Martinot Venkata S Mattay Colm McDonald Andrew M McIntosh Katie L McMahon Francis J McMahon Patrizia Mecocci Ingrid Melle Andreas Meyer-Lindenberg Sebastian Mohnke Grant W Montgomery Derek W Morris Thomas H Mosley Thomas W Mühleisen Bertram Müller-Myhsok Michael A Nalls Matthias Nauck Thomas E Nichols Wiro J Niessen Markus M Nöthen Lars Nyberg Kazutaka Ohi Rene L Olvera Roel A Ophoff Massimo Pandolfo Tomas Paus Zdenka Pausova Brenda W J H Penninx G Bruce Pike Steven G Potkin Bruce M Psaty Simone Reppermund Marcella Rietschel Joshua L Roffman Nina Romanczuk-Seiferth Jerome I Rotter Mina Ryten Ralph L Sacco Perminder S Sachdev Andrew J Saykin Reinhold Schmidt Peter R Schofield Sigurdur Sigurdsson Andy Simmons Andrew Singleton Sanjay M Sisodiya Colin Smith Jordan W Smoller Hilkka Soininen Velandai Srikanth Vidar M Steen David J Stott Jessika E Sussmann Anbupalam Thalamuthu Henning Tiemeier Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Christophe Tzourio Andre G Uitterlinden Maria C Valdés Hernández Marcel Van der Brug Aad Van der Lugt Nic J A Van der Wee Cornelia M Van Duijn Neeltje E M Van Haren Dennis Van T Ent Marie-Jose Van Tol Badri N Vardarajan Dick J Veltman Meike W Vernooij Henry Völzke Henrik Walter Joanna M Wardlaw Thomas H Wassink Michael E Weale Daniel R Weinberger Michael W Weiner Wei Wen Eric Westman Tonya White Tien Y Wong Clinton B Wright H Ronald Zielke Alan B Zonderman Ian J Deary Charles DeCarli Helena Schmidt Nicholas G Martin Anton J M De Craen Margaret J Wright Lenore J Launer Gunter Schumann Myriam Fornage Barbara Franke Stéphanie Debette Sarah E Medland M Arfan Ikram Paul M Thompson

Nat Neurosci 2016 12 3;19(12):1569-1582. Epub 2016 Oct 3.

Imaging Genetics Center, USC Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.

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http://dx.doi.org/10.1038/nn.4398DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5227112PMC
December 2016

Cortical hyperexcitability in patients with C9ORF72 mutations: Relationship to phenotype.

Muscle Nerve 2016 08 25;54(2):264-9. Epub 2016 May 25.

Motor Neuron Disorders Unit, National Institutes of Health, Bethesda, Maryland, USA.

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August 2016

Projected increase in amyotrophic lateral sclerosis from 2015 to 2040.

Nat Commun 2016 08 11;7:12408. Epub 2016 Aug 11.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ncomms12408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987527PMC
August 2016

TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

Neurobiol Aging 2016 07 9;43:180.e1-5. Epub 2016 Apr 9.

"Rita Levi Montalcini" Department of Neuroscience, Amyotrophic Lateral Sclerosis Center, University of Turin, Turin, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy; Institute of Cognitive Sciences and Technologies, Consiglio Nazionale delle Ricerche, Rome, Italy. Electronic address:

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July 2016

To Dement or Not to Dement, That Is the Question.

JAMA Neurol 2016 Apr;73(4):383-4

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland3Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neu.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810547PMC
April 2016

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

Neurology 2016 Feb 6;86(5):446-53. Epub 2016 Jan 6.

From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine (V.E.D., A.O.-U.), Tel Aviv University, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773945PMC
February 2016

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

Neurobiol Aging 2015 Oct 25;36(10):2906.e1-5. Epub 2015 Jun 25.

ALS Center, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy; Neurology II, Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193218PMC
October 2015

[An] enumeration shall be made….

Neurology 2015 Oct 4;85(14):1191-2. Epub 2015 Sep 4.

From the Neuromuscular Diseases Research Section (B.J.T.), Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD; and Fondazione Ospedale San Camillo IRCCS (C.A.), Venice, Italy.

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October 2015

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Brain 2015 Sep 31;138(Pt 9):e380. Epub 2015 Mar 31.

1 Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, 60 Leonard Street, Toronto, Ontario, Canada, M5T 2S8 8 Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada M5S 1A8

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September 2015

Genome-wide association study of neocortical Lewy-related pathology.

Ann Clin Transl Neurol 2015 Sep 18;2(9):920-31. Epub 2015 Aug 18.

Molecular Neurology, Research Program Unit, Biomedicum, University of Helsinki Helsinki, Finland ; Department of Neurology, Helsinki University Central Hospital Helsinki, Finland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574809PMC
September 2015

Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

Brain Res 2015 May 12;1607:75-93. Epub 2014 Oct 12.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916786PMC
May 2015

Common genetic variants influence human subcortical brain structures.

Authors:
Derrek P Hibar Jason L Stein Miguel E Renteria Alejandro Arias-Vasquez Sylvane Desrivières Neda Jahanshad Roberto Toro Katharina Wittfeld Lucija Abramovic Micael Andersson Benjamin S Aribisala Nicola J Armstrong Manon Bernard Marc M Bohlken Marco P Boks Janita Bralten Andrew A Brown M Mallar Chakravarty Qiang Chen Christopher R K Ching Gabriel Cuellar-Partida Anouk den Braber Sudheer Giddaluru Aaron L Goldman Oliver Grimm Tulio Guadalupe Johanna Hass Girma Woldehawariat Avram J Holmes Martine Hoogman Deborah Janowitz Tianye Jia Sungeun Kim Marieke Klein Bernd Kraemer Phil H Lee Loes M Olde Loohuis Michelle Luciano Christine Macare Karen A Mather Manuel Mattheisen Yuri Milaneschi Kwangsik Nho Martina Papmeyer Adaikalavan Ramasamy Shannon L Risacher Roberto Roiz-Santiañez Emma J Rose Alireza Salami Philipp G Sämann Lianne Schmaal Andrew J Schork Jean Shin Lachlan T Strike Alexander Teumer Marjolein M J van Donkelaar Kristel R van Eijk Raymond K Walters Lars T Westlye Christopher D Whelan Anderson M Winkler Marcel P Zwiers Saud Alhusaini Lavinia Athanasiu Stefan Ehrlich Marina M H Hakobjan Cecilie B Hartberg Unn K Haukvik Angelien J G A M Heister David Hoehn Dalia Kasperaviciute David C M Liewald Lorna M Lopez Remco R R Makkinje Mar Matarin Marlies A M Naber D Reese McKay Margaret Needham Allison C Nugent Benno Pütz Natalie A Royle Li Shen Emma Sprooten Daniah Trabzuni Saskia S L van der Marel Kimm J E van Hulzen Esther Walton Christiane Wolf Laura Almasy David Ames Sampath Arepalli Amelia A Assareh Mark E Bastin Henry Brodaty Kazima B Bulayeva Melanie A Carless Sven Cichon Aiden Corvin Joanne E Curran Michael Czisch Greig I de Zubicaray Allissa Dillman Ravi Duggirala Thomas D Dyer Susanne Erk Iryna O Fedko Luigi Ferrucci Tatiana M Foroud Peter T Fox Masaki Fukunaga J Raphael Gibbs Harald H H Göring Robert C Green Sebastian Guelfi Narelle K Hansell Catharina A Hartman Katrin Hegenscheid Andreas Heinz Dena G Hernandez Dirk J Heslenfeld Pieter J Hoekstra Florian Holsboer Georg Homuth Jouke-Jan Hottenga Masashi Ikeda Clifford R Jack Mark Jenkinson Robert Johnson Ryota Kanai Maria Keil Jack W Kent Peter Kochunov John B Kwok Stephen M Lawrie Xinmin Liu Dan L Longo Katie L McMahon Eva Meisenzahl Ingrid Melle Sebastian Mohnke Grant W Montgomery Jeanette C Mostert Thomas W Mühleisen Michael A Nalls Thomas E Nichols Lars G Nilsson Markus M Nöthen Kazutaka Ohi Rene L Olvera Rocio Perez-Iglesias G Bruce Pike Steven G Potkin Ivar Reinvang Simone Reppermund Marcella Rietschel Nina Romanczuk-Seiferth Glenn D Rosen Dan Rujescu Knut Schnell Peter R Schofield Colin Smith Vidar M Steen Jessika E Sussmann Anbupalam Thalamuthu Arthur W Toga Bryan J Traynor Juan Troncoso Jessica A Turner Maria C Valdés Hernández Dennis van 't Ent Marcel van der Brug Nic J A van der Wee Marie-Jose van Tol Dick J Veltman Thomas H Wassink Eric Westman Ronald H Zielke Alan B Zonderman David G Ashbrook Reinmar Hager Lu Lu Francis J McMahon Derek W Morris Robert W Williams Han G Brunner Randy L Buckner Jan K Buitelaar Wiepke Cahn Vince D Calhoun Gianpiero L Cavalleri Benedicto Crespo-Facorro Anders M Dale Gareth E Davies Norman Delanty Chantal Depondt Srdjan Djurovic Wayne C Drevets Thomas Espeseth Randy L Gollub Beng-Choon Ho Wolfgang Hoffmann Norbert Hosten René S Kahn Stephanie Le Hellard Andreas Meyer-Lindenberg Bertram Müller-Myhsok Matthias Nauck Lars Nyberg Massimo Pandolfo Brenda W J H Penninx Joshua L Roffman Sanjay M Sisodiya Jordan W Smoller Hans van Bokhoven Neeltje E M van Haren Henry Völzke Henrik Walter Michael W Weiner Wei Wen Tonya White Ingrid Agartz Ole A Andreassen John Blangero Dorret I Boomsma Rachel M Brouwer Dara M Cannon Mark R Cookson Eco J C de Geus Ian J Deary Gary Donohoe Guillén Fernández Simon E Fisher Clyde Francks David C Glahn Hans J Grabe Oliver Gruber John Hardy Ryota Hashimoto Hilleke E Hulshoff Pol Erik G Jönsson Iwona Kloszewska Simon Lovestone Venkata S Mattay Patrizia Mecocci Colm McDonald Andrew M McIntosh Roel A Ophoff Tomas Paus Zdenka Pausova Mina Ryten Perminder S Sachdev Andrew J Saykin Andy Simmons Andrew Singleton Hilkka Soininen Joanna M Wardlaw Michael E Weale Daniel R Weinberger Hieab H H Adams Lenore J Launer Stephan Seiler Reinhold Schmidt Ganesh Chauhan Claudia L Satizabal James T Becker Lisa Yanek Sven J van der Lee Maritza Ebling Bruce Fischl W T Longstreth Douglas Greve Helena Schmidt Paul Nyquist Louis N Vinke Cornelia M van Duijn Luting Xue Bernard Mazoyer Joshua C Bis Vilmundur Gudnason Sudha Seshadri M Arfan Ikram Nicholas G Martin Margaret J Wright Gunter Schumann Barbara Franke Paul M Thompson Sarah E Medland

Nature 2015 Apr 21;520(7546):224-9. Epub 2015 Jan 21.

QIMR Berghofer Medical Research Institute, Brisbane 4006, Australia.

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April 2015

A genome-wide association study of myasthenia gravis.

JAMA Neurol 2015 Apr;72(4):396-404

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland11Department of Neurology, Johns Hopkins School of Medicine, Baltimore, M.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856525PMC
April 2015

Genetics. For complex disease genetics, collaboration drives progress.

Science 2015 Mar;347(6229):1422-3

Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5810558PMC
March 2015

Motor neuron disease in 2014. Biomarkers for ALS--in search of the Promised Land.

Nat Rev Neurol 2015 Feb 23;11(2):72-4. Epub 2014 Dec 23.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/nrneurol.2014.250DOI Listing
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February 2015

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

Alzheimer Dis Assoc Disord 2014 Apr-Jun;28(2):190-3

Departments of *Neurology ‡Ophthalmology, Institute of Clinical Medicine, University of Oulu †Clinical Research Center, Oulu University Hospital, Oulu, Finland §Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD ∥Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland ¶Department of Neurology, Kuopio University Hospital, Kuopio, Finland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511614PMC
January 2015

Exploring the epigenetics of Alzheimer disease.

JAMA Neurol 2015 Jan;72(1):8-9

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.

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January 2015

Genetic architecture of ALS in Sardinia.

Neurobiol Aging 2014 Dec 18;35(12):2882.e7-2882.e12. Epub 2014 Jul 18.

Amyotrophic Lateral Sclerosis Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy; Department of Neurosciences, Ophthalmology, Genetics, Rehabilitation and Child Health, University of Genoa, Genoa, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin, Italy; Neuroscience Institute of Torino (NIT), Turin, Italy. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252367PMC
December 2014

Special Issue on amyotrophic lateral sclerosis.

Exp Neurol 2014 Dec 23;262 Pt B:73-4. Epub 2014 Aug 23.

Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559336PMC
December 2014

Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Brain 2014 Dec 26;137(Pt 12):e311. Epub 2014 Sep 26.

1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240285PMC
December 2014

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion.

Neurobiol Aging 2014 Oct 18;35(10):2419.e17-21. Epub 2014 Apr 18.

Division of Geriatric Psychiatry and Neuropsychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA. Electronic address:

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October 2014

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis.

JAMA Neurol 2014 Sep;71(9):1123-34

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamaneurol.2014.1184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566960PMC
September 2014

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia.

Alzheimers Res Ther 2012 26;4(4):30. Epub 2012 Jul 26.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506944PMC
June 2014

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Neurobiol Aging 2014 Jun 27;35(6):1513.e7-11. Epub 2013 Dec 27.

"Rita Levi Montalcini" Department of Neuroscience, ALS Center, University of Torino, Torino, Italy; Neuroscience Institute of Torino, Torino, Italy. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961545PMC
June 2014

A roadmap for genetic testing in ALS.

Authors:
Bryan J Traynor

J Neurol Neurosurg Psychiatry 2014 May 18;85(5):476. Epub 2013 Jul 18.

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http://dx.doi.org/10.1136/jnnp-2013-305726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568817PMC
May 2014

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion.

Acta Neuropathol 2014 Mar 5;127(3):391-6. Epub 2014 Feb 5.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00401-014-1250-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545603PMC
March 2014

State of play in amyotrophic lateral sclerosis genetics.

Nat Neurosci 2014 Jan 26;17(1):17-23. Epub 2013 Dec 26.

1] Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA. [2] Department of Neurology, Brain Sciences Institute, Johns Hopkins University, Baltimore, Maryland, USA.

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January 2014

Homozygosity analysis in amyotrophic lateral sclerosis.

Eur J Hum Genet 2013 Dec 24;21(12):1429-35. Epub 2013 Apr 24.

Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, and Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.

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December 2013

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics.

Am J Neurodegener Dis 2013 29;2(4):276-86. Epub 2013 Nov 29.

Section of Geriatric Psychiatry, Department of Clinical Sciences, Lund University Klinikgatan 22, Lund SE-221 85, Sweden.

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December 2013

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.

Neuron 2013 Oct;80(2):415-28

Department of Neurology, Johns Hopkins University, 855 N Wolfe Street, Rangos 2-270, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University, 855 N Wolfe Street, Rangos 2-270, Baltimore, MD 21205, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098943PMC
October 2013

Clinical Characteristics of C9ORF72-Linked Frontotemporal Lobar Degeneration.

Dement Geriatr Cogn Dis Extra 2013 20;3(1):251-62. Epub 2013 Aug 20.

Department of Neurology, Institute of Clinical Medicine, University of Oulu, Kuopio, Finland ; Clinical Research Center, Oulu University Hospital, Kuopio, Finland.

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September 2013

GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia.

Front Hum Neurosci 2013 26;7:461. Epub 2013 Aug 26.

Department of Neurology, Institute of Clinical Medicine, University of Oulu Oulu, Finland ; Department of Neurology, Oulu University Hospital Oulu, Finland.

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http://dx.doi.org/10.3389/fnhum.2013.00461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752460PMC
August 2013

CRESTing the ALS mountain.

Nat Neurosci 2013 Jul;16(7):774-5

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565517PMC
July 2013

Age-associated changes in gene expression in human brain and isolated neurons.

Neurobiol Aging 2013 Apr 21;34(4):1199-209. Epub 2012 Nov 21.

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892-3707, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545059PMC
April 2013

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

Neurobiol Aging 2013 Jan 22;34(1):357.e1-5. Epub 2012 Aug 22.

ALS Center, Department of Neuroscience, University of Torino, and Azienda Ospedale Università San Giovanni Battista, Torino, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483408PMC
January 2013

Extensive genetics of ALS: a population-based study in Italy.

Neurology 2012 Nov 24;79(19):1983-9. Epub 2012 Oct 24.

ALS Center, Department of Neurosciences, University of Torino and AOU San Giovanni Battista of Torino, Torino, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484987PMC
November 2012

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease.

Neurobiol Aging 2012 Oct 20;33(10):2527.e1-2. Epub 2012 Jun 20.

Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545506PMC
October 2012

Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Sep 8;33(9):2231.e1-2231.e6. Epub 2012 May 8.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3391327PMC
September 2012

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.

Neurobiol Aging 2012 Aug 6;33(8):1850.e13-6. Epub 2012 Apr 6.

Department of Pathology, Lund University, Regional Laboratories Region Skåne, Lund, Sweden.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562220PMC
August 2012

Road to the chromosome 9p-linked ALS/FTD locus.

Authors:
Bryan J Traynor

J Neurol Neurosurg Psychiatry 2012 Apr;83(4):356-7

Laboratory of Neurogenetics, NIA, NIH, Bethesda, MD 20892, USA.

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April 2012