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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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August 2016; 2 (4)

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The Helix

  • Open Access
    Pub-Med-dot-com, here we come!
    Stefan M. Pulst
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Editorials

  • Open Access
    A new dawn for genetic association studies in multiple sclerosis
    Orhun H. Kantarci
    • Abstract
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  • Open Access
    Rare disease clinical trialsPower in numbers
    Matthew P. Wicklund
    • Abstract
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Articles

  • Open Access
    Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
    Michaela F. George, Farren B.S. Briggs, Xiaorong Shao, Milena A. Gianfrancesco, Ingrid Kockum, Hanne F. Harbo, Elisabeth G. Celius, Steffan D. Bos, Anna Hedström, Ling Shen, Allan Bernstein, Lars Alfredsson, Jan Hillert, Tomas Olsson, Nikolaos A. Patsopoulos, Philip L. De Jager, Annette B. Oturai, Helle B. Søndergaard, Finn Sellebjerg, Per S. Sorensen, Refujia Gomez, Stacy J. Caillier, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sandra D'Alfonso, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Ingrid van der Mei, Bruce V. Taylor, Yuan Zhou, Catherine Schaefer, Lisa F. Barcellos
    • Abstract
    • Full Text
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  • Open Access
    The Clinical Outcome Study for dysferlinopathyAn international multicenter study
    Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Ursula Moore, Fiona E. Smith, Laura Rufibach, Avital Cnaan, Diana X. Bharucha-Goebel, Andrew M. Blamire, Elena Bravver, Pierre G. Carlier, John W. Day, Jordi Díaz-Manera, Michelle Eagle, Ulrike Grieben, Matthew Harms, Kristi J. Jones, Hanns Lochmüller, Jerry R. Mendell, Madoka Mori-Yoshimura, Carmen Paradas, Elena Pegoraro, Alan Pestronk, Emmanuelle Salort-Campana, Olivia Schreiber-Katz, Claudio Semplicini, Simone Spuler, Tanya Stojkovic, Volker Straub, Shin'ich Takeda, Carolina Tesi Rocha, M.C. Walter, Kate Bushby, For the Jain COS Consortium
    • Abstract
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  • Open Access
    APOE polymorphisms influence longitudinal lipid trends preceding intracerebral hemorrhage
    Chia-Ling Phuah, Miriam R. Raffeld, Alison M. Ayres, M. Edip Gurol, Anand Viswanathan, Steven M. Greenberg, Alessandro Biffi, Jonathan Rosand, Christopher D. Anderson
    • Abstract
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  • Open Access
    Trans-pQTL study identifies immune crosstalk between Parkinson and Alzheimer loci
    Gail Chan, Charles C. White, Phoebe A. Winn, Maria Cimpean, Joseph M. Replogle, Laura R. Glick, Nicole E. Cuerdon, Katie J. Ryan, Keith A. Johnson, Julie A. Schneider, David A. Bennett, Lori B. Chibnik, Reisa A. Sperling, Philip L. De Jager, Elizabeth M. Bradshaw
    • Abstract
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  • Open Access
    Complex relation of HLA-DRB1*1501, age at menarche, and age at multiple sclerosis onset
    Riley Bove, Alicia S. Chua, Zongqi Xia, Lori Chibnik, Philip L. De Jager, Tanuja Chitnis
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy
    Steven A. Hardy, Emma L. Blakely, Andrew I. Purvis, Mariana C. Rocha, Syeda Ahmed, Gavin Falkous, Joanna Poulton, Michael R. Rose, Olivia O'Mahony, Niamh Bermingham, Charlotte F. Dougan, Yi Shiau Ng, Rita Horvath, Doug M. Turnbull, Grainne S. Gorman, Robert W. Taylor
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  • Open Access
    Progressive myoclonus epilepsy associated with SACS gene mutations
    Fábio A. Nascimento, Laura Canafoglia, Danah Aljaafari, Mikko Muona, Anna-Elina Lehesjoki, Samuel F. Berkovic, Silvana Franceschetti, Danielle M. Andrade
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  • Open Access
    Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene
    Martin Paucar, Håkan Almqvist, Ahmed Saeed, Gösta Bergendal, Jan Ygge, Staffan Holmin, Ingemar Björkhem, Per Svenningsson
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  • Open Access
    TREM2 p.R47H substitution is not associated with dementia with Lewy bodies
    Ronald L. Walton, Alexandra I. Soto-Ortolaza, Melissa E. Murray, Oswaldo Lorenzo-Betancor, Kotaro Ogaki, Michael G. Heckman, Sruti Rayaprolu, Rosa Rademakers, Nilüfer Ertekin-Taner, Ryan J. Uitti, Jay A. van Gerpen, Zbigniew K. Wszolek, Glenn E. Smith, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, David T. Jones, Rodolfo Savica, Jonathan Graff-Radford, David S. Knopman, Ronald C. Petersen, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Bradley F. Boeve, Owen A. Ross, Catherine Labbé
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Correction

  • Mutation of TBCK causes a rare recessive developmental disorder
    • Full Text
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