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Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Smith, Bradley n ; Ticozzi, Nicola ; Fallini, Claudia ; Gkazi, Athina soragia ; Topp, Simon ; Kenna, Kevin p ; Scotter, Emma l ; Kost, Jason ; Keagle, Pamela ; Miller, Jack w ; Calini, Daniela ; Vance, Caroline ; Danielson, Eric w ; Troakes, Claire Slagen Consortium (Corporate Author)

Neuron, 22 October 2014, Vol.84(2), pp.324-331 [Periódico revisado por pares]

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kevin P Kenna ; Perry T C Van Doormaal ; Annelot M Dekker ; Nicola Ticozzi ; Brendan J Kenna ; Frank P Diekstra ; Wouter Van Rheenen ; Kristel R Van Eijk ; Ashley R Jones ; Pamela Keagle ; Aleksey Shatunov ; William Sproviero ; Bradley N Smith ; Michael A Van Es ; Simon D Topp ; Aoife Kenna ; Jack W Miller ; Claudia Fallini ; Cinzia Tiloca ; Russell L Mclaughlin ; Caroline Vance ; Claire Troakes ; Claudia Colombrita ; Gabriele Mora ; Andrea Calvo ; Federico Verde ; Safa Al-Sarraj ; Andrew King ; Daniela Calini ; Jacqueline De Belleroche ; Frank Baas ; Anneke J Van Der Kooi ; Marianne De Visser ; Anneloor L M A Ten Asbroek ; Peter C Sapp ; Diane Mckenna-Yasek ; Meraida Polak ; Seneshaw Asress ; José Luis Muñoz-Blanco ; Tim M Strom ; Thomas Meitinger ; Karen E Morrison ; Giuseppe Lauria ; Kelly L Williams ; P Nigel Leigh ; Garth A Nicholson ; Ian P Blair ; Claire S Leblond ; Patrick A Dion ; Guy A Rouleau ; Hardev Pall ; Pamela J Shaw ; Martin R Turner ; Kevin Talbot ; Franco Taroni ; Kevin B Boylan ; Marka Van Blitterswijk ; Rosa Rademakers ; Jesús Esteban-Pérez ; Alberto García-Redondo ; Phillip Van Damme ; Wim Robberecht ; Adriano Chio ; Cinzia Gellera ; Carsten Drepper ; Michael Sendtner ; Antonia Ratti ; Jonathan D Glass ; Jesús S Mora ; Nazli A Basak ; Orla Hardiman ; Albert C Ludolph ; Peter M Andersen ; Jochen H Weishaupt ; Robert H Brown Jr ; Ammar Al-Chalabi ; Vincenzo Silani ; Christopher E Shaw ; Leonard H Van Den Berg ; Jan H Veldink ; John E Landers

Nature Genetics, 2016 [Periódico revisado por pares]

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Association of single-nucleotide polymorphisms of the tau gene with late-onset parkinson disease

Martin, Eden R. ; Scott, William K. ; Nance, Martha A. ; Watts, Ray L. ; Hubble, Jean P. ; Koller, William C. ; Lyons, Kelly ; Pahwa, Rajesh ; Stern, Matthew B. ; Colcher, Amy ; Hiner, Bradley C. ; Jankovic, Joseph ; Ondo, William G. ; Allen Jr., Fred H. ; Goetz, Christopher G. ; Small, Gary W. ; Masterman, Donna ; Mastaglia, Frank ; Laing, Nigel G. ; Stajich, Jeffrey M. ; Ribble, Robert C. ; Booze, Michael W. ; Rogala, Allison ; Hauser, Michael A. ; Zhang, Fengyu ; Gibson, Rachel A. ; Middleton, Lefkos T. ; Roses, Allen D. ; Haines, Jonathan L. ; Scott, Burton L. ; Pericak-Vance, Margaret A. ; Vance, Jeffery M.

JAMA, The Journal of the American Medical Association, Nov 14, 2001, Vol.286(18), p.2245(6) [Periódico revisado por pares]

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Association study of Parkin gene polymorphisms with idiopathic Parkinson disease

Oliveira, Sofia A ; Scott, William K ; Nance, Martha A ; Watts, Ray L ; Hubble, Jean P ; Koller, William C ; Lyons, Kelly E ; Pahwa, Rajesh ; Stern, Matthew B ; Hiner, Bradley C ; Jankovic, Joseph ; Ondo, William G ; Allen, Fred H ; Scott, Burton L ; Goetz, Christopher G ; Small, Gary W ; Mastaglia, Frank L ; Stajich, Jeffrey M ; Zhang, Fengyu ; Booze

Archives of neurology, July 2003, Vol.60(7), pp.975-80 [Periódico revisado por pares]

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CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Kelly L. Williams ; Simon Topp ; Shu Yang ; Bradley Smith ; Jennifer A. Fifita ; Sadaf T. Warraich ; Katharine Y. Zhang ; Natalie Farrawell ; Caroline Vance ; Xun Hu ; Alessandra Chesi ; Claire S. Leblond ; Albert Lee ; Stephanie L. Rayner ; Vinod Sundaramoorthy ; Carol Dobson-Stone ; Mark P. Molloy ; Marka Van Blitterswijk ; Dennis W. Dickson ; Ronald C. Petersen ; Neill R. Graff-Radford ; Bradley F. Boeve ; Melissa E. Murray ; Cyril Pottier ; Emily Don ; Claire Winnick ; Emily P. Mccann ; Alison Hogan ; Hussein Daoud ; Annie Levert ; Patrick A. Dion ; Jun Mitsui ; Hiroyuki Ishiura ; Yuji Takahashi ; Jun Goto ; Jason Kost ; Cinzia Gellera ; Athina Soragia Gkazi ; Jack Miller ; Joanne Stockton ; William S. Brooks ; Karyn Boundy ; Meraida Polak ; José Luis Muñoz-Blanco ; Jesús Esteban-Pérez ; Alberto Rábano ; Orla Hardiman ; Karen E. Morrison ; Nicola Ticozzi ; Vincenzo Silani ; Jacqueline De Belleroche ; Jonathan D. Glass ; John B. J. Kwok ; Gilles J. Guillemin ; Roger S. Chung ; Shoji Tsuji ; Robert H. Brown Jr ; Alberto García-Redondo ; Rosa Rademakers ; John E. Landers ; Aaron D. Gitler ; Guy A. Rouleau ; Nicholas J. Cole ; Justin J. Yerbury ; Julie D. Atkin ; Christopher E. Shaw ; Garth A. Nicholson ; Ian P. Blair

Nature Communications, 2016, Vol.7 [Periódico revisado por pares]

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