Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

AM Rossor; EC Oates; HK Salter; Y Liu; SM Murphy; R Schule; MA Gonzales; M Scoto; R Phadke; CA Sewry; H Houlden; A Jordanova; I Tournev; T Chamova; I Litvinenko; S Zuchner; DN Herrmann; J Blake; JE Sowden; G Acsadi; ML Rodriguez; MP Menezes; NF Clarke; M Auer Grumbach; SL Bullock; F Muntoni; MM Reilly; KN North

Journal article

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

AM Rossor, EC Oates, HK Salter, Y Liu, SM Murphy, R Schule, MA Gonzales, M Scoto, R Phadke, CA Sewry, H Houlden, A Jordanova, I Tournev, T Chamova, I Litvinenko, S Zuchner, DN Herrmann, J Blake, JE Sowden, G Acsadi Show all

Brain | OXFORD UNIV PRESS | Published : 2015

DOI: 10.1093/brain/awv160

Abstract

Alexander M. Rossor1, Emily C. Oates2,3, Hannah K. Salter4, Yang Liu4, Sinead M. Murphy5,6, Rebecca Schule7, Michael A. Gonzales8, Mariacristina Scoto9, Rahul Phadke1, Caroline A. Sewry9, Henry Houlden1, Albena Jordanova10,11,12, Iyailo Tournev13,14, Teodora Chamova13, Ivan Litvinenko15, Stephan Zuchner8, David N. Herrmann16, Julian Blake17,18, Janet E. Sowden19, Gyuda Acsadi20, Michael L. Rodriguez21,22, Manoj P. Menezes2,3, Nigel F. Clarke2,3, Michaela Auer Grumbach23, Simon L. Bullock4, Francesco Muntoni1,9, Mary M. Reilly1 and Kathryn N. North2,3,24,251 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, WC1N 3BG, UK2 Institute for Neuroscience and Muscle Research,..

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