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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Pubmed ID: 
25497877
Year: 
2015
Month: 
FEB
Volume: 
138
Issue: 
Pt 2
Citation: 
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain : a journal of neurology 138 (Pt 2) : 293 - 310(2015) PubMed (Grant IDs: 1031983, 1022707)