Spinal muscular atrophy

[1]. A R La Spada, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77-9. [Content Brief]

[2]. Agnes L Nishimura, et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004 Nov;75(5):822-31. [Content Brief]

[3]. Ivon Cuscó, et al. A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat. 2003 Aug;22(2):136-43. [Content Brief]

[4]. Juliane Ramser, et al. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet. 2008 Jan;82(1):188-93. [Content Brief]

[5]. Kornelia Neveling, et al. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet. 2013 Jun 6;92(6):946-54. [Content Brief]

[6]. M B Harms, et al. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. [Content Brief]

[7]. Marina L Kennerson, et al. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12;86(3):343-52. [Content Brief]

[8]. Thomas W Prior, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009 Sep;85(3):408-13. [Content Brief]