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Quoted phrase not found in phrase index: "Adult-onset proximal spinal muscular atrophy, autosomal dominant"
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Autosomal dominant spinal muscular atrophy: a clinical and genetic study.
Pearn J. Pearn J. J Neurol Sci. 1978 Sep;38(2):263-75. doi: 10.1016/0022-510x(78)90072-2. J Neurol Sci. 1978. PMID: 712386
A clinical and genetic study of 6 kindreds (13 patients) with autosomal dominant spinal muscular atrophy is presented. Evidence is presented to indicate that two separate autosomal dominant genes are involved. ...Incidence figures …
A clinical and genetic study of 6 kindreds (13 patients) with autosomal dominant spinal muscular atrophy …
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K. Rudnik-Schöneborn S, et al. Neurogenetics. 2007 Apr;8(2):137-42. doi: 10.1007/s10048-006-0070-0. Epub 2006 Nov 29. Neurogenetics. 2007. PMID: 17136397
The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. ...Our findings extend the spectrum of laminopathies and are of relevance for genetic counseling and clinical care of families presenting with adul …
The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. ...Our fin …
Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.
Sagnelli A, Scaioli V, Piscosquito G, Salsano E, Dalla Bella E, Gellera C, Pareyson D. Sagnelli A, et al. Neuromuscul Disord. 2015 Oct;25(10):800-1. doi: 10.1016/j.nmd.2015.07.015. Epub 2015 Jul 29. Neuromuscul Disord. 2015. PMID: 26298608
Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy m …
Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion …
A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity.
Pearn JH, Hudgson P, Walton JN. Pearn JH, et al. Brain. 1978 Dec;101(4):591-606. doi: 10.1093/brain/101.4.591. Brain. 1978. PMID: 737522
A clinical and genetic study of spinal muscular atrophy (SMA) of adult onset is reported. A genetic analysis of all cases of SMA occurring over a ten-year period in North-east England (48 index cases) has shown that chronic proximal SMA o …
A clinical and genetic study of spinal muscular atrophy (SMA) of adult onset is reported. A genetic analy …
SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.
Rudnik-Schöneborn S, Arning L, Epplen JT, Zerres K. Rudnik-Schöneborn S, et al. Neuromuscul Disord. 2012 Mar;22(3):258-62. doi: 10.1016/j.nmd.2011.09.006. Epub 2011 Nov 15. Neuromuscul Disord. 2012. PMID: 22088787
Autosomal dominant proximal spinal muscular atrophy (ADSMA) is a rare disorder with unknown gene defects in the majority of families. Here we describe a family where the diagnosis of juvenile and adult onset ADSMA was made i …
Autosomal dominant proximal spinal muscular atrophy (ADSMA) is a rare disorder with unknown gene d …