SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings-Reference-Cited by-同舟云学术

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SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

Published:2005-06-28 Issue:1 Volume:253 Page:21-25
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Cuscó I.,Barceló M. J.,Rojas–García R.,Illa I.,Gámez J.,Cervera C.,Pou A.,Izquierdo G.,Baiget M.,Tizzano E. F.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-005-0912-y.pdf

Reference18 articles.

1. Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C (2004) Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy. Eur J Hum Genet 12:59–65

2. Bouwsma G, Leschot NJ (1986) Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis. Clin Genet 30:145–149

3. Brichta L, Hofmann Y, Hahnen E, Siebzehnrubl FA, Raschke H, Blumcke I, Eyupoglu IY, Wirth B (2003) Valproic acid increases the SMN2 protein level: a well–known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 12:2481–2489

4. Bussaglia E, Tizzano EF, Illa I, Cervera C, Baiget M (1997) Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene. Neurology 48:1443–1445

5. Capon F, Levato C, Merlini L, Angelini C, Mostacciuolo ML, Politano L, Novelli G, Dallapiccola B (1996) Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern. Neuromuscul Disord 6:261–264

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1. Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec;European Journal of Paediatric Neurology;2024-11

2. Subclinical spinal muscular atrophy in a 60-year-old man;Neuromuscular Disorders;2024-06

3. The impact of three SMN2 gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review;Frontiers in Neurology;2024-02-29

4. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2;Journal of Neurology;2024-02-27

5. Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg;International Journal of Neonatal Screening;2024-01-25

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