Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature-Reference-Cited by-同舟云学术

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Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literature

Published:2024-04 Issue: Volume:37 Page:29-35
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Li Limin^ORCID,Menezes Manoj P.,Smith Melanie,Forbes Robin,Züchner Stephan,Burgess Amber,Woodcock Ian R.,Delatycki Martin B.,Yiu Eppie M.^ORCID

Publisher

Elsevier BV

Reference20 articles.

1. Emerging therapies and challenges in spinal muscular atrophy;Farrar;Ann Neurol,2017

2. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA);Wirth;Hum Mutat,2000

3. Population screening and cascade testing for carriers of SMA;Smith;Eur J Hum Genet,2007

4. 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;Cuscó;Hum Mutat,2003

5. A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA;Kirwin;Mol Genet Genom Med,2013

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