Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin-Reference-Cited by-同舟云学术

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Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Published:2014-11 Issue:11 Volume:24 Page:986-989
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Zatz M.,Pavanello R.C.M.,Lazar M.,Yamamoto G.L.,Lourenço N.C.V.,Cerqueira A.,Nogueira L.,Vainzof M.

Funder

FAPESP/CEPID, CNPq, Duchenne research fund and ABDIM

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference12 articles.

1. Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy;Dubowitz;Neuromuscul Disord,2006

2. Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog;Zucconi;Neuromuscul Disord,2010

3. Benign Duchenne muscular dystrophy in a patient with growth hormone deficiency: a five years follow-up;Zatz;Am J Med Genet,1986

4. Duchenne muscular dystrophy with associated growth hormone deficiency;Ghafoor;J Coll Physicians Surg Pak,2003

5. A 19-year-old ambulant Duchenne patient with stunted growth on long-term corticosteroids;Merlini;Neuromuscul Disord,2014

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1. Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?;Nature Reviews Neurology;2023-06-12

2. Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants;Journal of Neurology;2022-11-02

3. Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing;Journal of Human Genetics;2022-04-15

4. Dystrophin genetic variants and autism;Discover Mental Health;2022-03-24

5. Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant;Neuromuscular Disorders;2021-08

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