Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant-Reference-Cited by-同舟云学术

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Intrafamilial phenotypic heterogeneity related to a new DMD splice site variant

Published:2021-08 Issue:8 Volume:31 Page:788-797
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Coimbra Neto Antônio Rodrigues,de Carvalho Samara Camaçari,Leoni Tauana Bernardes,Iwabe Cristina,Silva Thiago Quinaglia Araújo Costa,Coelho-Filho Otavio Rizzi,Marques Maria Julia,Nucci Anamarli,França Jr Marcondes Cavalcante

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Publisher

Elsevier BV

Subject

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

Reference33 articles.

1. The heart in human dystrophinopathies;Finsterer;Cardiology,2003

2. Dystrophin: the protein product of the Duchenne muscular dystrophy locus;Hoffman;Cell,1987

3. Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: a multicentric longitudinal study using the performance of upper limb test;Pane;Neuromuscul Disord,2015

4. Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne muscular dystrophy: an observational multicenter trial;Seferian;PLoS ONE,2015

5. Evidence-based path to newborn screening for Duchenne muscular dystrophy;Mendell;Ann Neurol,2012

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

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