Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms-Reference-Cited by-同舟云学术

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Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms

Published:2020-04 Issue:4 Volume:30 Page:315-328
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Banerji Christopher R.S.,Cammish Phillip,Evangelista Teresinha,Zammit Peter S.,Straub Volker,Marini-Bettolo Chiara

Publisher

Elsevier BV

Subject

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

Reference51 articles.

1. Population-based incidence and prevalence of facioscapulohumeral dystrophy;Deenen;Neurology,2014

2. Facioscapulohumeral dystrophy: the path to consensus on pathophysiology;Tawil;Skelet Muscle,2014

3. A unifying genetic model for facioscapulohumeral muscular dystrophy;Lemmers;Science,2010

4. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2;Lemmers;Nat Genet,2012

5. Mutations in dnmt3b modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy;van den Boogaard;Am J Hum Genet,2016

Cited by 16 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 Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy;Annals of Laboratory Medicine;2024-05-10

2. Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases;Journal of Neuromuscular Diseases;2024-04-30

3. Quantifying morphological changes in middle trapezius with ultrasound scanning and a novel histogram-matching algorithm for adults with and without Facioscapulohumeral dystrophy (FSHD);2024-01-12

4. FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation;Human Molecular Genetics;2023-10-19

5. Symptom onset and cellular pathology in facioscapulohumeral muscular dystrophy is accelerated by cigarette smoking;2023-05-24

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