Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1-Reference-Cited by-同舟云学术

Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1

Published:2018-10-08 Issue:6 Volume:94 Page:521-527
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mul Karlien¹^ORCID,Voermans Nicol C.¹,Lemmers Richard J.L.F.²,Jonker Marianne A.³,van der Vliet Patrick J.²,Padberg George W.¹,van Engelen Baziel G.M.¹,van der Maarel Silvère M.²,Horlings Corinne G.C.¹

Affiliation:

1. Department of NeurologyDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center Nijmegen The Netherlands

2. Department of Human GeneticsLeiden University Medical Center Leiden The Netherlands

3. Department of Health EvidenceRadboud University Medical Center Nijmegen The Netherlands

Funder

National Institute of Neurological Disorders and Stroke

Prinses Beatrix Spierfonds

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13446

Reference43 articles.

1. Population-based incidence and prevalence of facioscapulohumeral dystrophy

2. What's in a name? The clinical features of facioscapulohumeral muscular dystrophy

3. Evidence for anticipation and association of deletion size with severity in facioscapulohumerd muscular dystrophy

4. Risk of functional impairment in Facioscapulohumeral muscular dystrophy

5. Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Cited by 28 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. French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD);Journal of Neurology;2024-07-02

2. Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy;Annals of Laboratory Medicine;2024-05-10

3. Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study;Disability and Rehabilitation;2024-03-31

4. Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy;Genes;2023-11-30

5. MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy;Cell Reports;2023-09