216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands-Reference-Cited by-同舟云学术

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216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Published:2016-10 Issue:10 Volume:26 Page:717-724
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Richard Isabelle,Laurent Jean-Pierre,Cirak Sebahattin,Vissing John,Brown Susan,Campbell Kevin,Cirak Sebahattin,Gicquel Evelyne,Hogrel Jean-Yves,Honnet Géraldine,Koelma Nynke,Laurent Jean-Pierre,Mathews Katherine,Muntoni Francesco,Quijano-Roy Susana,Richard Isabelle,Robertson Agata,Stevenson Herb,Stojkovic Tanya,Straub Volker,Topaloglu Haluk,Vajsar Jiri,Vissing John,Walter Maggie

Funder

European Neuromuscular

Association Française contre les Myopathies

Deutsche Gesellschaft für Muskelkranke

Muscular Dystrophy

Muskelsvindfonden

Prinses Beatrix Spierfonds

Schweizerische Stiftung für die Erforschung der Muskelkrankheiten

Telethon Foundation

Spierziekten Nederland

Finnish Neuromuscular Association

LGMD2I Research Fund and Cure CMD

Publisher

Elsevier BV

Subject

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

Reference29 articles.

1. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C;Brockington;Hum Mol Genet,2001

2. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan;Brockington;Am J Hum Genet,2001

3. Mutations in the FKRP gene can cause muscle–eye–brain disease and Walker–Warburg syndrome;Beltran-Valero de Bernabe;J Med Genet,2004

4. Phenotypic spectrum associated with mutations in the fukutin-related protein gene;Mercuri;Ann Neurol,2003

5. FKRP (826C > A) frequently causes limb-girdle muscular dystrophy in German patients;Walter;J Med Genet,2004

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. Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy with a left ventricular ejection fraction of 27%: A case report;2024-09-04

2. Misdiagnosis of polymyositis in a young female patient with occult limb-girdle muscular dystrophy;Rheumatology Advances in Practice;2023-01-01

3. The Role of the Muscle Biopsy in the Era of Genetic Diagnosis;Current Clinical Neurology;2023

4. FKRP directed fibronectin glycosylation: A novel mechanism giving insights into muscular dystrophies?;BioEssays;2022-03

5. Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies;Stem Cell Reports;2021-11

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