Diagnosis and etiology of congenital muscular dystrophy: We are halfway there
Published 2016 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there
Authors
Keywords
-
Journal
ANNALS OF NEUROLOGY
Volume 80, Issue 1, Pages 101-111
Publisher
Wiley
Online
2016-05-10
DOI
10.1002/ana.24687
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Expanding the phenotype of GMPPB mutations
- (2015) Macarena Cabrera-Serrano et al. BRAIN
- Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
- (2015) Biljana Ilkovski et al. HUMAN MOLECULAR GENETICS
- Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders
- (2015) Jong Hee Chae et al. JOURNAL OF MEDICAL GENETICS
- Evidence-based guideline summary: Evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
- (2015) P. B. Kang et al. NEUROLOGY
- Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy
- (2015) Roula Ghaoui et al. JAMA Neurology
- A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield
- (2014) Arunkanth Ankala et al. ANNALS OF NEUROLOGY
- Diagnostic approach to the congenital muscular dystrophies
- (2014) Carsten G. Bönnemann et al. NEUROMUSCULAR DISORDERS
- Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
- (2013) Keren J. Carss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum
- (2013) D. X. Bharucha-Goebel et al. NEUROLOGY
- Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
- (2013) O. Ceyhan-Birsoy et al. NEUROLOGY
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations
- (2012) So-Young Huh et al. MUSCLE & NERVE
- Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008
- (2012) E.M. Clement et al. NEUROMUSCULAR DISORDERS
- Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
- (2010) Rachel D. Susman et al. NEUROMUSCULAR DISORDERS
- Rare childhood diseases: how should we respond?
- (2008) Y Zurynski et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Predominant fiber atrophy and fiber type disproportion in early ullrich disease
- (2008) Joachim Schessl et al. MUSCLE & NERVE
- Congenital muscular dystrophy in a new age
- (2008) J. W. Day NEUROLOGY
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now