Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy-Reference-Cited by-同舟云学术

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Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Published:2017-09-06 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Harris Elizabeth,Topf Ana,Barresi Rita,Hudson Judith,Powell Helen,Tellez James,Hicks Debbie,Porter Anna,Bertoli Marta,Evangelista Teresinha,Marini-Betollo Chiara,Magnússon Ólafur,Lek Monkol,MacArthur Daniel,Bushby Kate,Lochmüller Hanns,Straub Volker

Funder

Medical Research Council UK

European Union Seventh Framework Programme

Muscular Dystrophy UK

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0699-9.pdf

Reference58 articles.

1. Murphy AP, Straub V. The classification, natural history and treatment of the limb girdle muscular dystrophies. J Neuromuscul Dis. 2015;2:S7–S19.

2. Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, Wicklund M, Barohn RJ, Ensrud E, Griggs RC. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: 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. Neurology. 2014;83(16):1453–63.

3. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies; 2009. p. 314–23.

4. Straub V, Carlier PG, Mercuri E. TREAT-NMD workshop: pattern recognition in genetic muscle diseases using muscle MRI: 25-26 February 2011, Rome, Italy. Neuromuscul Disord. 2012;22(Suppl 2):S42–53.

5. Bloss S, Klemann C, Rother AK, Mehmecke S, Schumacher U, Mucke U, Mucke M, Stieber C, Klawonn F, Kortum X, et al. Diagnostic needs for rare diseases and shared prediagnostic phenomena: results of a German-wide expert Delphi survey. PLoS One. 2017;12:e0172532.

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1. An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy;International Journal of Molecular Sciences;2024-07-16

2. Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients;Frontiers in Genetics;2024-05-15

3. Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels;Molecular Syndromology;2023-10-16

4. Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions;Muscle & Nerve;2023-10-03

5. Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders;Frontiers in Neurology;2023-05-18

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