Targeted next-generation sequencing assay for detection of mutations in primary myopathies-Reference-Cited by-同舟云学术

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Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Published:2016-01 Issue:1 Volume:26 Page:7-15
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Evilä Anni,Arumilli Meharji,Udd Bjarne,Hackman Peter

Funder

Folkhälsan Research Foundation

Jane and Aatos Erkko Foundation

Association Française contre les Myopathies

Academy of Finland

Sigrid Jusélius Foundation

Liv och Hälsa Foundation

Tampere University Hospital Research Funds (B.U.)

Publisher

Elsevier BV

Subject

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

Reference43 articles.

1. Muscular dystrophies;Mercuri;Lancet,2013

2. The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome);Kaplan;Neuromuscul Disord,2014

3. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin;Ohlsson;Brain,2012

4. Titin mutation segregates with hereditary myopathy with early respiratory failure;Pfeffer;Brain,2012

5. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy;Ceyhan-Birsoy;Neurology,2013

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