Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development-Reference-Cited by-同舟云学术

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Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development

Published:2020-06 Issue:6 Volume:19 Page:522-532
ISSN:1474-4422
Container-title:The Lancet Neurology
language:en
Short-container-title:The Lancet Neurology

Author:

Thompson Rachel,Spendiff Sally,Roos Andreas,Bourque Pierre R,Warman Chardon Jodi,Kirschner Janbernd,Horvath Rita,Lochmüller Hanns

Funder

Canadian Institutes of Health Research

Canadian Institutes of Health Research and Muscular Dystrophy Canada

Canada Foundation for Innovation

Publisher

Elsevier BV

Subject

Clinical Neurology

Reference90 articles.

1. The challenge of next generation sequencing in the context of neuromuscular diseases;Lek;J Neuromuscul Dis,2014

2. Diagnosis and etiology of congenital muscular dystrophy: we are halfway there;O'Grady;Ann Neurol,2016

3. Exome sequences versus sequential gene testing in the UK highly specialised service for limb girdle muscular dystrophy;Harris;Orphanet J Rare Dis,2017

4. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned;Ghaoui;JAMA Neurol,2015

5. Integrative omics for health and disease;Karczewski;Nat Rev Genet,2018

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