Current and future therapeutic approaches to the congenital myopathies-Reference-Cited by-同舟云学术

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Current and future therapeutic approaches to the congenital myopathies

Published:2017-04 Issue: Volume:64 Page:191-200
ISSN:1084-9521
Container-title:Seminars in Cell & Developmental Biology
language:en
Short-container-title:Seminars in Cell & Developmental Biology

Author:

Jungbluth Heinz,Ochala Julien,Treves Susan,Gautel Mathias

Funder

Myotubular Trust, Great Britain

Medical Research Council NI Research

Swiss National Science Foundation

OPO Stiftung

Telethon Italy

Department of Anaesthesia Basel University Hospital

Leducq Foundation

MRC

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology

Reference127 articles.

1. Approach to the diagnosis of congenital myopathies;North;Neuromuscul. Disord: NMD,2013

2. Congenital myopathies?clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom;Maggi;Neuromuscul. Disord.: NMD,2013

3. Prevalence of congenital myopathies in a representative pediatric united states population;Amburgey;Ann. Neurol.,2011

4. Consensus statement on standard of care for congenital myopathies;Wang;J. Child Neurol.,2012

5. Core myopathies;Jungbluth;Semin. Pediatr. Neurol.,2011

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1. Congenital myopathies: pathophysiological mechanisms and promising therapies;Journal of Translational Medicine;2024-09-02

2. Early life lipid overload in Native American myopathy is phenocopied by stac3 knock out in zebrafish;2023-08-08

3. Early life lipid overload in Native American myopathy is phenocopied bystac3knock out in zebrafish;2023-07-29

4. Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies;Brain Communications;2022-09-01

5. The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications;Genes & Diseases;2021-09

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