Neuromuscular disorders: finding the missing genetic diagnoses-Reference-Cited by-同舟云学术

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Neuromuscular disorders: finding the missing genetic diagnoses

Published:2022-09 Issue:9 Volume:38 Page:956-971
ISSN:0168-9525
Container-title:Trends in Genetics
language:en
Short-container-title:Trends in Genetics

Author:

Koczwara Katherine E.,Lake Nicole J.,DeSimone Alec M.,Lek Monkol^ORCID

Publisher

Elsevier BV

Subject

Genetics

Reference173 articles.

1. Genetics of neuromuscular disorders;Laing;Crit. Rev. Clin. Lab. Sci.,2012

2. The 2022 version of the gene table of neuromuscular disorders (nuclear genome);Cohen;Neuromuscul. Disord.,2021

3. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing;Sevy;J. Neurol. Neurosurg. Psychiatr.,2016

4. The increasing impact of translational research in the molecular diagnostics of neuromuscular diseases;Yubero;Int. J. Mol. Sci.,2021

5. Limitations of exome sequencing in detecting rare and undiagnosed diseases;Burdick;Am. J. Med. Genet. A,2020

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1. Pathophysiological role of connexin and pannexin hemichannels in neuromuscular disorders;The Journal of Physiology;2024-08-22

2. MRI for the diagnosis of limb girdle muscular dystrophies;Current Opinion in Neurology;2024-08-12

3. Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy;American Journal of Medical Genetics Part A;2024-06-24

4. Gene Therapy Advances Are a Game Changer for Some Neuromuscular Disorders;Neurology Today;2024-02-15

5. Editorial: Implementing new technologies for neuromuscular disorders;Frontiers in Neurology;2024-02-05

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