Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings-Reference-Cited by-同舟云学术

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Published:2018-03-05 Issue: Volume:9 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Todd Joshua J.,Razaqyar Muslima S.,Witherspoon Jessica W.,Lawal Tokunbor A.,Mankodi Ami,Chrismer Irene C.,Allen Carolyn,Meyer Mary D.,Kuo Anna,Shelton Monique S.,Amburgey Kim,Niyazov Dmitriy,Fequiere Pierre,Bönnemann Carsten G.,Dowling James J.,Meilleur Katherine G.

Funder

NIH Clinical Center

National Institutes of Health

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference57 articles.

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

2. Congenital myopathies;D’Amico;Curr Neurol Neurosci Rep,2008

3. Review of RyR1 pathway and associated pathomechanisms;Witherspoon;Acta Neuropathol Commun,2016

4. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene;Phillips;Genomics,1996

5. Structure of a mammalian ryanodine receptor;Zalk;Nature,2015

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India;Journal of Neuromuscular Diseases;2024-09-03

2. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies;Genes;2023-01-23

3. Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms;Genes;2022-04-26

4. Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d‐transposition of the great arteries;Molecular Genetics & Genomic Medicine;2021-09-16

5. Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI;Journal of Neuromuscular Diseases;2021-07-30