Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes-Reference-Cited by-同舟云学术

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Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes

Published:2009-04 Issue:4 Volume:30 Page:E575-E590
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Zullo Alberto,Klingler Werner,De Sarno Claudia,Ferrara Marina,Fortunato Giuliana,Perrotta Giuseppa,Gravino Elvira,Di Noto Rosella,Lehmann-Horn Frank,Melzer Werner,Salvatore Francesco,Carsana Antonella

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 29 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. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study;Acta Neuropathologica Communications;2022-04-15

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

3. Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility;Genetics in Medicine;2021-07

4. Functional Characterization of Endogenously Expressed Human RYR1 Variants;Journal of Visualized Experiments;2021-06-09

5. Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance;Scientific Reports;2021-02-09

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