Associated Papers
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Hildebrandt C et al.
Neurology. Genetics, 2025
40661861 (PubMed )
Supplement: Supplements.pdf
Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.
Seaborne RAE et al.
The Journal of Physiology, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity
VIPpred: a novel model for predicting variant impact on phosphorylation events driving carcinogenesis.
Xu X et al.
Briefings in Bioinformatics, 2023
38156562 (PubMed )
Supplement: supplementary_table_1-3_bbad480.zip › Supplementary_Table_1-3_bbad480.7z › Supplementary_Table_1-3 › Supplementary_Table_3.xlsx › annotated_VIP_events
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Moreno CAM et al.
Pediatric Neurology, 2017
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
Laing NG et al.
Human Mutation, 2009
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