Associated Papers
Hereditary Myopathy With Early Respiratory Failure Associated With an Incidental COL4A5 Variant: A Case Report.
Abu Nahla U et al.
Case Reports in Genetics, 2026
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
40270927 (PubMed )
Supplement: vbaf062_supplementary_data.docx
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
Clinical, pathological, and molecular genetic analysis of 7 Chinese patients with hereditary myopathy with early respiratory failure.
Lv X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J et al.
Journal of Neurology, 2019
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
Uruha A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
A rising titan: TTN review and mutation update.
Chauveau C et al.
Human Mutation, 2014
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0
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