Associated Papers
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
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.
Sano Y et al.
Internal Medicine (tokyo, Japan), 2022
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
Making sense of missense variants in TTN-related congenital myopathies.
Rees M et al.
Acta Neuropathologica, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf
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
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
Toro C et al.
Bmc Neurology, 2013
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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