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
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
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 a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.
Izumi R et al.
Journal of Human Genetics, 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
Select a paper to view details