Associated Papers
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.
Gómez-Andrés D et al.
European Journal of Neurology, 2025
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
Mutational and clinical spectrum of myofibrillar myopathy in one center from China.
Wang Q et al.
Journal of Neuromuscular Diseases, 2024
Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.
Alhammad RM et al.
Bmc Neurology, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
TTN-related hereditary myopathy with early respiratory failure presented with elevated hemoglobin initially: A case report and literature review.
Liang H et al.
Heliyon, 2024
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
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
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M et al.
Journal of Neuromuscular Diseases, 2020
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.
Ávila-Polo R et al.
Journal of Neuropathology and Experimental Neurology, 2018
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Cerino M et al.
Muscle & Nerve, 2017
Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.
Yehia L et al.
Npj Genomic Medicine, 2017
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
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
Yue D et al.
Neuromuscular Disorders : Nmd, 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