Associated Papers
Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.
Gómez-Andrés D et al.
European Journal of Neurology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Evaluation of aggrephagy markers in myofibrillar myopathies.
Iannibelli E et al.
Acta Neuropathologica Communications, 2025
Titinopathies: Phenotype - genotype heterogeneity in an Indian cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.
Eibach Y et al.
Science Advances, 2025
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
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
A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure.
Yeo Y et al.
Annals of Laboratory Medicine, 2021
Clinicopathological features of titinopathy from a Chinese neuromuscular center.
Huang K et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Making sense of missense variants in TTN-related congenital myopathies.
Rees M et al.
Acta Neuropathologica, 2021
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
McMacken G et al.
European Journal of Neurology, 2021
Panorama of the distal myopathies.
Savarese M et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?
Udd B
Current Opinion in Neurology, 2020
Titinopathy, an atypical respiratory failure.
Morais J et al.
Bmj Case Reports, 2020
[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure].
Aoki R et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M et al.
Journal of Neuromuscular Diseases, 2020
Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
Luo YB et al.
Frontiers in Neurology, 2020
Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
Luo YB et al.
Frontiers in Neurology, 2020
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
Palmio J et al.
Journal of Neurology, 2019
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E et al.
Frontiers in Neurology, 2018
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.
Steele HE et al.
Neurology, 2016
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.
Sevy A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
The Rapidly Evolving Role of Titin in Cardiac Physiology and Cardiomyopathy.
Gerull B
The Canadian Journal of Cardiology, 2015
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
A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.
Pfeffer G et al.
Neuromuscular Disorders : Nmd, 2014
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
[A family with autosomal dominant hereditary myoedema, muscular irritability, stiffness and hypertrophy].
Murayama T et al.
Rinsho Shinkeigaku = Clinical Neurology, 1991
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0