Associated Papers
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 2025
Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
Muelas N et al.
Journal of Neurology, 2025
Taking on the Titin: Muscle imaging as a diagnostic marker of biallelic TTN-related myopathy.
Hayes LH et al.
Journal of Neuromuscular Diseases, 2024
Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.
Li MW et al.
Prenatal Diagnosis, 2024
Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.
Wang G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.
Peddareddygari LR et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2021
Genotype-phenotype correlations in recessive titinopathies.
Savarese M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC et al.
Annals of Neurology, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseases.
Välipakka S et al.
Neurology. Genetics, 2017
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A et al.
Molecular Neurobiology, 2017
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
A rising titan: TTN review and mutation update.
Chauveau C et al.
Human Mutation, 2014