Associated Papers
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
Sian V et al.
European Journal of Neurology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 2024
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.
Lillback V et al.
European Journal of Neurology, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
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 correlations in recessive titinopathies.
Savarese M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
Savarese M et al.
Journal of Neuromuscular Diseases, 2020
TITINdb-a computational tool to assess titin's role as a disease gene.
Laddach A et al.
Bioinformatics (oxford, England), 2017
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
Evilä A et al.
Molecular Neurobiology, 2017
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E et al.
Orphanet Journal of Rare Diseases, 2017
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Charton K et al.
Human Molecular Genetics, 2015
The sarcomeric M-region: a molecular command center for diverse cellular processes.
Hu LY et al.
Biomed Research International, 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
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Hackman P et al.
Neuromuscular Disorders : Nmd, 2008
A novel TTN variant in a patient with distal myopathy of lower limbs and dilated cardiomyopathy.
Lopez-Bravo A et al.
Neurologia, 0
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0