Associated Papers
Myofibrillar myopathy: towards a mechanism-based definition as a Z-disk-opathy.
Inoue M et al.
Current Opinion in Neurology, 2025
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Evaluation of aggrephagy markers in myofibrillar myopathies.
Iannibelli E et al.
Acta Neuropathologica Communications, 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
Myotilin gene duplication causing late-onset myotilinopathy.
Spinazzi M et al.
European Journal of Neurology, 2025
Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.
Ros-Arlanzón P et al.
Revista De Neurologia, 2024
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
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Frezatti RSS et al.
Brain Communications, 2024
Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson's Disease.
Petry-Schmelzer JN et al.
Neurological Research and Practice, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 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
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.
Krenn M et al.
European Journal of Neurology, 2020
Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T.
Finsterer J et al.
Case Reports in Cardiology, 2020
Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A et al.
Neurology. Genetics, 2019
Clinical Phenotype and Genotype Associations With Improvement in Left Ventricular Function in Dilated Cardiomyopathy.
Verdonschot JAJ et al.
Circulation. Heart Failure, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
Unger A et al.
Acta Neuropathologica Communications, 2017
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.
Rudolf G et al.
Journal of Neuromuscular Diseases, 2016
New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.
Maerkens A et al.
Acta Neuropathologica Communications, 2016
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A et al.
Revue Neurologique, 2015
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Schessl J et al.
Neurogenetics, 2014
Myotilin dynamics in cardiac and skeletal muscle cells.
Wang J et al.
Cytoskeleton (hoboken, N.j.), 2011
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
Shalaby S et al.
Journal of Neuropathology and Experimental Neurology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Claeys KG et al.
Acta Neuropathologica, 2009
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
Gamez J et al.
Journal of the Neurological Sciences, 2009
Lower limb radiology of distal myopathy due to the S60F myotilin mutation.
McNeill A et al.
European Neurology, 2009
Molecular pathology of myofibrillar myopathies.
Ferrer I et al.
Expert Reviews in Molecular Medicine, 2008
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
Claeys KG et al.
Neuromuscular Disorders : Nmd, 2008
156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands.
Goebel HH et al.
Neuromuscular Disorders : Nmd, 2008
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies.
Olivé M et al.
Neuropathology and Applied Neurobiology, 2008
The Z-disk diseases.
Selcen D et al.
Advances in Experimental Medicine and Biology, 2008
Molecular biology of distal muscular dystrophies--sarcomeric proteins on top.
Udd B
Biochimica Et Biophysica Acta, 2007
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
Garvey SM et al.
Human Molecular Genetics, 2006
Myotilinopathy in a family with late onset myopathy.
Pénisson-Besnier I et al.
Neuromuscular Disorders : Nmd, 2006
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
Fischer D et al.
Neuromuscular Disorders : Nmd, 2006
Myotilinopathy: refining the clinical and myopathological phenotype.
Olivé M et al.
Brain : a Journal of Neurology, 2005
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
Gontier Y et al.
Journal of Cell Science, 2005
[Myofibrillar myopathies: another complex myopathic syndrome].
Olivé M et al.
Neurologia (barcelona, Spain), 2001