Associated Papers
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
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 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
[A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities].
Hamaguchi M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
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
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
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
Reilich P et al.
Journal of Neurology, 2011
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Olivé M et al.
Neuromuscular Disorders : Nmd, 2011
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
von Nandelstadh P et al.
The Biochemical Journal, 2011
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L et al.
The Neurologist, 2010
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
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
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
Berciano J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
Fischer D et al.
Neuromuscular Disorders : Nmd, 2006
Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
Garvey SM et al.
Annals of Human Genetics, 2006
Actin-organising properties of the muscular dystrophy protein myotilin.
von Nandelstadh P et al.
Experimental Cell Research, 2005
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
Myopathies resulting from mutations in sarcomeric proteins.
Bönnemann CG et al.
Current Opinion in Neurology, 2004
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
Salmikangas P et al.
Human Molecular Genetics, 2003
myotilin Mutation found in second pedigree with LGMD1A.
Hauser MA et al.
American Journal of Human Genetics, 2002
[Myofibrillar myopathies: another complex myopathic syndrome].
Olivé M et al.
Neurologia (barcelona, Spain), 2001