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
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 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
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E et al.
Frontiers in Neurology, 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
Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE et al.
Neuromuscular Disorders : Nmd, 2016
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
Novel recessive myotilin mutation causes severe myofibrillar myopathy.
Schessl J et al.
Neurogenetics, 2014
In vivo characterization of mutant myotilins.
Keduka E et al.
The American Journal of Pathology, 2012
Myotilin dynamics in cardiac and skeletal muscle cells.
Wang J et al.
Cytoskeleton (hoboken, N.j.), 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
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
Genetics and pathogenesis of distal muscular dystrophies.
Udd B
Advances in Experimental Medicine and Biology, 2009
Molecular pathology of myofibrillar myopathies.
Ferrer I et al.
Expert Reviews in Molecular Medicine, 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
Different early pathogenesis in myotilinopathy compared to primary desminopathy.
Fischer D et al.
Neuromuscular Disorders : Nmd, 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
[Myofibrillar myopathies: another complex myopathic syndrome].
Olivé M et al.
Neurologia (barcelona, Spain), 2001