Associated Papers
Mutational and clinical spectrum of myofibrillar myopathy in one center from China.
Wang Q et al.
Journal of Neuromuscular Diseases, 2024
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Cannone E et al.
International Journal of Molecular Sciences, 2023
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I et al.
Molecular Genetics and Metabolism Reports, 2020
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.
Puž V et al.
Scientific Reports, 2017
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S et al.
Journal of Neuromuscular Diseases, 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
RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.
Liu J et al.
Molecular Therapy. Nucleic Acids, 2014
RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.
Liu J et al.
Current Gene Therapy, 2012
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
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
Genetic defects in muscular dystrophy.
Chandrasekharan K et al.
Methods in Enzymology, 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
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
Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin.
Ochala J et al.
Upsala Journal of Medical Sciences, 2009
Molecular pathology of myofibrillar myopathies.
Ferrer I et al.
Expert Reviews in Molecular Medicine, 2008
Myotilin overexpression enhances myopathology in the LGMD1A mouse model.
Garvey SM et al.
Muscle & Nerve, 2008
The Z-disk diseases.
Selcen D et al.
Advances in Experimental Medicine and Biology, 2008
Ins and outs of therapy in limb girdle muscular dystrophies.
Danièle N et al.
The International Journal of Biochemistry & Cell Biology, 2007
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM.
Garvey SM et al.
Human Molecular Genetics, 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
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
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Hauser MA et al.
Human Molecular Genetics, 2000
[Chronic hyperthyroid myopathy. A contribution to the differential diagnosis of myopathic limb-girdle syndrome].
Huppert D et al.
Der Nervenarzt, 1991
[On a congenital distal muscular dystrophy with a benign course].
Heyck H et al.
Der Nervenarzt, 1968
[Generalized muscular hypoplasia and muscular atony after icterus neonatorum; a rare case of posticteric infantile encephalomyelopathy].
BROSER F
Der Nervenarzt, 1957
[Casuistic report on a tribe with dominantly hereditary, possibly female sex-linked progressive muscular dystrophy of shoulder-girdle type].
HERTRICH O
Der Nervenarzt, 1957