• Acupuncture at Sanjian (LI 3) for perimyotenositis of extensor of radial aspect
• Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations
• Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype
• Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent
• Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network
• Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains
• Congenital myopathies in the new millennium
• Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies
• Diagnostic impact of myotonic discharges in myofibrillar myopathies
• Different early pathogenesis in myotilinopathy compared to primary desminopathy
• Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
• Distinct muscle imaging patterns in myofibrillar myopathies
• Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
• Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies
• Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
• Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy
• Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
• In vivo characterization of mutant myotilins
• Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol
• Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the <em>MYOT</em> Variant c.179C&gt;T
• Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T
• Mutations in myotilin cause myofibrillar myopathy
• Myofibrillar and distal myopathies
• Myofibrillar Myopathy – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
• Myotilinopathy in a family with late onset myopathy
• Myotilinopathy unmasked by statin treatment: A case report
• Myotilinopathy: refining the clinical and myopathological phenotype
• New aspects of myofibrillar myopathies
• New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses
• Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation
• Protein aggregation in congenital myopathies
• Significance of Asymptomatic Hyper Creatine-Kinase Emia
• TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies
• Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy
• Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function