Myosinopathies: pathology and mechanisms

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

New phenotype and pathology features in MYH7-related distal myopathy

(2012) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

Differences in Fibre Type Composition Between Human Masseter and Biceps Muscles in Young and Adults Reveal Unique Masseter Fibre Type Growth Pattern

(2011) Catharina Österlund et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Intracellular protein degradation: From a vague idea thru the lysosome and the ubiquitin–proteasome system and onto human diseases and drug targeting

(2011) Aaron Ciechanover   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

(2011) Carlo L. Balduini et al.   BRITISH JOURNAL OF HAEMATOLOGY

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

(2011) N Muelas et al.   CLINICAL GENETICS

Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb

(2011) Ramakrishna Kurapati et al.   HUMAN MOLECULAR GENETICS

Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1

(2011) David M Alvarado et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Effects of Pathogenic Proline Mutations on Myosin Assembly

(2011) Massimo Buvoli et al.   JOURNAL OF MOLECULAR BIOLOGY

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

(2011) Odile Dubourg et al.   JOURNAL OF NEUROLOGY

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

(2011) Saida Ortolano et al.   NEUROMUSCULAR DISORDERS

Scoliosis surgery in a patient with “de novo” myosin storage myopathy

(2011) Xenia Stalpers et al.   NEUROMUSCULAR DISORDERS

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

(2011) Houman Homayoun et al.   NEUROMUSCULAR DISORDERS

Renal manifestations of patients with MYH9-related disorders

(2011) Kyoung Hee Han et al.   PEDIATRIC NEPHROLOGY

Sporadic inclusion-body myositis: Conformational multifactorial ageing-related degenerative muscle disease associated with proteasomal and lysosomal inhibition, endoplasmic reticulum stress, and accumulation of amyloid-β42 oligomers and phosphorylated tau

(2011) Valerie Askanas et al.   PRESSE MEDICALE

Fibre types in skeletal muscle: a personal account

(2010) S. Schiaffino   Acta Physiologica

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations

(2010) Homa Tajsharghi et al.   BRAIN

Myosinspeichermyopathie: eine seltene Unterform der Proteinaggregationsmyopathien

(2010) I. Kiphuth et al.   FORTSCHRITTE DER NEUROLOGIE PSYCHIATRIE

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

(2010) N. Muelas et al.   NEUROLOGY

In sporadic inclusion body myositis muscle fibres TDP-43-positive inclusions are less frequent and robust than p62 inclusions, and are not associated with paired helical filaments

(2010) C. D'Agostino et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis

(2009) Anna Nogalska et al.   ACTA NEUROPATHOLOGICA

Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes

(2009) Thomas Z. Armel et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

(2009) Emmanuelle Uro-Coste et al.   NEUROMUSCULAR DISORDERS

165th ENMC International Workshop: Distal myopathies 6–8th February 2009 Naarden, The Netherlands

(2009) B. Udd   NEUROMUSCULAR DISORDERS

Mutations in the  -myosin rod cause myosin storage myopathy via multiple mechanisms

(2009) T. Z. Armel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally

(2008) Homa Tajsharghi et al.   ARCHIVES OF NEUROLOGY