Myosinopathies: pathology and mechanisms (Q38037315)

27 August 2017

1 reference

11 December 2019

Myosinopathies: pathology and mechanisms (English)

1 reference

27 August 2017

1 reference

11 December 2019

1 reference

1 reference

11 December 2019

Homa Tajsharghi

1

1 reference

27 August 2017

Anders Oldfors

series ordinal

2

1 reference

27 August 2017

5 August 2012

1 reference

27 August 2017

1 January 2013

5 references

13 March 2019

25 April 2019

28 September 2019

16 November 2019

11 December 2019

Acta Neuropathologica

6 references

27 August 2017

13 March 2019

25 April 2019

28 September 2019

16 November 2019

11 December 2019

125

1 reference

27 August 2017

1

1 reference

27 August 2017

3-18

1 reference

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

27 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Effects of pathogenic proline mutations on myosin assembly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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 phosphorylat

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Renal manifestations of patients with MYH9-related disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Fibre types in skeletal muscle: a personal account

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

6 September 2017

Thick filament diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Inclusion body myositis: current pathogenetic concepts and diagnostic and therapeutic approaches

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Hereditary myosin myopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Mutation in myosin heavy chain 6 causes atrial septal defect

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Dynamics of actomyosin interactions in relation to the cross-bridge cycle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Mutation of perinatal myosin heavy chain associated with a Carney complex variant

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Abundant expression of myosin heavy-chain IIB RNA in a subset of human masseter muscle fibres

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Inactivation of myosin heavy chain genes in the mouse: diverse and unexpected phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosins: a diverse superfamily

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Organization of human and mouse skeletal myosin heavy chain gene clusters is highly conserved

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosin heavy chains IIa and IId are functionally distinct in the mouse

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Growth and muscle defects in mice lacking adult myosin heavy chain genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

A revised and extended classification of the distal arthrogryposes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Structure-function studies of the myosin motor domain: importance of the 50-kDa cleft

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Structure of the actin-myosin complex and its implications for muscle contraction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosin isoforms in mammalian skeletal muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Autosomal dominant distal myopathy: linkage to chromosome 14.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Expression and DNA sequence analysis of a human embryonic skeletal muscle myosin heavy chain gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Department of Neurology, Northwestern University Medical School, Chicago, Illinois

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Human extraocular muscles: unique pattern of myosin heavy chain expression during myotube formation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Structure-function analysis of the motor domain of myosin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

The mammalian myosin heavy chain gene family

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

A 29 residue region of the sarcomeric myosin rod is necessary for filament formation.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosin storage (hyaline body) myopathy: a case report.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

The effects of endurance training in persons with a hereditary myosin myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Induced shift in myosin heavy chain expression in myosin myopathy by endurance training

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

New phenotype and pathology features in MYH7-related distal myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535372

Familial myopathy with probable lysis of myofibrils in type I fibers

1 October 2018

1 reference

12 December 2020

Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy

1 reference

12 December 2020

Hyaline body myopathy

1 reference

12 December 2020

Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology

1 reference

12 December 2020

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

1 reference

12 December 2020

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7

1 reference

12 December 2020

Acute quadriplegic myopathy: an acquired "myosinopathy"

1 reference

12 December 2020

Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Differences in fibre type composition between human masseter and biceps muscles in young and adults reveal unique masseter fibre type growth pattern

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred

1 reference

12 December 2020

[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]

1 reference

12 December 2020

Early onset chromosome 14-linked distal myopathy (Laing)

1 reference

12 December 2020

Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings

1 reference

12 December 2020

10.1007/S00401-012-1024-2

Identifiers

DOI

1 reference

Dimensions Publication ID

27 August 2017

0 references

1 reference

27 August 2017

PubMed publication ID

22918376

1 reference