Myofibrillar myopathies: new developments. (Q31135460)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23995273%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Myofibrillar myopathies: new developments (English)

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8 March 2020

1

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8 March 2020

author name string

Rudolf A Kley

series ordinal

2

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8 March 2020

Lev G Goldfarb

series ordinal

3

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publication date

1 October 2013

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Current Opinion in Neurology

8 March 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23995273%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

26

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8 March 2020

issue

5

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8 March 2020

page(s)

527-535

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Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

8 March 2020

cites work

1 reference

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Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

21 June 2018

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Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy

21 June 2018

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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

21 June 2018

1 reference

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Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy

21 June 2018

1 reference

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Desminopathies: pathology and mechanisms

21 June 2018

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A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients

21 June 2018

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21 June 2018

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy

21 June 2018

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Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

21 June 2018

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

21 June 2018

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Titin mutation segregates with hereditary myopathy with early respiratory failure

21 June 2018

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Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

21 June 2018

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Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

21 June 2018

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Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.

21 June 2018

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Protein aggregation in congenital myopathies

21 June 2018

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Reducing body myopathy and other FHL1-related muscular disorders.

21 June 2018

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Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy

21 June 2018

1 reference

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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

21 June 2018

1 reference

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A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts.

21 June 2018

1 reference

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Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations

21 June 2018

1 reference

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Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy

21 June 2018

1 reference

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Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: a comprehensive review of the clinical, histological and pathological features.

21 June 2018

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21 June 2018

Myofibrillar myopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

21 June 2018

1 reference

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Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy

21 June 2018

1 reference

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Myofibrillar myopathies: a clinical and myopathological guide.

21 June 2018

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Protein aggregate myopathies. Introduction

21 June 2018

1 reference

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Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient

21 June 2018

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Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.

21 June 2018

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Intermediate filament diseases: desminopathy.

21 June 2018

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy

21 June 2018

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Distinct muscle imaging patterns in myofibrillar myopathies.

21 June 2018

1 reference

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Molecular pathology of myofibrillar myopathies.

21 June 2018

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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

21 June 2018

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X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Zaspopathy in a large classic late-onset distal myopathy family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

The kinase domain of titin controls muscle gene expression and protein turnover

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Mutations in ZASP define a novel form of muscular dystrophy in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Mutations in myotilin cause myofibrillar myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Myotilin is mutated in limb girdle muscular dystrophy 1A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

A dysfunctional desmin mutation in a patient with severe generalized myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

21 June 2018

Reducing body myopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy (author's transl)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Hereditary myopathy with early respiratory failure: occurrence in various populations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

ZASPopathy with childhood-onset distal myopathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

In Vivo Characterization of Mutant Myotilins

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Myotilinopathy: refining the clinical and myopathological phenotype

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Myopathy with respiratory failure and typical myofibrillar lesions

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5127196

Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene

25 November 2018

1 reference

12 December 2020

A novel CRYAB mutation resulting in multisystemic disease

1 reference

12 December 2020

Biomechanical characterization of a desminopathy in primary human myoblasts

1 reference

12 December 2020

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

1 reference

12 December 2020

Adult onset reducing body myopathy

1 reference

12 December 2020

Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components

1 reference

12 December 2020

BAG3 mutations: another cause of giant axonal neuropathy

1 reference

12 December 2020

Novel FHL1 mutation in a family with reducing body myopathy

1 reference

12 December 2020

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

1 reference

12 December 2020

10.1097/WCO.0B013E328364D6B1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23995273%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23995273%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

PubMed publication ID

23995273

1 reference