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Myofibrillar myopathies
scientific article published on October 2008
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
review article
1 reference
stated in
Europe PubMed Central
title
Myofibrillar myopathies
(English)
1 reference
stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
author name string
Duygu Selcen
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
publication date
1 October 2008
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stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
published in
Current Opinion in Neurology
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stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
volume
21
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stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
issue
5
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Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
page(s)
585-589
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Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
cites work
DNAJB2 expression in normal and diseased human and mouse skeletal muscle
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
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PubMed Central
reference URL
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retrieved
6 September 2017
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Zasp is required for the assembly of functional integrin adhesion sites
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
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6 September 2017
Zaspopathy in a large classic late-onset distal myopathy family
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
BAG3 deficiency results in fulminant myopathy and early lethality
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Myotilinopathy in a family with late onset myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
A mutation in myotilin causes spheroid body myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Mutations in ZASP define a novel form of muscular dystrophy in humans
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Mutations in myotilin cause myofibrillar myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
myotilin Mutation found in second pedigree with LGMD1A
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
What's in the 'BAG'?--A functional domain analysis of the BAG-family proteins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Molecular chaperone targeting and regulation by BAG family proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
The anti-apoptotic protein BAG-3 is overexpressed in pancreatic cancer and induced by heat stress in pancreatic cancer cell lines
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Myotilin is mutated in limb girdle muscular dystrophy 1A
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
6 September 2017
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
14 September 2017
HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
14 September 2017
BAG3 protein regulates stress-induced apoptosis in normal and neoplastic leukocytes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
26 June 2018
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Consequences of mutations within the C terminus of the FHL1 gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Post-transcriptional silencing of the Drosophila homolog of human ZASP: a molecular and functional analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Myotilinopathy: refining the clinical and myopathological phenotype
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 September 2018
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 December 2018
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4151125
retrieved
3 December 2018
Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18769253
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Late onset hereditary distal myopathy
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18769253
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/18769253
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1097/WCO.0B013E32830A752B
1 reference
stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
PMCID
4151125
1 reference
stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
PubMed ID
18769253
1 reference
stated in
Europe PubMed Central
PMCID
4151125
retrieved
19 August 2017
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