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Myofibrillar myopathies
scientific article 2011
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instance of
scholarly article
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review article
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stated in
Europe PubMed Central
title
Myofibrillar myopathies
(English)
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author name string
Duygu Selcen
series ordinal
1
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language of work or name
English
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publication date
March 2011
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published in
Neuromuscular Disorders
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volume
21
0 references
issue
3
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page(s)
161-71
0 references
cites work
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient
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Zaspopathy in a large classic late-onset distal myopathy family
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Myotilinopathy in a family with late onset myopathy
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A mutation in myotilin causes spheroid body myopathy
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Mutations in ZASP define a novel form of muscular dystrophy in humans
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20 March 2017
Mutations in myotilin cause myofibrillar myopathy
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PubMed Central
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20 March 2017
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
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20 March 2017
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
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PubMed Central
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20 March 2017
myotilin Mutation found in second pedigree with LGMD1A
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PubMed Central
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20 March 2017
Mechanism and role of PDZ domains in signaling complex assembly
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20 March 2017
Molecular chaperone targeting and regulation by BAG family proteins
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20 March 2017
The anti-apoptotic protein BAG-3 is overexpressed in pancreatic cancer and induced by heat stress in pancreatic cancer cell lines
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Structural and functional aspects of filamins
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Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin
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20 March 2017
Myotilin is mutated in limb girdle muscular dystrophy 1A
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PubMed Central
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20 March 2017
Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation
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PubMed Central
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20 March 2017
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736
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20 March 2017
ZASP: a new Z-band alternatively spliced PDZ-motif protein
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PubMed Central
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20 March 2017
Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C
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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=3052736
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20 March 2017
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
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PubMed Central
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20 March 2017
A dysfunctional desmin mutation in a patient with severe generalized myopathy
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PubMed Central
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20 March 2017
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
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PubMed Central
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20 March 2017
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
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20 March 2017
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients
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20 March 2017
BAG3 deficiency results in fulminant myopathy and early lethality
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20 March 2017
Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
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PubMed Central
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20 March 2017
Intermediate filaments: structure, dynamics, function, and disease
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7 April 2017
Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy
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29 September 2017
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
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PubMed Central
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29 September 2017
DNAJB2 expression in normal and diseased human and mouse skeletal muscle
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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=3052736
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29 September 2017
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin
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=3052736
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29 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=3052736
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29 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=3052736
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29 September 2017
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
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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=3052736
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29 September 2017
HspB8 chaperone activity toward poly(Q)-containing proteins depends on its association with Bag3, a stimulator of macroautophagy.
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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=3052736
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29 September 2017
Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy
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=3052736
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29 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=3052736
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29 September 2017
The ZASP-like motif in actinin-associated LIM protein is required for interaction with the alpha-actinin rod and for targeting to the muscle Z-line
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=3052736
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29 September 2017
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.
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=3052736
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29 September 2017
What's in the 'BAG'?--A functional domain analysis of the BAG-family proteins.
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=3052736
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29 September 2017
Alpha-crystallin-type heat shock proteins: socializing minichaperones in the context of a multichaperone network.
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PubMed Central
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29 September 2017
Oracle, a novel PDZ-LIM domain protein expressed in heart and skeletal muscle
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736
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29 September 2017
Intermediate filaments and their associates: multi-talented structural elements specifying cytoarchitecture and cytodynamics
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29 September 2017
Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function
1 reference
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PubMed Central
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29 September 2017
Alpha-crystallin as a molecular chaperone
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736
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29 September 2017
ATP-enhanced molecular chaperone functions of the small heat shock protein human alphaB crystallin
1 reference
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3052736
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29 September 2017
Chaperone activity of alpha B-crystallin suppresses tubulin aggregation through complex formation.
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=3052736
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29 September 2017
Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments
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=3052736
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29 September 2017
BAG3 protein regulates stress-induced apoptosis in normal and neoplastic leukocytes
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=3052736
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2 June 2018
The small heat-shock protein, alphaB-crystallin, has a variable quaternary structure
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=3052736
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2 June 2018
AlphaB-crystallin interacts with intermediate filaments in response to stress
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=3052736
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2 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=3052736
retrieved
27 November 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=3052736
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27 November 2018
TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies.
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=3052736
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27 November 2018
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
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=3052736
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27 November 2018
Myotilinopathy: refining the clinical and myopathological phenotype.
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=3052736
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27 November 2018
Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis.
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=3052736
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27 November 2018
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.
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=3052736
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27 November 2018
Characterization and in vivo functional analysis of splice variants of cypher
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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=3052736
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27 November 2018
Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.
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=3052736
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27 November 2018
Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins
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=3052736
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27 November 2018
Late onset hereditary distal myopathy
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=3052736
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27 November 2018
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
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=3052736
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27 November 2018
Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/21256014
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Transient regulation of c-fos, alpha B-crystallin, and hsp70 in muscle during recovery from contractile activity
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21256014
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Oxidative Stress in Desminopathies and Myotilinopathies: A Link between Oxidative Damage and Abnormal Protein Aggregation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21256014
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21256014
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21256014
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.NMD.2010.12.007
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4867250
OpenCitations bibliographic resource ID
4867250
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4867250
PMCID
3052736
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4867250
PubMed ID
21256014
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
4867250
ResearchGate publication ID
49775348
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