Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy (Q34902969)

5 August 2017

Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathy (English)

1 reference

5 August 2017

1 reference

Marc R Del Bigio

1

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Albert E Chudley

2

object named as

Albert E Chudley

1 reference

5 August 2017

Harvey B Sarnat

3

1 reference

5 August 2017

Craig Campbell

4

1 reference

5 August 2017

Sharan Goobie

5

1 reference

5 August 2017

Bernard N Chodirker

6

1 reference

5 August 2017

Duygu Selcen

7

1 reference

5 August 2017

18 February 2011

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5 August 2017

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5 August 2017

69

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5 August 2017

5

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5 August 2017

866-871

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Alterations of protein turnover underlying disuse atrophy in human skeletal muscle.

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Mechanism of suppression of protein aggregation by α-crystallin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

alpha-crystallin: a review of its structure and function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Mutations in myotilin cause myofibrillar myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

AlphaB-crystallin in lens development and muscle integrity: a gene knockout approach

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Alpha B-crystallin in cardiac tissue. Association with actin and desmin filaments

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

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

8 July 2018

1 reference

Myotilinopathy: refining the clinical and myopathological phenotype

21 January 2018

1 reference

Comparison of the small heat shock proteins alphaB-crystallin, MKBP, HSP25, HSP20, and cvHSP in heart and skeletal muscle

21 January 2018

1 reference

Association of the chaperone alphaB-crystallin with titin in heart muscle.

21 January 2018

1 reference

Alpha-crystallin-incorporated collagen matrices as an aid for dermal wound healing

21 January 2018

1 reference

Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

Autosomal recessive, fatal infantile hypertonic muscular dystrophy among Canadian Natives

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3085857

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

26 October 2018

1 reference

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

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21337604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ischemia-induced increase of stiffness of alphaB-crystallin/HSPB2-deficient myocardium

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21337604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

alphaB-crystallin maintains skeletal muscle myosin enzymatic activity and prevents its aggregation under heat-shock stress

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21337604

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.22331

1 reference

5 August 2017

1 reference

5 August 2017

1 reference