Late adult-onset of X-linked myopathy with excessive autophagy (Q36108565)

12 August 2017

Late adult-onset of X-linked myopathy with excessive autophagy (English)

1 reference

X-linked myopathy with excessive autophagy

12 August 2017

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author

Cameron D Crockett

1

1 reference

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3 June 2020

Alessandra Ruggieri

2

1 reference

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3 June 2020

Steven A Moore

7

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3 June 2020

author name string

Meena Gujrati

3

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3 June 2020

Christopher M Zallek

4

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3 June 2020

Nivetha Ramachandran

5

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3 June 2020

Berge A Minassian

6

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3 June 2020

publication date

17 May 2014

1 reference

12 August 2017

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3 June 2020

volume

50

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3 June 2020

page(s)

138-144

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3 June 2020

issue

1

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Autophagy in human health and disease

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Autophagy as a stress-response and quality-control mechanism: implications for cell injury and human disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Autophagy in lysosomal myopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Autophagic vacuolar myopathy.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Clinicopathological features of genetically confirmed Danon disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

X-linked myopathy with excessive autophagy: a new hereditary muscle disease

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4589296

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.

27 July 2018

1 reference

X-linked myopathy with excessive autophagy: a clinicopathological study of five new families

21 January 2018

1 reference

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.

21 January 2018

1 reference

A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement

21 January 2018

1 reference

LAMP-2 Positive Vacuolar Myopathy with Dilated Cardiomyopathy

21 January 2018

1 reference

X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers

21 January 2018

1 reference

12 December 2020

X-linked vacuolated myopathy: membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma

1 reference

12 December 2020

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

1 reference

12 December 2020

X-linked vacuolar myopathies: Two separate loci and refined genetic mapping

1 reference

12 December 2020

Fine-mapping the gene for X-linked myopathy with excessive autophagy

1 reference

12 December 2020

Identifiers

DOI

10.1002/MUS.24197

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24488655%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24488655%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference