X-linked myopathy with excessive autophagy: a failure of self-eating (Q28114940)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

review article

1 reference

title

X-linked myopathy with excessive autophagy: a failure of self-eating (English)

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

X-linked myopathy with excessive autophagy

29 February 2020

main subject

0 references

Vacuolar ATPase assembly factor VMA21

1 reference

vacuolar proton-transporting V-type ATPase complex assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Hannu Kalimo

series ordinal

3

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

James J Dowling

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Berge A Minassian

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

3 February 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

published in

Acta Neuropathologica

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

129

2 references

3 January 2017

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29 February 2020

page(s)

383-390

1 reference

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29 February 2020

issue

3

2 references

3 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00401-015-1393-4

29 February 2020

exact match

0 references

cites work

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

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Late adult-onset of X-linked myopathy with excessive autophagy

21 January 2018

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Autophagy in neuronal cells: general principles and physiological and pathological functions

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Autophagy as a new therapeutic target in Duchenne muscular dystrophy

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Danon disease: a phenotypic expression of LAMP-2 deficiency

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Following autophagy step by step

21 January 2018

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Autophagic vacuolar myopathy in twin girls

21 January 2018

1 reference

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Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells.

21 January 2018

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

21 January 2018

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Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy

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The mechanism and physiological function of macroautophagy.

21 January 2018

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

21 January 2018

1 reference

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Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy

21 January 2018

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

21 January 2018

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Autophagy is required to maintain muscle mass.

21 January 2018

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201st ENMC International Workshop: Autophagy in muscular dystrophies--translational approach, 1-3 November 2013, Bussum, The Netherlands.

21 January 2018

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Lysosomal acidification mechanisms

21 January 2018

1 reference

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Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.

21 January 2018

1 reference

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Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease

21 January 2018

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Autophagic vacuolar myopathy.

21 January 2018

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An overview of autophagy: morphology, mechanism, and regulation

21 January 2018

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The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

21 January 2018

1 reference

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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

21 January 2018

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Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy.

21 January 2018

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Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

21 January 2018

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Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies

21 January 2018

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Autophagosome formation: core machinery and adaptations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00401-015-1393-4

A new congenital form of X-linked autophagic vacuolar myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1393-4

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1393-4

10.1007/S00401-015-1393-4

21 January 2018

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

3375521

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25644398%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 February 2020

1052400713

0 references

3375521

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

3375521