(Q42493936)

1 November 2017

title

Autophagic vacuolar myopathy in twin girls (English)

1 reference

Autophagic vacuolar myopathy

1 November 2017

0 references

1 reference

Holton JL

1

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1 November 2017

Beesley C

2

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1 November 2017

Jackson M

3

1 reference

1 November 2017

Venner K

4

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1 November 2017

Bhardwaj N

5

1 reference

1 November 2017

Winchester B

6

1 reference

1 November 2017

Al-Memar A

7

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1 November 2017

publication date

1 June 2006

1 reference

Neuropathology and Applied Neurobiology

1 November 2017

published in

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1 November 2017

volume

32

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1 November 2017

issue

3

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1 November 2017

page(s)

253-259

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The spectrum and diagnosis of acid maltase deficiency.

1 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Lysosomal glycogen storage disease with normal acid maltase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Clinicopathological features of genetically confirmed Danon disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

Infantile autophagic vacuolar myopathy is distinct from Danon disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2006.00691.X

10.1111/J.1365-2990.2006.00691.X

21 January 2018

Identifiers

DOI

1 reference

1 November 2017

1 reference