(Q33916484)

30 July 2017

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

1 reference

30 July 2017

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Mora M

7

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Michio Hirano

1 reference

ORCID Public Data File 2021

author name string

Nishino I

1

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30 July 2017

Fu J

2

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30 July 2017

Tanji K

3

1 reference

30 July 2017

Yamada T

4

1 reference

30 July 2017

Shimojo S

5

1 reference

30 July 2017

Koori T

6

1 reference

30 July 2017

Riggs JE

8

1 reference

30 July 2017

Oh SJ

9

1 reference

30 July 2017

Koga Y

10

1 reference

30 July 2017

Sue CM

11

1 reference

30 July 2017

Yamamoto A

12

1 reference

30 July 2017

Murakami N

13

1 reference

30 July 2017

Shanske S

14

1 reference

30 July 2017

Byrne E

15

1 reference

30 July 2017

Bonilla E

16

1 reference

30 July 2017

Nonaka I

17

1 reference

30 July 2017

DiMauro S

18

1 reference

30 July 2017

Hirano M

19

1 reference

30 July 2017

language of work or name

English

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publication date

1 August 2000

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30 July 2017

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30 July 2017

406

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30 July 2017

906-910

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30 July 2017

6798

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https://scigraph.springernature.com/pub.10.1038/35022604

30 July 2017

0 references

cites work

Lysosomal glycogen storage disease with normal acid maltase

1 reference

7 January 2021

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

1 reference

7 January 2021

Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy

1 reference

7 January 2021

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

1 reference

7 January 2021

An alternatively spliced form of the human lysosome-associated membrane protein-2 gene is expressed in a tissue-specific manner

1 reference

7 January 2021

The rapidly evolving Pem homeobox gene and Agtr2, Ant2, and Lamp2 are closely linked in the proximal region of the mouse X chromosome

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Elevated levels of complement components C5 and C9 and decreased antitrypsin activity in the serum of patients with X-linked vacuolated myopathy

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Cell surface expression of lysosome-associated membrane protein-2 (lamp2) and CD63 as markers of in vivo platelet activation in malignancy

1 reference

7 January 2021

Lysosomes, a meeting point of proteins, chaperones, and proteases

1 reference

7 January 2021

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

1 reference

7 January 2021

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

1 reference

7 January 2021

Cerebral oxygen and glucose metabolism in glycogen storage disease with normal acid maltase: case report.

1 reference

7 January 2021

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

1 reference

7 January 2021

Lysosomal glycogen storage disease without acid maltase deficiency.

1 reference

7 January 2021

Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.

1 reference

7 January 2021

Identifiers

DOI

10.1038/35022604

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference