(Q33954482)

30 July 2017

title

LAMP2 microdeletions in patients with Danon disease (English)

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30 July 2017

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12

Jeffrey A Towbin

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30 July 2017

Zhao Yang

1

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30 July 2017

Birgit H Funke

2

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30 July 2017

Linda H Cripe

3

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30 July 2017

G Wesley Vick

4

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30 July 2017

Debora Mancini-Dinardo

5

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30 July 2017

Liana S Peña

6

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30 July 2017

Ronald J Kanter

7

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30 July 2017

Brenda Wong

8

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30 July 2017

Brandy H Westerfield

9

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30 July 2017

Jaquelin J Varela

10

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30 July 2017

Yuxin Fan

11

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30 July 2017

Matteo Vatta

13

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30 July 2017

language of work or name

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20 February 2010

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Circulation: Cardiovascular Genetics

30 July 2017

published in

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30 July 2017

volume

3

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30 July 2017

issue

2

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30 July 2017

page(s)

129-137

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The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Cardiovascular magnetic resonance findings in a case of Danon disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Molecular mimicry in pauci-immune focal necrotizing glomerulonephritis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Danon disease as a cause of autophagic vacuolar myopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Premature ovarian failure in a patient with a complex chromosome rearrangement involving the critical region Xq24, characterized by analysis using fluorescence in situ hybridization by chromosome microdissection

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

The pathology of hypertrophic cardiomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Autophagic vacuolar myopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Hypertrophic cardiomyopathy: a systematic review

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Molecular genetics of hypertrophic cardiomyopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Lysosomal glycogen storage disease with normal acid maltase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Isolation and characterization of human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2. Major sialoglycoproteins carrying polylactosaminoglycan

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Danon disease: case report and detection of new mutation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Danon disease: further clinical and molecular heterogeneity.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Molecular analysis ofPRKAG2,LAMP2, andNKX2-5genes in a cohort of 125 patients with accessory atrioventricular connection

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Danon disease: A novel Lamp-2 gene mutation in a family with four affected members

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2895413

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

29 October 2018

1 reference

12 December 2020

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene

1 reference

12 December 2020

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

1 reference

12 December 2020

LAMP-2 Positive Vacuolar Myopathy with Dilated Cardiomyopathy

1 reference

12 December 2020

1 reference

12 December 2020

A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

1 reference

12 December 2020

10.1161/CIRCGENETICS.109.901785

Identifiers

DOI

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30 July 2017

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30 July 2017

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