(Q26999433)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

review article

1 reference

title

Danon disease: clinical features, evaluation, and management (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

7

Luisa Mestroni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Cecilia Levandowski

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Dobromir Slavov

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Sharon L Graw

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Larry A Allen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Eric Adler

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Matthew R G Taylor

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

1 reference

1 September 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

Circulation: Heart Failure

16 February 2020

published in

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

7

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

5

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

843-849

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

A receptor for the selective uptake and degradation of proteins by lysosomes

16 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Unique properties of lamp2a compared to other lamp2 isoforms

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Direct uptake and degradation of DNA by lysosomes

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Discovery of a novel type of autophagy targeting RNA

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Cone-rod dystrophy can be a manifestation of Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Sudden death associated with danon disease in women

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Functional performance and muscle strength phenotypes in men and women with Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

LAMP2 microdeletions in patients with Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Cardiovascular magnetic resonance findings in a case of Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Retinopathy in Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Autophagic vacuolar myopathy.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Ophthalmic manifestations of Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Clinicopathological features of genetically confirmed Danon disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Biogenesis of the lysosomal membrane.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Lysosomal glycogen storage disease with normal acid maltase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Lysosomal glycogen storage disease without acid maltase deficiency.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4169002

Extension of the clinical spectrum of Danon disease

28 November 2018

1 reference

12 December 2020

Psychosis in a patient with Danon cardiomyopathy

1 reference

12 December 2020

Natural history of Danon disease

1 reference

12 December 2020

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

1 reference

12 December 2020

Cone-rod dystrophy in Danon disease

1 reference

12 December 2020

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis

1 reference

12 December 2020

Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease

1 reference

12 December 2020

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

1 reference

12 December 2020

[A case of glycogen storage disease with normal acid maltase accompanied with the abnormal platelet function]

1 reference

12 December 2020

ELECTROCARDIOGRAPHIC ABNORMALITIES, CONDUCTION DISORDERS AND ARRHYTHMIAS IN PRIMARY MYOCARDIAL DISEASE

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1161/CIRCHEARTFAILURE.114.001105

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

25228319

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25228319%20AND%20SRC:MED&resulttype=core&format=json