Literature DB >> 18413590

Extension of the clinical spectrum of Danon disease.

A J van der Kooi1, I M van Langen, E Aronica, P A van Doorn, J H J Wokke, E Brusse, C T Langerhorst, P Bergin, L R C Dekker, R H Lekanne dit Deprez, M de Visser.   

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Year:  2008        PMID： 18413590     DOI： 10.1212/01.wnl.0000309219.61785.b3

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

1.  Danon Disease Due to a Novel LAMP2 Microduplication.

Authors:  Matthew A Lines; Stacy Hewson; William Halliday; Peter J B Sabatini; Tracy Stockley; Anne I Dipchand; Sarah Bowdin; Komudi Siriwardena
Journal:  JIMD Rep       Date:  2013-11-13

Review 2.  Danon disease - dysregulation of autophagy in a multisystem disorder with cardiomyopathy.

Authors:  Teisha J Rowland; Mary E Sweet; Luisa Mestroni; Matthew R G Taylor
Journal:  J Cell Sci       Date:  2016-05-10       Impact factor: 5.285

Review 3.  Genetics and metabolic cardiomyopathies.

Authors:  E C Wicks; P M Elliott
Journal:  Herz       Date:  2012-09       Impact factor: 1.443

Review 4.  Danon disease: clinical features, evaluation, and management.

Authors:  Ryan S D'souza; Cecilia Levandowski; Dobromir Slavov; Sharon L Graw; Larry A Allen; Eric Adler; Luisa Mestroni; Matthew R G Taylor
Journal:  Circ Heart Fail       Date:  2014-09       Impact factor: 8.790

5.  Cone-rod dystrophy can be a manifestation of Danon disease.

Authors:  Alberta A H J Thiadens; Niki W R Slingerland; Ralph J Florijn; Gerhard H Visser; Frans C Riemslag; Caroline C W Klaver
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2012-05       Impact factor: 3.117

6.  Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imaging.

Authors:  Ailbhe C O'Neill; Shaunagh McDermott; Carole A Ridge; Kenneth McDonald; David Keane; Jonathan D Dodd
Journal:  Insights Imaging       Date:  2010-10-19

7.  A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy.

Authors:  Jing Xu; Lu Wang; Xiangdong Liu; Qiming Dai
Journal:  Mol Genet Genomic Med       Date:  2019-08-28       Impact factor: 2.183

Review 8.  Danon disease: a case report and literature review.

Authors:  Jiamin Xu; Zhu Li; Yihai Liu; Xinlin Zhang; Fengnan Niu; Hongyan Zheng; Lian Wang; Lina Kang; Kun Wang; Biao Xu
Journal:  Diagn Pathol       Date:  2021-05-01       Impact factor: 3.196

9.  Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.

Authors:  Jiri Gurka; Lenka Piherova; Filip Majer; Anna Chaloupka; Daniela Zakova; Ondrej Pelak; Alice Krebsova; Petr Peichl; Jan Krejci; Tomas Freiberger; Vojtech Melenovsky; Josef Kautzner; Tomas Kalina; Jakub Sikora; Milos Kubanek
Journal:  ESC Heart Fail       Date:  2020-07-13

10.  A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene.

Authors:  Ying Zhang; Hang Ren; Shanshan Zhou
Journal:  Medicine (Baltimore)       Date:  2020-10-02       Impact factor: 1.817
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