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Literature DB >> 25228319

Danon disease: clinical features, evaluation, and management.

Ryan S D'souza¹, Cecilia Levandowski¹, Dobromir Slavov¹, Sharon L Graw¹, Larry A Allen¹, Eric Adler¹, Luisa Mestroni¹, Matthew R G Taylor².

Abstract

Entities: Chemical Disease Gene Mutation Species

Keywords: cardiomyopathy, dilated; cardiomyopathy, hypertrophic; genetics; glycogen storage disease type IIb; lysosomal-associated membrane protein 2; molecular biology; mutation

Mesh：

Substances：

Year: 2014 PMID： 25228319 PMCID： PMC4169002 DOI： 10.1161/CIRCHEARTFAILURE.114.001105

Source DB: PubMed Journal: Circ Heart Fail ISSN： 1941-3289 Impact factor: 8.790

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45 in total

1. Psychosis in a patient with Danon cardiomyopathy.

Authors: Daniel E Hatz; Ashish Sharma; Katherine E Germer; Emily A Rolfsmeyer; Joslin M Bowen
Journal: Gen Hosp Psychiatry Date: 2010-03-01 Impact factor: 3.238

2. LAMP2 microdeletions in patients with Danon disease.

Authors: Zhao Yang; Birgit H Funke; Linda H Cripe; G Wesley Vick; Debora Mancini-Dinardo; Liana S Peña; Ronald J Kanter; Brenda Wong; Brandy H Westerfield; Jaquelin J Varela; Yuxin Fan; Jeffrey A Towbin; Matteo Vatta
Journal: Circ Cardiovasc Genet Date: 2010-02-20

3. Ophthalmic manifestations of Danon disease.

Authors: F Ryan Prall; Arlene Drack; Matthew Taylor; Lisa Ku; Jeffrey L Olson; Darren Gregory; Luisa Mestroni; Naresh Mandava
Journal: Ophthalmology Date: 2006-06 Impact factor: 12.079

4. Extension of the clinical spectrum of Danon disease.

Authors: A J van der Kooi; 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
Journal: Neurology Date: 2008-04-15 Impact factor: 9.910

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

Authors: E Bertini; M A Donati; P Broda; D Cassandrini; S Petrini; C Dionisi-Vici; L Ballerini; R Boldrini; A D'Amico; E Pasquini; C Minetti; F M Santorelli; C Bruno
Journal: Neuropediatrics Date: 2005-10 Impact factor: 1.947

6. Retinopathy in Danon disease.

Authors: Daniel F Schorderet; Sandra Cottet; Johannes Alexander Lobrinus; François-Xavier Borruat; Aubin Balmer; Francis L Munier
Journal: Arch Ophthalmol Date: 2007-02

7. Danon disease presenting with dilated cardiomyopathy and a complex phenotype.

Authors: Matthew R G Taylor; Lisa Ku; Dobromir Slavov; Jean Cavanaugh; Mark Boucek; Xiao Zhu; Sharon Graw; Elisa Carniel; Carl Barnes; Dianna Quan; Ryan Prall; Mark A Lovell; Gary Mierau; Patsy Ruegg; Naresh Mandava; Michael R Bristow; Jeffrey A Towbin; Luisa Mestroni
Journal: J Hum Genet Date: 2007 Impact factor: 3.172

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

Authors: Ray E Hershberger; Joann Lindenfeld; Luisa Mestroni; Christine E Seidman; Matthew R G Taylor; Jeffrey A Towbin
Journal: J Card Fail Date: 2009-03 Impact factor: 5.712

9. Cardiovascular magnetic resonance findings in a case of Danon disease.

Authors: Dorota Piotrowska-Kownacka; Lukasz Kownacki; Marek Kuch; Ewa Walczak; Agnieszka Kosieradzka; Anna Fidzianska; Leszek Krolicki
Journal: J Cardiovasc Magn Reson Date: 2009-04-29 Impact factor: 5.364

10. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

Authors: Barry J Maron; William C Roberts; Michael Arad; Tammy S Haas; Paolo Spirito; Gregory B Wright; Adrian K Almquist; Jeanne M Baffa; J Philip Saul; Carolyn Y Ho; Jonathan Seidman; Christine E Seidman
Journal: JAMA Date: 2009-03-25 Impact factor: 56.272

47 in total

1. Phenotyping an adult zebrafish lamp2 cardiomyopathy model identifies mTOR inhibition as a candidate therapy.

Authors: Alexey V Dvornikov; Mingmin Wang; Jingchun Yang; Ping Zhu; Tai Le; Xueying Lin; Hung Cao; Xiaolei Xu
Journal: J Mol Cell Cardiol Date: 2019-06-20 Impact factor: 5.000

Review 2. Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis, Prognosis, and Treatment of Infiltrative Cardiomyopathies.

Authors: Praveen G Ranganath; Albree Tower-Rader
Journal: Curr Cardiol Rep Date: 2021-06-03 Impact factor: 2.931

Review 3. 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

4. Brief Report: Oxidative Stress Mediates Cardiomyocyte Apoptosis in a Human Model of Danon Disease and Heart Failure.

Authors: Sherin I Hashem; Cynthia N Perry; Matthieu Bauer; Sangyoon Han; Stacey D Clegg; Kunfu Ouyang; Dekker C Deacon; Mary Spinharney; Athanasia D Panopoulos; Juan Carlos Izpisua Belmonte; Kelly A Frazer; Ju Chen; Qiuming Gong; Zhengfeng Zhou; Neil C Chi; Eric D Adler
Journal: Stem Cells Date: 2015-05-13 Impact factor: 6.277

Review 5. Novel Therapies for Prevention and Early Treatment of Cardiomyopathies.

Authors: Giuliana G Repetti; Christopher N Toepfer; Jonathan G Seidman; Christine E Seidman
Journal: Circ Res Date: 2019-05-24 Impact factor: 17.367

6. LAMP-2B regulates human cardiomyocyte function by mediating autophagosome-lysosome fusion.

Authors: Congwu Chi; Andrea Leonard; Walter E Knight; Kevin M Beussman; Yuanbiao Zhao; Yingqiong Cao; Pilar Londono; Ellis Aune; Michael A Trembley; Eric M Small; Mark Y Jeong; Lori A Walker; Hongyan Xu; Nathan J Sniadecki; Matthew R Taylor; Peter M Buttrick; Kunhua Song
Journal: Proc Natl Acad Sci U S A Date: 2018-12-24 Impact factor: 11.205