Literature DB >> 23955649

Danon disease. A novel mutation in the LAMP-2 gene and ophthalmic abnormality.

J He1, Y Wang, T Jiang.   

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Year:  2013        PMID： 23955649     DOI： 10.1007/s00059-013-3900-5

Source DB:  PubMed          Journal:  Herz        ISSN： 0340-9937            Impact factor:   1.443


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  9 in total

1.  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

2.  Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.

Authors:  Andoni Echaniz-Laguna; Michel Mohr; Eric Epailly; Ichizo Nishino; Philippe Charron; Pascale Richard; Christophe Guiraud-Chaumeil; Christine Tranchant
Journal:  Muscle Nerve       Date:  2006-03       Impact factor: 3.217

3.  Lysosomal glycogen storage disease with normal acid maltase.

Authors:  M J Danon; S J Oh; S DiMauro; J R Manaligod; A Eastwood; S Naidu; L H Schliselfeld
Journal:  Neurology       Date:  1981-01       Impact factor: 9.910

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

Authors:  I Nishino; J Fu; K Tanji; T Yamada; S Shimojo; T Koori; M Mora; J E Riggs; S J Oh; Y Koga; C M Sue; A Yamamoto; N Murakami; S Shanske; E Byrne; E Bonilla; I Nonaka; S DiMauro; M Hirano
Journal:  Nature       Date:  2000-08-24       Impact factor: 49.962

5.  Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Authors:  Michael Arad; Barry J Maron; Joshua M Gorham; Walter H Johnson; J Philip Saul; Antonio R Perez-Atayde; Paolo Spirito; Gregory B Wright; Ronald J Kanter; Christine E Seidman; J G Seidman
Journal:  N Engl J Med       Date:  2005-01-27       Impact factor: 91.245

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

Authors:  P Charron; E Villard; P Sébillon; P Laforêt; T Maisonobe; L Duboscq-Bidot; N Romero; V Drouin-Garraud; T Frébourg; P Richard; B Eymard; M Komajda
Journal:  Heart       Date:  2004-08       Impact factor: 5.994

Review 8.  Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy.

Authors:  Nobuhiro Dougu; Shuji Joho; Lishen Shan; Takuya Shida; Akira Matsuki; Keiichiro Uese; Keiichi Hirono; Fukiko Ichida; Kortaro Tanaka; Ichizo Nishino; Hiroshi Inoue
Journal:  Circ J       Date:  2008-12-05       Impact factor: 2.993

Review 9.  Clinicopathological features of genetically confirmed Danon disease.

Authors:  K Sugie; A Yamamoto; K Murayama; S J Oh; M Takahashi; M Mora; J E Riggs; J Colomer; C Iturriaga; A Meloni; C Lamperti; S Saitoh; E Byrne; S DiMauro; I Nonaka; M Hirano; I Nishino
Journal:  Neurology       Date:  2002-06-25       Impact factor: 9.910
  9 in total
  3 in total

Review 1.  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

2.  Lysosome-associated membrane protein-2 deficiency increases the risk of reactive oxygen species-induced ferroptosis in retinal pigment epithelial cells.

Authors:  Jong-Jer Lee; Kenji Ishihara; Shoji Notomi; Nikolaos E Efstathiou; Takashi Ueta; Daniel Maidana; Xiaohong Chen; Yasuhiro Iesato; Alberto Caligiana; Demetrios G Vavvas
Journal:  Biochem Biophys Res Commun       Date:  2019-10-28       Impact factor: 3.575

Review 3.  Molecular Mechanisms of Iron Mediated Programmed Cell Death and Its Roles in Eye Diseases.

Authors:  Jie Zhang; Shuai Sheng; Wenting Wang; Jiazhen Dai; Yifan Zhong; Jiantao Ren; Keke Jiang; Shuchan Li; Xiaoyan Bian; Lei Liu
Journal:  Front Nutr       Date:  2022-04-05
  3 in total

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