129 related articles for article (PubMed ID: 12398843)
1. Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Lacoste-Collin L; Garcia V; Uro-Coste E; Arné-Bes MC; Durand D; Levade T; Delisle MB
Neuromuscul Disord; 2002 Nov; 12(9):882-5. PubMed ID: 12398843
[TBL] [Abstract][Full Text] [Related]
2. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
Nishino I; Fu J; Tanji K; Yamada T; Shimojo S; Koori T; Mora M; Riggs JE; Oh SJ; Koga Y; Sue CM; Yamamoto A; Murakami N; Shanske S; Byrne E; Bonilla E; Nonaka I; DiMauro S; Hirano M
Nature; 2000 Aug; 406(6798):906-10. PubMed ID: 10972294
[TBL] [Abstract][Full Text] [Related]
3. Disease model: LAMP-2 enlightens Danon disease.
Saftig P; Tanaka Y; Lüllmann-Rauch R; von Figura K
Trends Mol Med; 2001 Jan; 7(1):37-9. PubMed ID: 11427988
[TBL] [Abstract][Full Text] [Related]
4. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice.
Tanaka Y; Guhde G; Suter A; Eskelinen EL; Hartmann D; Lüllmann-Rauch R; Janssen PM; Blanz J; von Figura K; Saftig P
Nature; 2000 Aug; 406(6798):902-6. PubMed ID: 10972293
[TBL] [Abstract][Full Text] [Related]
5. Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.
Musumeci O; Rodolico C; Nishino I; Di Guardo G; Migliorato A; Aguennouz M; Mazzeo A; Messina C; Vita G; Toscano A
Neuromuscul Disord; 2005 Jun; 15(6):409-11. PubMed ID: 15907287
[TBL] [Abstract][Full Text] [Related]
6. Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey.
Charron P; Villard E; Sébillon P; Laforêt P; Maisonobe T; Duboscq-Bidot L; Romero N; Drouin-Garraud V; Frébourg T; Richard P; Eymard B; Komajda M
Heart; 2004 Aug; 90(8):842-6. PubMed ID: 15253947
[TBL] [Abstract][Full Text] [Related]
7. Clinicopathological features of genetically confirmed Danon disease.
Sugie K; Yamamoto A; Murayama K; Oh SJ; Takahashi M; Mora M; Riggs JE; Colomer J; Iturriaga C; Meloni A; Lamperti C; Saitoh S; Byrne E; DiMauro S; Nonaka I; Hirano M; Nishino I
Neurology; 2002 Jun; 58(12):1773-8. PubMed ID: 12084876
[TBL] [Abstract][Full Text] [Related]
8. Autophagic vacuolar pathology in desminopathies.
Weihl CC; Iyadurai S; Baloh RH; Pittman SK; Schmidt RE; Lopate G; Pestronk A; Harms MB
Neuromuscul Disord; 2015 Mar; 25(3):199-206. PubMed ID: 25557463
[TBL] [Abstract][Full Text] [Related]
9. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.
Echaniz-Laguna A; Mohr M; Epailly E; Nishino I; Charron P; Richard P; Guiraud-Chaumeil C; Tranchant C
Muscle Nerve; 2006 Mar; 33(3):393-7. PubMed ID: 16372318
[TBL] [Abstract][Full Text] [Related]
10. Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
Lobrinus JA; Schorderet DF; Payot M; Jeanrenaud X; Bottani A; Superti-Furga A; Schlaepfer J; Fromer M; Jeannet PY
Neuromuscul Disord; 2005 Apr; 15(4):293-8. PubMed ID: 15792868
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.
Horváth J; Ketelsen UP; Geibel-Zehender A; Boehm N; Olbrich H; Korinthenberg R; Omran H
Neuropediatrics; 2003 Jun; 34(5):270-3. PubMed ID: 14598234
[TBL] [Abstract][Full Text] [Related]
12. Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.
Bui YK; Renella P; Martinez-Agosto JA; Verity A; Madikians A; Alejos JC
Pediatr Transplant; 2008 Mar; 12(2):246-50. PubMed ID: 18282207
[TBL] [Abstract][Full Text] [Related]
13. A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
Licchetta L; Bisulli F; Fietz M; Valentino ML; Morbin M; Mostacci B; Oliver KL; Berkovic SF; Tinuper P
Eur J Med Genet; 2015 Oct; 58(10):540-4. PubMed ID: 26360874
[TBL] [Abstract][Full Text] [Related]
14. DNAJB6 myopathy: a vacuolar myopathy with childhood onset.
Suarez-Cedeno G; Winder T; Milone M
Muscle Nerve; 2014 Apr; 49(4):607-10. PubMed ID: 24170373
[TBL] [Abstract][Full Text] [Related]
15. Infantile autophagic vacuolar myopathy is distinct from Danon disease.
Yamamoto A; Morisawa Y; Verloes A; Murakami N; Hirano M; Nonaka I; Nishino I
Neurology; 2001 Sep; 57(5):903-5. PubMed ID: 11552028
[TBL] [Abstract][Full Text] [Related]
16. Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.
Schleutker J; Haataja L; Renlund M; Puhakka L; Viitala J; Peltonen L; Aula P
Hum Genet; 1991 Nov; 88(1):95-7. PubMed ID: 1959930
[TBL] [Abstract][Full Text] [Related]
17. LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.
Sugimoto S; Shiomi K; Yamamoto A; Nishino I; Nonaka I; Ohi T
Intern Med; 2007; 46(11):757-60. PubMed ID: 17541230
[TBL] [Abstract][Full Text] [Related]
18. [Danon disease].
Nishino I
Ryoikibetsu Shokogun Shirizu; 2001; (36):225-9. PubMed ID: 11596375
[No Abstract] [Full Text] [Related]
19. Danon disease: case report and detection of new mutation.
Regelsberger G; Höftberger R; Pickl WF; Zlabinger GJ; Körmöczi U; Salzer-Muhar U; Luckner D; Bodamer OA; Mayr JA; Muss WH; Budka H; Bernheimer H
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S115-22. PubMed ID: 19588270
[TBL] [Abstract][Full Text] [Related]
20. Pacemaker malfunctions in Danon's disease.
Marras E; Sciarra L; Bocchino M; Delise P
Pacing Clin Electrophysiol; 2008 Jan; 31(1):125-8. PubMed ID: 18181922
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]