Search results
- 1.0355559 - FGÚ 2011 RIV GB eng J - Journal Article
Mayr, J. A. - Havlíčková, Vendula - Zimmermann, F. - Magler, I. - Kaplanová, Vilma - Ješina, Pavel - Pecinová, Alena - Nůsková, Hana - Koch, J. - Sperl, W. - Houštěk, Josef
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit.
Human Molecular Genetics. Roč. 19, č. 17 (2010), s. 3430-3439. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA MZd(CZ) NS9759; GA MŠMT(CZ) 1M0520
Grant - others:Univerzita Karlova(CZ) 97807
Institutional research plan: CEZ:AV0Z50110509
Keywords : ATP-synthase * ATP5E * disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 8.058, year: 2010
Permanent Link: http://hdl.handle.net/11104/0194303 - 2.0355558 - FGÚ 2011 RIV GB eng J - Journal Article
Honzík, T. - Tesařová, M. - Mayr, J. A. - Hansíková, H. - Ješina, P. - Bodamer, O. - Koch, J. - Magner, M. - Freisinger, P. - Huemer, M. - Kostková, O. - Van Coster, R. - Kmoch, S. - Houštěk, Josef - Sperl, W. - Zeman, J.
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Archives of Disease in Childhood. Roč. 95, č. 4 (2010), s. 296-301. ISSN 0003-9888. E-ISSN 1468-2044
R&D Projects: GA MZd(CZ) NS9759; GA MŠMT(CZ) 1M0520
Institutional research plan: CEZ:AV0Z50110509
Keywords : TMEM70 * ATP synthase * mitochondrial disease
Subject RIV: FG - Pediatrics
Impact factor: 2.616, year: 2010
Permanent Link: http://hdl.handle.net/11104/0194302 - 3.0049061 - FGÚ 2007 RIV US eng J - Journal Article
Sperl, W. - Ješina, Pavel - Zeman, J. - Mayr, J. A. - DeMeirleir, L. - VanCoster, R. - Pícková, Andrea - Hansíková, H. - Houšťková, H. - Krejčík, Zdeněk - Koch, J. - Smet, J. - Muss, W. - Holme, E. - Houštěk, Josef
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
[Klinické a biochemické projevy izolovaných defektů ATP syntázy jaderného původu.]
Neuromuscular Disorders. Roč. 16, č. 11 (2006), s. 821-829. ISSN 0960-8966. E-ISSN 1873-2364
R&D Projects: GA MZd(CZ) NR7790; GA MŠMT(CZ) 1M0520
Grant - others:CZ-AT(CZ) 6-06-3
Institutional research plan: CEZ:AV0Z50110509
Keywords : mitochondria * ATP synthase * disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 2.615, year: 2006
Permanent Link: http://hdl.handle.net/11104/0139555