Rita Horvath
Rita Horvath
E-mail megerősítve itt: medschl.cam.ac.uk
Cím
Hivatkozott rá
Hivatkozott rá
Év
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
GS Gorman, AM Schaefer, Y Ng, N Gomez, EL Blakely, CL Alston, ...
Annals of neurology 77 (5), 753-759, 2015
4352015
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
R Horvath, G Hudson, G Ferrari, N Fütterer, S Ahola, E Lamantea, ...
Brain 129 (7), 1674-1684, 2006
3762006
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA–haplogroup background
G Hudson, V Carelli, L Spruijt, M Gerards, C Mowbray, A Achilli, A Pyle, ...
The American Journal of Human Genetics 81 (2), 228-233, 2007
3262007
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
3062010
Universal heteroplasmy of human mitochondrial DNA
BAI Payne, IJ Wilson, P Yu-Wai-Man, J Coxhead, D Deehan, R Horvath, ...
Human molecular genetics 22 (2), 384-390, 2013
2842013
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
K Gempel, H Topaloglu, B Talim, P Schneiderat, BGH Schoser, VH Hans, ...
Brain 130 (8), 2037-2044, 2007
2712007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
W Müller-Felber, R Horvath, K Gempel, T Podskarbi, Y Shin, D Pongratz, ...
Neuromuscular Disorders 17 (9-10), 698-706, 2007
2472007
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ...
Jama 312 (1), 68-77, 2014
2412014
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
W Weraarpachai, H Antonicka, F Sasarman, J Seeger, B Schrank, ...
Nature genetics 41 (7), 833, 2009
2362009
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy
D Ghezzi, P Goffrini, G Uziel, R Horvath, T Klopstock, H Lochmüller, ...
Nature genetics 41 (6), 654-656, 2009
2262009
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with …
H Antonicka, SC Leary, GH Guercin, JN Agar, R Horvath, NG Kennaway, ...
Human molecular genetics 12 (20), 2693-2702, 2003
2252003
Risk of developing a mitochondrial DNA deletion disorder
PF Chinnery, S DiMauro, S Shanske, EA Schon, M Zeviani, C Mariotti, ...
The Lancet 364 (9434), 592-596, 2004
2132004
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis
SC Leary, PA Cobine, BA Kaufman, GH Guercin, A Mattman, J Palaty, ...
Cell metabolism 5 (1), 9-20, 2007
2072007
Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
BAI Payne, IJ Wilson, CA Hateley, R Horvath, M Santibanez-Koref, ...
Nature genetics 43 (8), 806-810, 2011
1932011
Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity
JD Stewart, R Horvath, E Baruffini, I Ferrero, S Bulst, PB Watkins, ...
Hepatology 52 (5), 1791-1796, 2010
1772010
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
G Hudson, S Keers, PYW Man, P Griffiths, K Huoponen, ML Savontaus, ...
The American Journal of Human Genetics 77 (6), 1086-1091, 2005
1772005
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, ...
Neurology 81 (19), 1697-1703, 2013
1452013
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
M Jaksch, C Paret, R Stucka, N Horn, J Müller-Höcker, R Horvath, ...
Human molecular genetics 10 (26), 3025-3035, 2001
1452001
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
P Yu-Wai-Man, PG Griffiths, A Burke, PW Sellar, MP Clarke, L Gnanaraj, ...
Ophthalmology 117 (8), 1538-1546. e1, 2010
1432010
Mitochondria: impaired mitochondrial translation in human disease
V Boczonadi, R Horvath
The international journal of biochemistry & cell biology 48, 77-84, 2014
1422014
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Cikkek 1–20