Seguir
Rita Horvath
Rita Horvath
Dirección de correo verificada de medschl.cam.ac.uk
Título
Citado por
Citado por
Año
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
9252015
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
4522006
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
4382010
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
4172013
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
4052007
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
3682014
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3662021
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
3652007
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), 833-837, 2009
3332009
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
3082007
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
3012003
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
2922009
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
S Parikh, A Goldstein, A Karaa, MK Koenig, I Anselm, C Brunel-Guitton, ...
Genetics in Medicine 19 (12), 1380-1397, 2017
2822017
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
2722004
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
2712011
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
2632007
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
2472010
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
2372013
Mitochondria: impaired mitochondrial translation in human disease
V Boczonadi, R Horvath
The international journal of biochemistry & cell biology 48, 77-84, 2014
2162014
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
2152005
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20