Sledovat
Rita Horvath
Rita Horvath
E-mailová adresa ověřena na: medschl.cam.ac.uk
Název
Citace
Citace
Rok
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
9212015
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
4162013
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
3652021
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
3642007
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
2932009
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
Systém momentálně nemůže danou operaci provést. Zkuste to znovu později.
Články 1–20