Réka Kovács-Nagy

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 151 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>CAD</i>mutations and uridine-responsive epileptic encephalopathy

Johannes Koch, Johannes A. Mayr, Bader Alhaddad et al. · Brain · 2016 · 124 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Laura S. Kremer, Felix Distelmaier, Bader Alhaddad et al. · The American Journal of Human Genetics · 2016 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 74 citations · Full text

Life Sciences, Genetics, Neurology +17

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Nicole J. Van Bergen, Yiran Guo, Julia Rankin et al. · Brain · 2018 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17