Ralitsa Yordanova

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Dimitar N. Azmanov, Teodora Chamova, Ilyana H. Pacheva et al. · Molecular Genetics and Metabolism · 2014 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Epilepsy in Children with Autistic Spectrum Disorder

Iliyana Pacheva, Ralitsa Yordanova, Katerina Gaberova et al. · Children · 2019 · 22 citations · Full text

Medicine, Neurology, Pediatrics +17

Association of NGF and Mitochondrial Respiration with Autism Spectrum Disorder

Maria Gevezova, D. Minchev, Iliana Pacheva et al. · International Journal of Molecular Sciences · 2022 · 14 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (HABC)Due to UFM1 Mutation in Roma Patients - Severe Early Encephalopathywith Stridor and Severe Hearing and Visual Impairment. A SingleCenter Experience

Iliyana Pacheva, Ralitsa Yordanova, Iglika Sotkova et al. · CNS & Neurological Disorders - Drug Targets · 2022 · 10 citations

Medicine, Neurology, Neuroscience +17

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas et al. · The American Journal of Human Genetics · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17