Hanna Mierzewska

Natural History of Vanishing White Matter

Eline M. Hamilton, Hannemieke D. W. van der Lei, Gerre Vermeulen et al. · Annals of Neurology · 2018 · 122 citations · Full text

Medicine, Neurology, Neuroscience +16

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

Marek Böhm, Ewa Pronicka, Elżbieta Karczmarewicz et al. · Pediatric Research · 2005 · 109 citations · Full text

Life Sciences, Child Health, Pediatrics +3

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Marisa I. Mendes, Mariana Salazar, Kether Guerrero et al. · The American Journal of Human Genetics · 2018 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Diffuse hypomyelination is not obligate for POLR3-related disorders

Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran et al. · Neurology · 2016 · 76 citations · Full text

Medicine, Neurology, Neuroscience +16

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders

Magdalena Bartnik, Elżbieta Szczepanik, Katarzyna Derwińska et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2012 · 57 citations

Life Sciences, Genetics, Molecular Genetics +17