Tomasz Kmieć

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Sergiusz Jóźwiak, Katarzyna Kotulska, Dorota Domańska‐Pakieła et al. · European Journal of Paediatric Neurology · 2011 · 309 citations · Full text

Medicine, Neurology, Pediatrics +15

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

Monika Hartig, Arcangela Iuso, Tobias B. Haack et al. · The American Journal of Human Genetics · 2011 · 266 citations · Full text

Life Sciences, Genetics, Neuroscience +12

Genotypic and phenotypic spectrum of <i>PANK2</i> mutations in patients with neurodegeneration with brain iron accumulation

Monika Hartig, Konstanze Hörtnagel, Barbara Garavaglia et al. · Annals of Neurology · 2006 · 182 citations

Life Sciences, Genetics, Neurology +17

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Ronald G. Lafrenière, Daniel Rochefort, Nathalie Chrétien et al. · Nature Genetics · 1997 · 179 citations

Life Sciences, Genetics, Molecular Genetics +11

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

Katarzyna Kotulska, Dariusz Chmielewski, Julita Borkowska et al. · European Journal of Paediatric Neurology · 2013 · 109 citations

Medicine, Neurology, Pediatrics +13