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 · 304 citations · Full text

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 · 262 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Mitochondrial Function +14

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

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 · 178 citations

Unstable Insertion, Developmental Biology, Flanking Region +5

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 · 108 citations

Tuberous Sclerosis Complex, Neuro-oncology, Long-term Effect +5