[HTML][HTML] The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis
S Bernardi, F Gemignani, M Marchese - Neurobiology of Disease, 2023 - Elsevier
The progressive myoclonic epilepsies (PMEs) are a group of rare neurodegenerative
diseases characterized by myoclonus, epileptic seizures, and progressive neurological …
diseases characterized by myoclonus, epileptic seizures, and progressive neurological …
Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: a case report
Y Wang, S Wang, K Li, Y Zhu, K Xia, D Sun… - Frontiers in …, 2022 - frontiersin.org
Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal
recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is …
recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is …
Provoked seizures at the onset of progressive disease contribute to diagnosis delay-A tertiary center experience in a cohort of 22 children with CLN2
R Kravljanac, BV Tadic - European Journal of Paediatric Neurology, 2022 - Elsevier
Purpose The evaluation of epilepsy features and factors with impact to diagnosis delay in
children with CLN2. Method The study included children with CLN2 treated from 2000 to …
children with CLN2. Method The study included children with CLN2 treated from 2000 to …
Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A
Y Wang, S Wang, K Li, Y Zhu, K Xia… - Neurogenetics …, 2023 - books.google.com
Krabbe disease (KD) is an autosomal recessive condition initially reported by the Danish
neuropathologist Knud Krabbe (1). It is now classified as a sphingolipidosis, a lipid storage …
neuropathologist Knud Krabbe (1). It is now classified as a sphingolipidosis, a lipid storage …
Neuronska ceroidna lipofuscinoza–najčešća neurodegenrativna bolest u djetinjstvu
R Kravljanac - Paediatria Croatica, 2020 - hrcak.srce.hr
Sažetak Cilj: Neuronska ceroidna lipofuscinoza pripada skupini lizosomskih poremećaja,
obuhvaća četrnaest tipova bolesti i najčešća je neurodegenerativna bolest u djetinjstvu. Cilj …
obuhvaća četrnaest tipova bolesti i najčešća je neurodegenerativna bolest u djetinjstvu. Cilj …