Associated Papers
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Lourenço CM et al.
Arquivos De Neuro-psiquiatria, 2024
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis.
K P et al.
Metabolic Brain Disease, 2024
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
36034292 (PubMed )
Supplement: Table_1.XLSX › SA_C_cohort
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Lourenço CM et al.
Journal of Paediatrics and Child Health, 2021
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
Chen ZR et al.
Seizure, 2019
Neuronal Ceroid Lipofuscinoses: Connecting Calcium Signalling through Calmodulin.
Mathavarajah S et al.
Cells, 2018
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Kohan R et al.
Gene, 2013
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