Associated Papers
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf
Unraveling Neuronal Ceroid Lipofuscinosis: Insights From Two Pediatric Cases in Peripheral India.
Aman N et al.
Journal of Child Neurology, 2026
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Santos BV et al.
Neuropediatrics, 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
Congenital CLN8 disease of neuronal ceroid lipofuscinosis: a novel phenotype.
Pesaola F et al.
Revista De Neurologia, 2019
Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
Sahin Y et al.
Acta Neurologica Belgica, 2017
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R et al.
Biochimica Et Biophysica Acta, 2015
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Select a paper to view details