Detalhe da pesquisa
1.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38294974
2.
Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
J Neurol
; 269(3): 1651-1662, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387740
3.
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Epilepsy Res
; 176: 106699, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229227
4.
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Sci Rep
; 10(1): 10288, 2020 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581296
5.
Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene.
J Mol Neurosci
; 67(4): 559-563, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30632081
6.
DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.
Seizure
; 56: 31-33, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29427836