Detalhe da pesquisa
1.
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Mov Disord
; 37(6): 1309-1316, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426160
2.
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
J Neurol Neurosurg Psychiatry
; 94(5): 405-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737246
3.
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Brain Sci
; 13(8)2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37626525
4.
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
J Neurol
; 269(12): 6673-6677, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904593
5.
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Cold Spring Harb Mol Case Stud
; 2022 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36180229
6.
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
Brain Dev
; 42(9): 691-695, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773162
7.
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.
Brain Dev
; 42(2): 211-216, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31677917
8.
Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].
Brain Dev
; 43(5): 671, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33608194
9.
Parental germline mosaicism in SCN3A-related severe developmental disorder.
Brain Dev
; 43(5): 669-670, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33494954