Detalhe da pesquisa
1.
A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Brain
; 141(8): 2289-2298, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30010796
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.
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain
; 140(5): 1204-1211, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334938
4.
Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes.
Am J Hum Biol
; 29(2)2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27761960
5.
Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.
Muscle Nerve
; 49(1): 131-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123118
6.
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
7.
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Eur J Paediatr Neurol
; 34: 7-13, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34271245
8.
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
9.
ATP6V1B2-related epileptic encephalopathy.
Epileptic Disord
; 22(3): 317-322, 2020 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597767
10.
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
11.
Spastic paraplegia, optic atrophy, and neuropathy: new observations, locus refinement, and exclusion of candidate genes.
Ann Hum Genet
; 73(Pt 3): 382-7, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19344448
12.
Pericytes Extend Survival of ALS SOD1 Mice and Induce the Expression of Antioxidant Enzymes in the Murine Model and in IPSCs Derived Neuronal Cells from an ALS Patient.
Stem Cell Rev Rep
; 13(5): 686-698, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710685
13.
Parental germline mosaicism in SCN3A-related severe developmental disorder.
Brain Dev
; 43(5): 669-670, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33494954
14.
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
15.
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy.
Neurol Genet
; 5(1): e306, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30697592
16.
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25.
Neurogenetics
; 9(3): 225-6, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18463901
17.
Typical clinical and neuroimaging features in Sjögren-Larsson syndrome.
Arq Neuropsiquiatr
; 76(4): 283, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742247
18.
A novel GFAP mutation in a type II (late-onset) Alexander disease patient.
J Neurol
; 263(4): 821-2, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26914930
19.
Leukodystrophy with premature ovarian failure: think on vanishing white matter disease (VWMD).
Arq Neuropsiquiatr
; 73(1): 65, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608131
20.
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN).
Arq Neuropsiquiatr
; 68(1): 3-6, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20339643