Detalhe da pesquisa
1.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
2.
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
Neurol Sci
; 45(3): 1007-1016, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853291
3.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
J Inherit Metab Dis
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932875
4.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
5.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
6.
Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.
Neurogenetics
; 20(2): 73-82, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30903322
7.
Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi-Goutières syndrome.
Rheumatology (Oxford)
; 61(4): e87-e89, 2022 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850826
8.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Mov Disord
; 32(11): 1620-1630, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28845923
9.
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).
Neurol Genet
; 8(6): e200034, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524101
10.
Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.
Stem Cell Res
; 53: 102338, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087982
11.
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up.
Biomed Pharmacother
; 143: 112143, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34507114
12.
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness.
Parkinsonism Relat Disord
; 91: 19-22, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34454394
13.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Ann Clin Transl Neurol
; 7(8): 1436-1442, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32767480
14.
Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.
Mov Disord Clin Pract
; 6(8): 704-707, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31745482
15.
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.
Seizure
; 71: 161-165, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31369919
16.
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Parkinsonism Relat Disord
; 61: 179-186, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30340910
17.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
J Clin Med
; 8(1)2019 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30634555
18.
Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.
J Neurosurg Pediatr
; 22(4): 416-425, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30028274
19.
Assessing the landscape of STXBP1-related disorders in 534 individuals
Artigo
em Inglês
| Arca: Repositório institucional da Fiocruz | ID: arc-54728