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
Inglês
| MEDLINE | ID: mdl-38294974
2.
A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.
Eur J Neurol
; 28(9): 3040-3050, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34096670
3.
Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report.
Neuropediatrics
; 51(6): 450-452, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32892336
4.
Current advancements in therapy for Niemann-Pick disease: progress and pitfalls.
Expert Opin Pharmacother
; 24(11): 1229-1247, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37211769
5.
Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.
Cells
; 12(18)2023 Sep 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37759536
6.
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
Neurology
; 100(10): e1072-e1083, 2023 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36456200
7.
Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia.
J Child Neurol
; 37(1): 20-27, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34620022
8.
Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
J Neurol
; 269(3): 1651-1662, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34387740
9.
Do heterozygous mutations of Niemann-Pick type C predispose to late-onset neurodegeneration: a review of the literature.
J Neurol
; 268(6): 2055-2064, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-31701332
10.
Acetylation turns leucine into a drug by membrane transporter switching.
Sci Rep
; 11(1): 15812, 2021 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34349180
11.
Acetyl-leucine slows disease progression in lysosomal storage disorders.
Brain Commun
; 3(1): fcaa148, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33738443
12.
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Nat Commun
; 12(1): 1158, 2021 02 24.
Artigo
Inglês
| MEDLINE | ID: mdl-33627648
13.
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Neurology
; 94(16): e1702-e1715, 2020 04 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32234823
14.
Retinal axonal degeneration in Niemann-Pick type C disease.
J Neurol
; 267(7): 2070-2082, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32222928
15.
An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders.
Orphanet J Rare Dis
; 14(1): 193, 2019 08 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31395076
16.
No Evidence of a Contribution of the Vestibular System to Frequent Falls in Progressive Supranuclear Palsy.
J Clin Neurol
; 15(3): 339-346, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-31286706
17.
Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
Orphanet J Rare Dis
; 13(1): 143, 2018 08 16.
Artigo
Inglês
| MEDLINE | ID: mdl-30115089
18.
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings.
Front Neurol
; 8: 711, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29379464