Detalhe da pesquisa
1.
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
Ann Neurol
; 88(5): 867-877, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808683
2.
AAV.shRNA-mediated downregulation of ROCK2 attenuates degeneration of dopaminergic neurons in toxin-induced models of Parkinson's disease in vitro and in vivo.
Neurobiol Dis
; 73: 150-62, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25283984
3.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
4.
X-ray fluorescence analysis of iron and manganese distribution in primary dopaminergic neurons.
J Neurochem
; 124(2): 250-61, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23106162
5.
Upregulation of reggie-1/flotillin-2 promotes axon regeneration in the rat optic nerve in vivo and neurite growth in vitro.
Neurobiol Dis
; 51: 168-76, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23174179
6.
MicroRNA-124 protects against focal cerebral ischemia via mechanisms involving Usp14-dependent REST degradation.
Acta Neuropathol
; 126(2): 251-65, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754622
7.
MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.
Haematologica
; 103(2): e55-e58, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097497
8.
Inhibition of rho kinase enhances survival of dopaminergic neurons and attenuates axonal loss in a mouse model of Parkinson's disease.
Brain
; 135(Pt 11): 3355-70, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23087045
9.
Mechanisms of acute axonal degeneration in the optic nerve in vivo.
Proc Natl Acad Sci U S A
; 107(13): 6064-9, 2010 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20231460
10.
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Brain Commun
; 5(3): fcad152, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37223130
11.
Axonal degeneration as a therapeutic target in the CNS.
Cell Tissue Res
; 349(1): 289-311, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22392734
12.
Glial fibrillary acidic protein in cerebrospinal fluid of patients with spinal muscular atrophy.
Ann Clin Transl Neurol
; 9(9): 1437-1448, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951535
13.
Safety and Effectiveness of Long-term Intravenous Administration of Edaravone for Treatment of Patients With Amyotrophic Lateral Sclerosis.
JAMA Neurol
; 79(2): 121-130, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35006266
14.
Challenges and opportunities for Multi-National Investigator-Initiated clinical trials for ALS: European and United States collaborations.
Amyotroph Lateral Scler Frontotemporal Degener
; 22(5-6): 419-425, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33533663
15.
Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment.
Ann Clin Transl Neurol
; 8(5): 1049-1063, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33792208
16.
TGF-beta 1 enhances neurite outgrowth via regulation of proteasome function and EFABP.
Neurobiol Dis
; 38(3): 395-404, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20211260
17.
Compassionate Use of the ROCK Inhibitor Fasudil in Three Patients With Amyotrophic Lateral Sclerosis.
Front Neurol
; 11: 173, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231638
18.
Neurofilament light chain in serum of adolescent and adult SMA patients under treatment with nusinersen.
J Neurol
; 267(1): 36-44, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31552549
19.
Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study.
Lancet Neurol
; 19(4): 317-325, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32199097
20.
Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen.
Front Neurol
; 10: 1179, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31787927