Detalhe da pesquisa
1.
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Genet Med;
24(11): 2308-2317, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36056923
2.
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Brain;
140(12): 3112-3127, 2017 Dec 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29126212
3.
Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia.
Neurodegener Dis;
16(5-6): 373-81, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27318863
4.
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.
Orphanet J Rare Dis;
18(1): 72, 2023 04 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37024986
5.
Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid.
CNS Spectr;
15(4): 231-6, 2010 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20414172
6.
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.
Neurobiol Aging;
69: 293.e9-293.e11, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29886022
7.
Recovery from spinal cord injury in tumor necrosis factor-alpha, signal transducers and activators of transcription 4 and signal transducers and activators of transcription 6 null mice.
Neuroreport;
18(2): 185-9, 2007 Jan 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17301687
8.
Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity.
Mitochondrion;
15: 34-9, 2014 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24691472
9.
Cholestenoic acids regulate motor neuron survival via liver X receptors.
J Clin Invest;
124(11): 4829-42, 2014 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25271621
10.
Lugaro's forgotten legacy: the hypothesis of negative neurotropism.
J Hist Neurosci;
19(3): 239-52, 2010 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20628953
11.
Partial recovery after treatment of chronic paraplegia in rat.
Exp Neurol;
188(1): 33-42, 2004 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15191800