Detalhe da pesquisa
1.
Disturbed brain energy metabolism in a rodent model of DYT-TOR1A dystonia.
Neurobiol Dis
; 194: 106462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38442845
2.
Peripheral nerve injury elicits microstructural and neurochemical changes in the striatum and substantia nigra of a DYT-TOR1A mouse model with dystonia-like movements.
Neurobiol Dis
; 179: 106056, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863527
3.
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Brain
; 145(11): 3968-3984, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35015830
4.
The evolution of dystonia-like movements in TOR1A rats after transient nerve injury is accompanied by dopaminergic dysregulation and abnormal oscillatory activity of a central motor network.
Neurobiol Dis
; 154: 105337, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33753289
5.
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Neurol Sci
; 42(4): 1523-1525, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188503
6.
Impaired dopamine- and adenosine-mediated signaling and plasticity in a novel rodent model for DYT25 dystonia.
Neurobiol Dis
; 134: 104634, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678405
7.
The impact of an audience response system on a summative assessment, a controlled field study.
BMC Med Educ
; 20(1): 218, 2020 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-32660496
8.
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Sci Adv
; 8(47): eabq6324, 2022 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36417521
9.
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
; 54(3): 349-357, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35145301
10.
Nerve Ultrasound as Helpful Tool in Polyneuropathies.
Diagnostics (Basel)
; 11(2)2021 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33572591
11.
Unraveling Molecular Mechanisms of THAP1 Missense Mutations in DYT6 Dystonia.
J Mol Neurosci
; 70(7): 999-1008, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112337
12.
Dynamic nuclear envelope phenotype in rats overexpressing mutated human torsinA protein.
Biol Open
; 7(7)2018 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739751
13.
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
Mov Disord Clin Pract
; 8(6): 972-976, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405109