Detalhe da pesquisa
1.
SnapShot: Biology of Genetic Ataxias.
Cell
; 175(3): 890-890.e1, 2018 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30340048
2.
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Brain
; 144(5): 1467-1481, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889951
3.
O-GlcNAcase contributes to cognitive function in Drosophila.
J Biol Chem
; 295(26): 8636-8646, 2020 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32094227
4.
Integrative network and brain expression analysis reveals mechanistic modules in ataxia.
J Med Genet
; 56(5): 283-292, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591515
5.
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Brain
; 141(9): 2592-2604, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30084953
6.
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.
Brain
; 143(6): e51, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32428197
7.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Hum Mol Genet
; 21(19): 4151-61, 2012 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22492991
8.
Unraveling the brain's response to COVID-19: How SARS-CoV-2 afflicts dopaminergic neurons.
Cell Stem Cell
; 31(2): 152-154, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38306990
9.
Pre-clinical evaluation of clinically relevant iPS cell derived neuroepithelial stem cells as an off-the-shelf cell therapy for spinal cord injury.
Front Pharmacol
; 15: 1390058, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38841365
10.
Ataxia-associated DNA repair genes protect the Drosophila mushroom body and locomotor function against glutamate signaling-associated damage.
Front Neural Circuits
; 17: 1148947, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37476399
11.
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.
Front Cell Dev Biol
; 9: 710247, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34692675
12.
The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects.
Sci Adv
; 7(23)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34088660
13.
Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila.
PLoS One
; 14(2): e0211652, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30753188
14.
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.
Dis Model Mech
; 11(3)2018 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29590638
15.
High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay.
J Vis Exp
; (129)2017 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29155762
16.
Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology.
J Vis Exp
; (123)2017 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28518121
17.
TRPM7 is required for breast tumor cell metastasis.
Cancer Res
; 72(16): 4250-61, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22871386