Detalhe da pesquisa
1.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
2.
Maximizing lentiviral vector gene transfer in the CNS.
Gene Ther
; 28(1-2): 75-88, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32632267
3.
Correction: Maximizing lentiviral vector gene transfer in the CNS.
Gene Ther
; 29(5): 312, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35413992
4.
Grape polyphenols decrease circulating branched chain amino acids in overfed adults.
Front Nutr
; 9: 998044, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36386937
5.
Polyphenol Supplementation Did Not Affect Insulin Sensitivity and Fat Deposition During One-Month Overfeeding in Randomized Placebo-Controlled Trials in Men and in Women.
Front Nutr
; 9: 854255, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35614978
6.
Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
J Clin Invest
; 129(12): 5312-5326, 2019 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31503551
7.
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Acta Neuropathol Commun
; 2: 47, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24758703
8.
Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice.
Mol Neurodegener
; 6: 25, 2011 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21486449