Detalhe da pesquisa
1.
A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.
PLoS Genet
; 16(11): e1009104, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33137126
2.
Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.
Hum Mol Genet
; 26(2): 258-269, 2017 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013290
3.
Tubulins and brain development - The origins of functional specification.
Mol Cell Neurosci
; 84: 58-67, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28347630
4.
MAPping tubulin mutations.
Front Cell Dev Biol
; 11: 1136699, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36875768
5.
Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice.
Sci Rep
; 13(1): 1215, 2023 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36681692
6.
Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
J Exp Med
; 219(9)2022 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947077
7.
Correction: Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.
J Exp Med
; 220(1)2023 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480208
8.
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Nat Neurosci
; 21(8): 1139, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875394
9.
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.
Nat Neurosci
; 21(2): 207-217, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29311744
10.
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Neuron
; 100(6): 1354-1368.e5, 2018 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30449657