Detalhe da pesquisa
1.
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and mice.
Am J Med Genet A
; 191(10): 2508-2517, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353954
2.
Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A).
Stem Cell Res
; 71: 103181, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595341
3.
DNA methylation of the promoter region at the CREB1 binding site is a mechanism for the epigenetic regulation of brain-specific PKMζ.
Biochim Biophys Acta Gene Regul Mech
; 1866(1): 194909, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36682583
4.
Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.
Front Cell Neurosci
; 15: 803302, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35095425
5.
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case.
J Neurodev Disord
; 11(1): 13, 2019 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319798