Detalhe da pesquisa
1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
2.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
; 9(10): e1809, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34519438
3.
Authors' response to: "Alexander disease genetics: Beyond GFAP exon sequencing?"
J Neuropathol Exp Neurol
; 83(1): 67-68, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990770
4.
Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review.
J Neuropathol Exp Neurol
; 81(12): 1033-1036, 2022 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137250