Detalhe da pesquisa
1.
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Brain
; 146(3): 880-897, 2023 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36380488
2.
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
Hum Genet
; 135(11): 1269-1278, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27487800
3.
Advances and challenges in modeling inherited peripheral neuropathies using iPSCs.
Exp Mol Med
; 2024 Jun 03.
Artigo
Inglês
| MEDLINE | ID: mdl-38825644
4.
Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms.
MicroPubl Biol
; 20232023.
Artigo
Inglês
| MEDLINE | ID: mdl-37008727
5.
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.
Dis Model Mech
; 13(2)2020 01 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31969342
6.
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
Mol Genet Genomic Med
; 6(3): 422-433, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29573232