Detalhe da pesquisa
1.
Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome.
Int J Mol Sci
; 24(14)2023 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511424
2.
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
BMC Neurol
; 16: 74, 2016 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27206732
3.
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
BMC Med
; 9: 82, 2011 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21726432
4.
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.
Exp Neurol
; 320: 112958, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132363
5.
Tectonic gene mutations in patients with Joubert syndrome.
Eur J Hum Genet
; 23(5): 616-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118024
6.
Characterization of the MeCP2R168X knockin mouse model for Rett syndrome.
PLoS One
; 9(12): e115444, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25541993
7.
Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model.
J Mol Med (Berl)
; 89(4): 389-98, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21120444