Detalhe da pesquisa
1.
Maternal anxiety-driven modulation of fetal limbic connectivity designs a backbone linking neonatal brain functional topology to socio-emotional development in early childhood.
J Neurosci Res
; 101(9): 1484-1503, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37313950
2.
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.
Hum Mol Genet
; 29(2): 177-188, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868880
3.
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial.
Lancet
; 388(10043): 476-87, 2016 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27289174
4.
Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Ann Clin Transl Neurol
; 10(10): 1844-1853, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644805
5.
Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.
J Mol Neurosci
; 56(1): 212-5, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25572663
6.
Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy.
Bone Marrow Transplant
; 53(7): 913-917, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29379168