Detalhe da pesquisa
1.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Acta Neuropathol
; 146(2): 353-368, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119330
2.
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.
Eur J Hum Genet
; 32(3): 350-356, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38200082