Detalhe da pesquisa
1.
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.
J Inherit Metab Dis
; 47(3): 494-508, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196161
2.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
3.
Synaptic metabolism: a new approach to inborn errors of neurotransmission.
J Inherit Metab Dis
; 41(6): 1065-1075, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014210
4.
Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.
Metab Brain Dis
; 31(3): 705-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686676
5.
Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.
Front Cell Dev Biol
; 12: 1321282, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38505260
6.
iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation.
EMBO Mol Med
; 15(3): e15847, 2023 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740977
7.
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.
Biomedicines
; 9(2)2021 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33546327
8.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Sci Rep
; 9(1): 9128, 2019 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235756
9.
Lack of association between the LPR and VNTR polymorphisms of the serotonin transporter gene and cocaine dependence in a Spanish sample.
Psychiatry Res
; 210(3): 1287-9, 2013 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24120036