Detalhe da pesquisa
1.
Genetic disorders of cellular trafficking.
Trends Genet
; 38(7): 724-751, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35367088
2.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
3.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain
; 146(7): 3003-3013, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729635
4.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
J Med Genet
; 60(10): 965-973, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197784
5.
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
J Transl Med
; 21(1): 756, 2023 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37884937
6.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
J Inherit Metab Dis
; 2023 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37932875
7.
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
Int J Mol Sci
; 22(19)2021 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638716
8.
Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
Int J Mol Sci
; 21(2)2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31947619
9.
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Am J Med Genet A
; 179(12): 2459-2468, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31520464
10.
Synaptic energy metabolism and neuronal excitability, in sickness and health.
J Inherit Metab Dis
; 42(2): 220-236, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734319
11.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177572
12.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Brain
; 139(Pt 1): 31-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657515
13.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
Hum Mutat
; 35(4): 470-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24449431
14.
A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease.
Hum Mutat
; 34(2): 355-62, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23086801
15.
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
Oxid Med Cell Longev
; 2018: 1246069, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29743968
16.
Ndufs4 related Leigh syndrome: A case report and review of the literature.
Mitochondrion
; 28: 73-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27079373
17.
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Orphanet J Rare Dis
; 9: 92, 2014 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24957181