Detalhe da pesquisa
1.
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.
Hum Mol Genet
; 32(12): 1988-2004, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795052
2.
Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine.
Mol Genet Metab
; 142(1): 108348, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387305
3.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Ann Neurol
; 94(4): 696-712, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37255483
4.
Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease.
Hum Mol Genet
; 30(7): 536-551, 2021 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640978
5.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet
; 105(2): 283-301, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
6.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Genet Med
; 24(2): 319-331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906466
7.
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis.
Mol Genet Metab
; 135(4): 342-349, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216885
8.
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
Mol Genet Metab
; 137(3): 230-238, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182714
9.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Mol Genet Metab
; 135(1): 93-101, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969639
10.
Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.
Hum Mol Genet
; 28(11): 1837-1852, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30668749
11.
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Ann Neurol
; 88(2): 218-232, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32445240
12.
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.
Am J Med Genet A
; 185(6): 1700-1711, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33751773
13.
Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit.
Pediatr Res
; 90(6): 1221-1227, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33627817
14.
The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery.
J Inherit Metab Dis
; 44(2): 312-324, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33006762
15.
Human Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth.
Int J Mol Sci
; 22(15)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34360662
16.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
17.
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Hum Mol Genet
; 27(19): 3305-3312, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29917077
18.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Am J Hum Genet
; 101(2): 239-254, 2017 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28777931
19.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med
; 22(11): 1920, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32814847
20.
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.
Curr Opin Pediatr
; 32(6): 707-718, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105273