Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
2.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Hum Mol Genet
; 31(4): 561-575, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508588
3.
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection.
Int J Mol Sci
; 24(5)2023 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36901881
4.
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Clin Genet
; 102(1): 56-60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246835
5.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Hum Mutat
; 42(6): 699-710, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715266
6.
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Neurobiol Dis
; 141: 104880, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32344152
7.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Hum Mol Genet
; 27(15): 2739-2754, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29767723
8.
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy.
Hum Mutat
; 40(5): 601-618, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801875
9.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Hum Mutat
; 40(10): 1731-1748, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045291
10.
Inflammatory profile in mitochondrial diseases: A cohort study.
Eur J Neurol
; 30(10): 3409-3410, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402160
11.
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Biochim Biophys Acta Mol Basis Dis
; 1863(4): 961-967, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132884
12.
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins.
Hum Mol Genet
; 27(20): 3650, 2018 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113620
13.
Silencing of the mitochondrial ribosomal protein L-24 gene activates the oxidative stress response in Caenorhabditis elegans.
Biochim Biophys Acta Gen Subj
; 1867(1): 130255, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265765
14.
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.
EBioMedicine
; 97: 104849, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37898095
15.
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
Front Oncol
; 13: 1324013, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260858
16.
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
Genes (Basel)
; 12(2)2021 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578638
17.
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Parkinsonism Relat Disord
; 72: 75-79, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120303
18.
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.
Parkinsonism Relat Disord
; 68: 8-16, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31621627
19.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Neurology
; 91(4): e319-e330, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959261
20.
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
J Neurol
; 264(1): 102-111, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27785568