Detalhe da pesquisa
1.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34172529
2.
Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.
Int J Mol Sci
; 23(8)2022 Apr 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35456968
3.
Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult-onset findings from chromosomal-microarray-analysis.
Prenat Diagn
; 41(3): 376-383, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33128404
4.
Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Neurochem Res
; 44(10): 2372-2384, 2019 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30968303
5.
The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage.
Biochim Biophys Acta Bioenerg
; 1859(9): 893-900, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29886046
6.
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.
Am J Med Genet A
; 170(6): 1603-7, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26992161
7.
Variable effects of omaveloxolone (RTA408) on primary fibroblasts with mitochondrial defects.
Front Mol Biosci
; 9: 890653, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36032663
8.
Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.
Cells
; 10(2)2021 02 20.
Artigo
Inglês
| MEDLINE | ID: mdl-33672589
9.
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.
Cells
; 9(2)2020 01 27.
Artigo
Inglês
| MEDLINE | ID: mdl-32012656
10.
Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis.
Obstet Gynecol
; 135(1): 149-157, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31809435
11.
Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage.
Eur J Hum Genet
; 26(4): 579-581, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29396562
12.
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.
Eur J Hum Genet
; 25(10): 1142-1146, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28766551
13.
The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.
J Clin Med
; 6(1)2016 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-28025489
14.
Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts.
PLoS One
; 11(10): e0165417, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27780242