Detalhe da pesquisa
1.
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Brain
; 145(5): 1624-1631, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148383
2.
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Int J Mol Sci
; 24(2)2023 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675121
3.
Melatonin and Sirtuins in Buccal Epithelium: Potential Biomarkers of Aging and Age-Related Pathologies.
Int J Mol Sci
; 21(21)2020 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33143333
4.
Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
J Inherit Metab Dis
; 42(5): 918-933, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260105
5.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med
; 14(1): 38, 2022 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379322
6.
POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.
Clin Neurol Neurosurg
; 201: 106462, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33434755
7.
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Parkinsonism Relat Disord
; 84: 98-104, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607528
8.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
J Clin Invest
; 131(6)2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465056
9.
Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Mitochondrion
; 50: 139-144, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31669237
10.
A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.
Mitochondrion
; 47: 10-17, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009750