Detalhe da pesquisa
1.
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain
; 147(1): 91-99, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804319
2.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
3.
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain
; 146(2): 455-460, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317462
4.
Breast Cancer Chemoresistance: Insights into the Regulatory Role of lncRNA.
Int J Mol Sci
; 24(21)2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958880
5.
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
Hum Mutat
; 43(2): 128-142, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837429
6.
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Clin Genet
; 102(5): 438-443, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861300
7.
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Genet Med
; 23(9): 1769-1778, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040194
8.
Doxorubicin-Induced Autophagolysosome Formation Is Partly Prevented by Mitochondrial ROS Elimination in DOX-Resistant Breast Cancer Cells.
Int J Mol Sci
; 22(17)2021 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502189
9.
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
J Hum Genet
; 65(2): 91-98, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31645654
10.
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Mol Biol Rep
; 47(5): 3779-3787, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319008
11.
Increased Protein S-Glutathionylation in Leber's Hereditary Optic Neuropathy (LHON).
Int J Mol Sci
; 21(8)2020 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32344771
12.
CLUH couples mitochondrial distribution to the energetic and metabolic status.
J Cell Sci
; 130(11): 1940-1951, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28424233
13.
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
Genet Med
; 21(6): 1407-1416, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30393377
14.
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.
Biochim Biophys Acta Mol Basis Dis
; 1864(5 Pt A): 1596-1608, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454073
15.
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
J Cell Mol Med
; 21(10): 2284-2297, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378518
16.
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.
Hum Mol Genet
; 24(17): 5015-23, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26071363
17.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466283
18.
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 284-291, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27815040
19.
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Brain
; 139(11): 2864-2876, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633772
20.
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Neurobiol Dis
; 90: 20-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26311407