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.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Ann Neurol
; 91(2): 225-237, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954817
3.
The multiple facets of mitochondrial regulations controlling cellular thermogenesis.
Cell Mol Life Sci
; 79(10): 525, 2022 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36125552
4.
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Clin Genet
; 102(5): 438-443, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861300
5.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35621276
6.
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
7.
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
8.
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.
Hum Mutat
; 41(2): 397-402, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680380
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.
Phostine 3.1a as a pharmacological compound with antiangiogenic properties against diseases with excess vascularization.
FASEB J
; 33(5): 5864-5875, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817178
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.
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Am J Hum Genet
; 97(5): 754-60, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593267
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