Detalhe da pesquisa
1.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Am J Hum Genet;
109(8): 1549-1558, 2022 08 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35858628
2.
The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.
Cell Mol Life Sci;
81(1): 80, 2024 Feb 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38334784
3.
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
4.
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genet Med;
26(5): 101087, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38288683
5.
Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α-Synuclein Aggregation.
Mov Disord;
39(4): 723-728, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38357858
6.
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Brain;
146(8): 3156-3161, 2023 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37071596
7.
Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells.
Brain;
146(9): 3624-3633, 2023 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37410912
8.
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
9.
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
Hum Mol Genet;
30(1): 21-29, 2021 03 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33437983
10.
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
11.
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
Metab Brain Dis;
38(7): 2489-2497, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37642897
12.
Distinct Metabolic Profiles of Ocular Hypertensives in Response to Hypoxia.
Int J Mol Sci;
25(1)2023 Dec 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38203366
13.
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
14.
Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity.
Hum Mol Genet;
29(8): 1319-1329, 2020 05 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32202296
15.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Eur J Neurol;
29(11): 3229-3242, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36200804
16.
Mitochondrial Complex I Disruption Causes Broad Reorchestration of Plant Lipidome Including Chloroplast Lipids.
Int J Mol Sci;
24(1)2022 Dec 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36613895
17.
Metabolomic Sexual Dimorphism of the Mouse Brain is Predominantly Abolished by Gonadectomy with a Higher Impact on Females.
J Proteome Res;
20(5): 2772-2779, 2021 05 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33851846
18.
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
19.
Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Mol Vis;
27: 17-25, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33633436
20.
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Neuropediatrics;
52(5): 410-414, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33506479