Detalhe da pesquisa
1.
Defining mitochondrial protein functions through deep multiomic profiling.
Nature
; 606(7913): 382-388, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35614220
2.
FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors.
EMBO J
; 42(13): e112767, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37161784
3.
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
Mol Cell
; 69(1): 9-23.e6, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290614
4.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
5.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Hum Mol Genet
; 31(4): 523-534, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508595
6.
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
Hum Mol Genet
; 31(12): 2049-2062, 2022 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35024855
7.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
8.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med
; 384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34161705
9.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
10.
Conformational fingerprinting with Raman spectroscopy reveals protein structure as a translational biomarker of muscle pathology.
Analyst
; 149(9): 2738-2746, 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38533726
11.
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
Mol Cell
; 63(4): 621-632, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499296
12.
Leigh syndrome: an adult presentation of a paediatric disease.
Pract Neurol
; 24(1): 45-50, 2024 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567761
13.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Am J Hum Genet
; 106(1): 92-101, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31866046
14.
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Am J Hum Genet
; 106(2): 272-279, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004445
15.
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Mol Genet Metab
; 140(3): 107657, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523899
16.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Ann Neurol
; 91(1): 117-130, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716721
17.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
18.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
19.
Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.
Neuropathol Appl Neurobiol
; 48(6): e12833, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790454
20.
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.
Am J Med Genet A
; 188(9): 2783-2789, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616428