Detalhe da pesquisa
1.
Mitochondrial Diseases: Hope for the Future.
Cell
; 181(1): 168-188, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220313
2.
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
3.
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
4.
Delineating mechanisms underlying parvalbumin neuron impairment in different neurological and neurodegenerative disorders: the emerging role of mitochondrial dysfunction.
Biochem Soc Trans
; 52(2): 553-565, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563502
5.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Eur J Neurol
; : e16275, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576261
6.
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
7.
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
8.
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
9.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
10.
Neurological Phenotypes in Mouse Models of Mitochondrial Disease and Relevance to Human Neuropathology.
Int J Mol Sci
; 24(11)2023 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298649
11.
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
12.
Rapid identification of human muscle disease with fibre optic Raman spectroscopy.
Analyst
; 147(11): 2533-2540, 2022 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545877
13.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Hum Mol Genet
; 28(2): 258-268, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285085
14.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057030
15.
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Clin Genet
; 97(2): 276-286, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600844
16.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ann Neurol
; 86(2): 310-315, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187502
17.
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.
J Inherit Metab Dis
; 43(4): 800-818, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32030781
18.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Ann Neurol
; 83(1): 115-130, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283441
19.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
20.
Mitochondrial donation--how many women could benefit?
N Engl J Med
; 372(9): 885-887, 2015 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25629662