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.
Progress in mitochondrial replacement therapies.
Nat Rev Mol Cell Biol
; 19(2): 71-72, 2018 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358685
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.
Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.
Hum Mol Genet
; 31(23): 4075-4086, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35849052
5.
Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia.
Mol Cell
; 62(1): 5-6, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058784
6.
Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.
Hum Mol Genet
; 30(R2): R245-R253, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169319
7.
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
8.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
9.
A subcellular cookie cutter for spatial genomics in human tissue.
Anal Bioanal Chem
; 414(18): 5483-5492, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35233697
10.
Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease.
Mol Ther
; 28(8): 1846-1857, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32416058
11.
Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.
Nucleic Acids Res
; 47(14): 7430-7443, 2019 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31147703
12.
Investigation of mitochondrial biogenesis defects in single substantia nigra neurons using post-mortem human tissues.
Neurobiol Dis
; 134: 104631, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31689514
13.
Recent Advances in Mitochondrial Disease.
Annu Rev Genomics Hum Genet
; 18: 257-275, 2017 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28415858
14.
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
15.
Mitochondrial morphology and function: two for the price of one!
J Microsc
; 278(2): 89-106, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277765
16.
Lower urinary tract dysfunction in adult patients with mitochondrial disease.
Neurourol Urodyn
; 39(8): 2253-2263, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969525
17.
The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.
Brain
; 142(2): 391-411, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689758
18.
Distinctive Features of Orbital Adipose Tissue (OAT) in Graves' Orbitopathy.
Int J Mol Sci
; 21(23)2020 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33266331
19.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Ann Neurol
; 83(1): 115-130, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283441
20.
Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.
Ann Neurol
; 84(2): 289-301, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014514