Detalhe da pesquisa
1.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
2.
Research priorities for mitochondrial disorders: Current landscape and patient and professional views.
J Inherit Metab Dis
; 45(4): 796-803, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543492
3.
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
4.
Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
Ann Neurol
; 80(5): 686-692, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453452
5.
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Ann Neurol
; 77(5): 753-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652200
6.
Mitochondrial donation: from test tube to clinic.
Lancet
; 392(10154): 1191-1192, 2018 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30319102
7.
The Rheumatoid Arthritis and MUScle (RAMUS) Study: Protocol for an observational single-arm study of skeletal muscle in patients with rheumatoid arthritis receiving tofacitinib.
J Frailty Sarcopenia Falls
; 8(1): 53-59, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873822
8.
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.
J Clin Endocrinol Metab
; 104(6): 2057-2066, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423112
9.
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
EMBO Mol Med
; 10(6)2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735722
10.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
EBioMedicine
; 30: 86-93, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29506874
11.
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Sci Rep
; 6: 30610, 2016 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506553
12.
A national perspective on prenatal testing for mitochondrial disease.
Eur J Hum Genet
; 22(11): 1255-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24642831