Detalhe da pesquisa
1.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Ann Neurol
; 94(4): 696-712, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37255483
2.
IUPHAR ECR review: Cancer-related anorexia-cachexia in cancer patients: Pathophysiology and treatment.
Pharmacol Res
; 203: 107129, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461961
3.
Gene therapy for mitochondrial disorders.
J Inherit Metab Dis
; 47(1): 145-175, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38171948
4.
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
5.
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
Am J Hum Genet
; 106(2): 256-263, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32004446
6.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med
; 25(2): 100332, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36520152
7.
Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.
J Inherit Metab Dis
; 46(2): 243-260, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502462
8.
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
9.
Biparental inheritance of mitochondrial DNA revisited.
Nat Rev Genet
; 22(8): 477-478, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031572
10.
Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.
J Inherit Metab Dis
; 44(2): 343-357, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33016339
11.
Moving towards clinical trials for mitochondrial diseases.
J Inherit Metab Dis
; 44(1): 22-41, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618366
12.
An international classification of inherited metabolic disorders (ICIMD).
J Inherit Metab Dis
; 44(1): 164-177, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340416
13.
Cardiac valve involvement in ADAR-related type I interferonopathy.
J Med Genet
; 57(7): 475-478, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772029
14.
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Genet Med
; 22(1): 199-209, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462754
15.
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
J Inherit Metab Dis
; 43(4): 726-736, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391929
16.
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
17.
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
J Med Genet
; 56(3): 123-130, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683676
18.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Hum Mutat
; 40(10): 1731-1748, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045291
19.
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.
Hum Genet
; 138(11-12): 1313-1322, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31673819
20.
Mitochondrial medicine in the omics era.
Lancet
; 391(10139): 2560-2574, 2018 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29903433