Detalhe da pesquisa
1.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753057
2.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
3.
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease.
Eur J Neurol
; 31(5): e16216, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247216
4.
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry.
Eur J Neurol
; 30(2): 399-412, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303290
5.
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Brain
; 145(2): 542-554, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927673
6.
Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance.
J Med Ethics
; 2023 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339848
7.
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Ann Neurol
; 89(6): 1240-1247, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704825
8.
Advances in methods to analyse cardiolipin and their clinical applications.
Trends Analyt Chem
; 157: 116808, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36751553
9.
Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications.
Nat Rev Genet
; 22(9): 547-548, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050335
10.
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Hum Mol Genet
; 28(16): 2711-2719, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31039582
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.
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Mol Biol Rep
; 48(3): 2093-2104, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742325
13.
Use of Twitter in Neurology: Boon or Bane?
J Med Internet Res
; 23(5): e25229, 2021 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988522
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.
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
16.
Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports.
BMC Nephrol
; 21(1): 361, 2020 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32838736
17.
Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines.
Neuromodulation
; 23(7): 991-995, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828902
18.
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
19.
Drug repurposing in neurological diseases: an integrated approach to reduce trial and error.
J Neurol Neurosurg Psychiatry
; 90(11): 1270-1275, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171583
20.
Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria.
Proc Natl Acad Sci U S A
; 113(30): E4276-85, 2016 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27402764