Detalhe da pesquisa
1.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
2.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Brain
; 147(6): 1967-1974, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38478578
3.
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Am J Hum Genet
; 103(4): 592-601, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245030
4.
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
5.
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
6.
Diagnosis of 'possible' mitochondrial disease: an existential crisis.
J Med Genet
; 56(3): 123-130, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30683676
7.
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 21(4): 1027, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30228318
8.
Retrospective natural history of thymidine kinase 2 deficiency.
J Med Genet
; 55(8): 515-521, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29602790
9.
The Novel Activity of Carbamazepine as an Activation Modulator Extends from NaV1.7 Mutations to the NaV1.8-S242T Mutant Channel from a Patient with Painful Diabetic Neuropathy.
Mol Pharmacol
; 94(5): 1256-1269, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30135145
10.
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 19(11): 1217-1225, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471437
11.
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
J Pediatr Gastroenterol Nutr
; 63(6): 592-597, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27482763
12.
A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA.
Pharmacol Res
; 100: 24-35, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26196248
13.
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
J Inherit Metab Dis
; 38(3): 445-57, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25352051
14.
Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.
Brain
; 137(Pt 12): 3200-12, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25281868
15.
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hum Mol Genet
; 21(12): 2768-78, 2012 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22422767
16.
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
Front Cell Dev Biol
; 12: 1260496, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38665433
17.
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.
J Thromb Haemost
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38492852
18.
Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations.
J Neurol Neurosurg Psychiatry
; 84(1): 107-10, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22933815
19.
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
Epilepsia
; 54(6): 1002-11, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23448099
20.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Brain
; 135(Pt 11): 3392-403, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23107649