Detalhe da pesquisa
1.
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Epilepsia
; 65(3): 709-724, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231304
2.
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Genet Med
; 25(2): 100333, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480001
3.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
4.
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.
Mol Genet Metab Rep
; 39: 101078, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38571879
5.
Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.
J Clin Pathol
; 75(1): 34-38, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115810
6.
Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.
Hum Mutat
; 36(5): 569-71, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25764011
7.
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Mol Genet Metab Rep
; 24: 100629, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32742935
8.
The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa.
Semin Pediatr Neurol
; 26: 10-14, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961494
9.
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
10.
Could we offer mitochondrial donation or similar assisted reproductive technology to South African patients with mitochondrial DNA disease?
S Afr Med J
; 106(3): 234-6, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915934
11.
The usefulness of electroencephalograms in a survey of children from the Western cape of South Africa.
J Child Neurol
; 27(5): 625-31, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22114217
12.
Impact of withdrawal of Ritalin LA in the Western Cape.
S Afr Med J
; 98(8): 570, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18928026