Detalhe da pesquisa
1.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
2.
Epileptic spasms: A South African overview of aetiologies, interventions, and outcomes.
Dev Med Child Neurol
; 65(4): 526-533, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36229895
3.
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
4.
Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect.
Pediatr Neurol
; 144: 16-18, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37116404
5.
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Front Neurol
; 14: 1239725, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712079
6.
A case for genomic medicine in South African paediatric patients with neuromuscular disease.
Front Pediatr
; 10: 1033299, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36467485
7.
Electroclinical markers to differentiate between focal and generalized epilepsies.
Epileptic Disord
; 23(3): 437-458, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106053
8.
Developmental and epileptic encephalopathies: recognition and approaches to care.
Epileptic Disord
; 23(1): 40-52, 2021 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33632673
9.
Epileptic spasms: Evidence for oral corticosteroids and implications for low and middle income countries.
Seizure
; 59: 90-98, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29787923