Detalhe da pesquisa
1.
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Neuropediatrics
; 52(2): 109-122, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578439
2.
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Genet Med
; 22(10): 1589-1597, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820246
3.
Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.
Neuropediatrics
; 50(2): 71-79, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30572371
4.
CAD mutations and uridine-responsive epileptic encephalopathy.
Brain
; 140(2): 279-286, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007989
5.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
EBioMedicine
; 98: 104855, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251463
6.
Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.
Nephron
; 144(3): 156-160, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31722346
7.
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.
Eur J Paediatr Neurol
; 28: 81-88, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32811771
8.
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.
Neurology
; 88(5): 483-492, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28053010