Detalhe da pesquisa
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37606373
2.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Am J Hum Genet
; 98(4): 772-81, 2016 Apr 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27040692
3.
Severe hemorrhagic meningoencephalitis due to Angiostrongylus cantonensis among young children in Sydney, Australia.
Clin Infect Dis
; 57(8): 1158-61, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23843445
4.
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers.
Pediatr Neurol
; 149: 75-83, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37806042
5.
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes.
Ann Clin Transl Neurol
; 10(8): 1417-1432, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37340737
6.
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.
EBioMedicine
; 91: 104589, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37119734
7.
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
Commun Biol
; 5(1): 515, 2022 05 30.
Artigo
Inglês
| MEDLINE | ID: mdl-35637276
8.
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids.
EBioMedicine
; 84: 104280, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36174397
9.
Therapeutics for childhood neurofibromatosis type 1 and type 2.
Curr Treat Options Neurol
; 13(6): 529-43, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21850405
10.
Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma.
Ann Neurol
; 75(5): 799-800, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24740685
11.
Vaccination management in an asymptomatic child with a novel SCN1A variant and family history of status epilepticus following vaccination: A case report on a potential new direction in personalised medicine.
Seizure
; 78: 49-52, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32193085
12.
Surgical Treatment for SWS Glaucoma: Experience From a Tertiary Referral Pediatric Hospital.
J Glaucoma
; 29(12): 1132-1137, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32852376
13.
Visual field outcomes in children treated for neurofibromatosis type 1-associated optic pathway gliomas: a multicenter retrospective study.
J AAPOS
; 24(6): 349.e1-349.e5, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33221469
14.
Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Neurol Genet
; 5(6): e367, 2019 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-31872051
15.
Treatment for plexiform neurofibromas in patients with NF1.
Lancet Oncol
; 13(12): 1175-6, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23099008
16.
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Seizure
; 59: 132-140, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29852413
17.
Neurofibromatosis Type 2.
J Child Neurol
; 32(1): 9-22, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27655473
18.
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome.
Pediatrics
; 135(4): e974-84, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25802349
19.
Sturge-Weber syndrome: from the past to the present.
Eur J Paediatr Neurol
; 18(3): 257-66, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24275166
20.
Systemic therapy in neurofibromatosis type 2.
Cancer Treat Rev
; 40(7): 857-61, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24877986