Detalhe da pesquisa
1.
Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up.
Doc Ophthalmol
; 144(1): 53-65, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491492
2.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
3.
Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with cerliponase alpha: case report.
Doc Ophthalmol
; 143(1): 99-106, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956290
4.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
J Med Genet
; 57(6): 389-399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015000
5.
Felbamate for infantile spasms syndrome resistant to first-line treatments.
Dev Med Child Neurol
; 62(5): 581-586, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31850517
6.
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dev Med Child Neurol
; 62(4): 528-530, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31489614
7.
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Am J Med Genet A
; 173(7): 1936-1942, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28440900
8.
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.
Eur J Paediatr Neurol
; 48: 61-66, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041897
9.
Focal epilepsy due to de novo SCN1A mutation.
Epileptic Disord
; 23(3): 459-465, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34106054
10.
Severe Phenotype in Patients with Large Deletions of NF1.
Cancers (Basel)
; 13(12)2021 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34199217
11.
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Eur J Hum Genet
; 28(10): 1403-1413, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467598
12.
Medication overuse headache in school-aged children: more common than expected?
Headache
; 53(2): 387-8, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23432448
13.
Early identification of epileptic encephalopathy with continuous spikes-and-waves during sleep: A case-control study.
Eur J Paediatr Neurol
; 22(5): 837-844, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739701
14.
Myoclonic jerks are commonly associated with absence seizures in early-onset absence epilepsy.
Epileptic Disord
; 19(2): 137-146, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540848
15.
Clinically severe Epstein-Barr virus encephalitis with mild cerebrospinal fluid abnormalities in an immunocompetent adolescent: a case report.
Diagn Microbiol Infect Dis
; 76(2): 232-4, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23535207
16.
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.
J Clin Invest
; 121(8): 3071-87, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21737879