Detalhe da pesquisa
1.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
2.
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.
Epilepsy Behav
; 152: 109670, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335860
3.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
4.
The impact of a newly established specialized pediatric epilepsy center in Tanzania: An observational study.
Epilepsy Behav
; 148: 109454, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776594
5.
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications.
Mol Genet Metab
; 135(1): 3-14, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34996714
6.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713950
7.
Acute ischemic stroke in childhood: a comprehensive review.
Eur J Pediatr
; 181(1): 45-58, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34327611
8.
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
Mol Genet Metab
; 134(1-2): 147-155, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34479793
9.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
10.
Management of Neurological Emergencies in Children: An Updated Overview.
Neuropediatrics
; 52(4): 242-251, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34192789
11.
TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis.
Neuropediatrics
; 52(2): 146-149, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578443
12.
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
Metab Brain Dis
; 36(1): 29-43, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33095372
13.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
14.
PRICKLE1-related early onset epileptic encephalopathy.
Am J Med Genet A
; 176(12): 2841-2845, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345727
15.
Sudden unexpected death in epilepsy: The need for age-specific evidence-based prevention.
Dev Med Child Neurol
; 65(9): 1134-1135, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36812063
16.
Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.
Metab Brain Dis
; 33(1): 261-269, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178011
17.
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
Mol Genet Metab
; 122(1-2): 135-142, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818555
18.
Lennox-Gastaut Syndrome: A State of the Art Review.
Neuropediatrics
; 48(3): 143-151, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28346953
19.
Contemporary onset of atypical chronic inflammatory demyelinating polyradiculoneuropathy and type 1 diabetes in an adolescent.
Diabet Med
; 38(10): e14563, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772868
20.
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.
Mol Genet Metab
; 116(3): 171-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283467