Detalhe da pesquisa
1.
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.
Epilepsia
; 65(3): 779-791, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088023
2.
Long-term effectiveness of add-on perampanel in patients with Lennox-Gastaut syndrome: A multicenter retrospective study.
Epilepsia
; 64(6): e98-e104, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000415
3.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
4.
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Neuropediatrics
; 54(6): 433-438, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802085
5.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Epilepsia
; 61(5): 995-1007, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32469098
6.
Long term neurocognitive improvement after "late" right hemispherectomy: case report and review of the literature.
Childs Nerv Syst
; 34(8): 1599-1603, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564536
7.
Sleep in children with attention-deficit/hyperactivity disorder (ADHD) before and after 6-month treatment with methylphenidate: a pilot study.
Eur J Pediatr
; 175(5): 695-704, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833051
8.
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.
PLoS Genet
; 7(7): e1002173, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21779178
9.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355961
10.
Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion.
Epilepsia
; 54(5): e69-73, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23448223
11.
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Eur J Hum Genet
; 31(9): 1023-1031, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344571
12.
A nationwide study on Sydenham's chorea: Clinical features, treatment and prognostic factors.
Eur J Paediatr Neurol
; 36: 1-6, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34768201
13.
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Ital J Pediatr
; 46(1): 92, 2020 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32631363
14.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565641
15.
A relatively mild phenotype associated with mutation of SCN8A.
Seizure
; 56: 47-49, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432985
16.
Verbal dichotic listening and manual performance in children with congenital unilateral brain lesions.
Neuropsychology
; 18(4): 748-55, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15506843
17.
Cognitive evolution of a girl submitted to right hemispherotomy when five years old.
Brain Dev
; 32(7): 579-82, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19716245
18.
Oligoyric microcephaly in a child with Williams syndrome.
Am J Med Genet A
; 117A(2): 169-71, 2003 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12567416