Detalhe da pesquisa
1.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 106(1): 90-94, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
2.
New insights into CC2D2A-related Joubert syndrome.
J Med Genet
; 60(6): 578-586, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36319078
3.
Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies.
Cerebellum
; 21(2): 264-279, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169400
4.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34234304
5.
Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.
Epilepsy Behav
; 96: 23-27, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077938
6.
About an Acute Ethanol Intoxication Case of an Infant.
Ther Drug Monit
; 45(1): 128, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35944136
7.
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex.
Epilepsia
; 57(4): 648-59, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26873267
8.
Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.
Radiol Med
; 121(5): 402-8, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26219723
9.
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
Epilepsia
; 56(12): 1931-40, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26514728
10.
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Hum Mutat
; 35(3): 356-67, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375629
11.
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
medRxiv
; 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562733
12.
Paroxysmal Tonic Upgaze in a Patient With Congenital Ataxia due to a De Novo Missense Variant of CACNA1G.
Pediatr Neurol
; 139: 22-23, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36508879
13.
Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.
J Child Neurol
; 38(10-12): 622-630, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37731326
14.
Musical abilities in children with developmental cerebellar anomalies.
Front Syst Neurosci
; 16: 886427, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061946
15.
Corrigendum: Musical abilities in children with developmental cerebellar anomalies.
Front Syst Neurosci
; 16: 1079004, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36438544
16.
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Eur J Paediatr Neurol
; 33: 75-85, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102571
17.
Levetiracetam-induced depression in a 5-year-old child with partial epilepsy.
Seizure
; 18(3): 235-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18848469
18.
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
Eur J Paediatr Neurol
; 23(3): 448-455, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862413
19.
Epilepsia partialis continua and defects in the mitochondrial respiratory chain.
Epilepsy Res
; 78(1): 1-6, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18022351
20.
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.
Parkinsonism Relat Disord
; 45: 85-89, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947073