Detalhe da pesquisa
1.
Epilepsy in dystrophinopathies: A retrospective cohort and review of the literature.
Epilepsy Behav
; 151: 109595, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181535
2.
Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration.
Int J Neurosci
; : 1-6, 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37099669
3.
MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia.
Mol Genet Genomics
; 297(4): 1141-1150, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35704118
4.
Headache in idiopathic/genetic epilepsy: Cluster analysis in a large cohort.
Epilepsia
; 63(6): 1516-1529, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35188224
5.
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
Neurocase
; 28(1): 37-41, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35188090
6.
A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).
Int J Audiol
; 61(3): 258-264, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983862
7.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
8.
Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3.
Epilepsia
; 62(12): 3029-3041, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34693520
9.
Panayiotopoulos syndrome and Gastaut syndrome are distinct entities in terms of neuropsychological findings.
Epilepsy Behav
; 99: 106447, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31398558
10.
Non-convulsive status epilepticus in two patients with tuberous sclerosis.
Childs Nerv Syst
; 35(12): 2405-2409, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31659482
11.
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.
Neurol Neurochir Pol
; 53(6): 476-483, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804703
12.
Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures.
Epilepsia
; 59(6): 1188-1197, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727013
13.
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
Neurol Sci
; 39(12): 2123-2128, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209698
14.
DBS in pediatric patients: institutional experience.
Childs Nerv Syst
; 34(9): 1771-1776, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797064
15.
A case with CMTX1 disease showing transient ischemic-attack-like episodes.
Neurol Neurochir Pol
; 52(2): 285-288, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29153916
16.
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.
Am J Hum Genet
; 95(3): 315-25, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25175347
17.
Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.
Lancet
; 388(10056): 2153-2163, 2016 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27613521
18.
The relationship between Willis-Ekbom disease and serum ferritin levels among children in Northwestern Turkey.
Neurosciences (Riyadh)
; 20(4): 336-40, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26492111
19.
Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.
Neuropediatrics
; 45(5): 309-13, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24875585
20.
Exome data of developmental and epileptic encephalopathy patients reveals de novo and inherited pathologic variants in epilepsy-associated genes.
Seizure
; 116: 51-64, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353388