Detalhe da pesquisa
1.
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
2.
A Case of Leukoencephalopathy and Small Vessels Disease Caused by a Novel HTRA1 Homozygous Mutation.
J Stroke Cerebrovasc Dis
; 28(11): 104354, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494012
3.
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
4.
Life-threatening parkinsonism-hyperpyrexia syndrome following bilateral deep brain stimulation of the subthalamic nucleus.
Neurol Neurochir Pol
; 52(2): 289-292, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29233537
5.
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
6.
Combined thalamic and pallidal deep brain stimulation in diabetic hemiballism/hemichorea.
Neurocirugia (Astur : Engl Ed)
; 2024 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38588801
7.
A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy.
J Neurol Neurosurg Psychiatry
; 89(10): 1123-1125, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269506
8.
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
Genes Genomics
; 45(1): 13-21, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371492
9.
Early developmental support for preterm infants based on exploratory behaviors: A parallel randomized controlled study.
Brain Behav
; 13(11): e3266, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798860
10.
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Brain Dev
; 44(6): 391-400, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379526
11.
A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
Neuromolecular Med
; 21(1): 54-59, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612247
12.
De novo 8p23.1 deletion in a patient with absence epilepsy.
Epileptic Disord
; 19(2): 217-221, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28533195
13.
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
Clin Neurol Neurosurg
; 154: 34-42, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28113101
14.
A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.
Brain Dev
; 38(8): 755-8, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27185474
15.
Atypical enterovirus encephalitis causing behavioral changes and autism-like clinical manifestations: case report.
Acta Neurol Belg
; 116(4): 679-681, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26895551