Detalhe da pesquisa
1.
Comprehensive review of status gelasticus: Diagnostic challenges and therapeutic insights.
Epilepsy Behav
; 153: 109719, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38428176
2.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Am J Hum Genet
; 107(6): 1078-1095, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217308
3.
Neurotrophins: Expression of Brain-Lung Axis Development.
Int J Mol Sci
; 24(8)2023 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108250
4.
Treatment of multiple sclerosis in children: A brief overview.
Clin Immunol
; 237: 108947, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35123059
5.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Am J Hum Genet
; 104(4): 721-730, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929742
6.
PHF21A Related Disorder: Description of a New Case.
Int J Mol Sci
; 23(24)2022 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555772
7.
Potential benefits of melatonin to control pain in ventilated preterm newborns: An updated review.
Pain Pract
; 22(2): 248-254, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431588
8.
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.
J Neurogenet
; 35(2): 67-73, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33821742
9.
Oxidative Stress and Respiratory Diseases in Preterm Newborns.
Int J Mol Sci
; 22(22)2021 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830385
10.
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
Int J Mol Sci
; 22(9)2021 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922911
11.
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
J Neurogenet
; 32(4): 316-321, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29989513
12.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain
; 140(4): 940-952, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334956
13.
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities.
Am J Med Genet C Semin Med Genet
; 172(3): 288-95, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519909
14.
The semiology of psychogenic nonepileptic seizures revisited: Can video alone predict the diagnosis? Preliminary data from a prospective feasibility study.
Epilepsia
; 57(5): 777-85, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26949106
15.
Conversation analysis in the differentiation of psychogenic nonepileptic and epileptic seizures in pediatric and adolescent settings.
Epilepsy Behav
; 62: 231-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27494360
16.
Validation of a novel classification model of psychogenic nonepileptic seizures by video-EEG analysis and a machine learning approach.
Epilepsy Behav
; 60: 197-201, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208925
17.
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.
Am J Med Genet A
; 167A(9): 2042-51, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940952
18.
Oxidative stress in obesity: a critical component in human diseases.
Int J Mol Sci
; 16(1): 378-400, 2014 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25548896
19.
The Impact of Genetics on Cognition: Insights into Cognitive Disorders and Single Nucleotide Polymorphisms.
J Pers Med
; 14(2)2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38392589
20.
Emotional and Behavioural Factors Predisposing to Internet Addiction: The Smartphone Distraction among Italian High School Students.
Int J Environ Res Public Health
; 21(4)2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673299