Detalhe da pesquisa
1.
Short- vs long-term assessment of heart rate variability: Clinical significance in Dravet Syndrome.
Epilepsy Behav
; 146: 109357, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37499580
2.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
J Med Genet
; 59(2): 189-195, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361104
3.
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
J Med Genet
; 58(7): 475-483, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737135
4.
A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.
Neurol Sci
; 42(11): 4759-4765, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34292449
5.
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.
BMC Med Genet
; 20(1): 40, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30866851
6.
Childhood Trauma and Self-harm in Youths with Bipolar Disorders.
Curr Neuropharmacol
; 22(1): 152-158, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788693
7.
Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Epilepsia Open
; 9(1): 258-267, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943120
8.
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Genes (Basel)
; 14(2)2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833170
9.
Specific Learning Disorders (SLD) and Behavior Impairment: Comorbidity or Specific Profile?
Children (Basel)
; 10(8)2023 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628355
10.
Visual Function in Children with GNAO1-Related Encephalopathy.
Genes (Basel)
; 14(3)2023 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980817
11.
A systematic review on gender dysphoria in adolescents and young adults: focus on suicidal and self-harming ideation and behaviours.
Child Adolesc Psychiatry Ment Health
; 17(1): 110, 2023 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37735422
12.
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.
Children (Basel)
; 10(9)2023 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761412
13.
Outpatient care for adolescents' and young adults' mental health: promoting self- and others' understanding through a metacognitive interpersonal therapy-informed psychological intervention.
Front Psychiatry
; 14: 1221158, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38025443
14.
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
Pediatr Neurol
; 132: 45-49, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636282
15.
Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation.
Epilepsy Behav Rep
; 18: 100531, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35356746
16.
Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk.
Seizure
; 94: 129-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34896816
17.
Cortical Visual Impairment in CDKL5 Deficiency Disorder.
Front Neurol
; 12: 805745, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35153983
18.
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Genes (Basel)
; 12(9)2021 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573299
19.
Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case.
Epilepsia
; 50(7): 1810-5, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19486360
20.
Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy.
Seizure
; 105: 14-16, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645998