Detalhe da pesquisa
1.
Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet
; 31(24): 4131-4142, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861666
2.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459409
3.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Clin Genet
; 99(3): 462-474, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368194
4.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Brain
; 143(12): 3564-3573, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242881
5.
Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.
Int J Mol Sci
; 18(3)2017 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28287497
6.
Autism Spectrum Disorder with Epilepsy: A Research Protocol for a Clinical and Genetic Study.
Genes (Basel)
; 15(1)2023 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38254951
7.
Economic Evaluation of anti-epileptic Medicines for Autistic Children with Epilepsy.
J Autism Dev Disord
; 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142904
8.
Economic analysis of early intervention for autistic children: findings from four case studies in England, Ireland, Italy, and Spain.
Eur Psychiatry
; 66(1): e76, 2023 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37732502
9.
Autism with co-occurring epilepsy care pathway in Europe.
Eur Psychiatry
; 66(1): e61, 2023 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37470323
10.
Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey.
Children (Basel)
; 10(9)2023 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761403
11.
Autism care pathway in Europe.
Eur Psychiatry
; 66(1): e81, 2023 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37694810
12.
Autism with Epilepsy: A Neuropsychopharmacology Update.
Genes (Basel)
; 13(10)2022 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292706
13.
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder.
Genes (Basel)
; 13(4)2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456494
14.
Breathing Abnormalities During Sleep and Wakefulness in Rett Syndrome: Clinical Relevance and Paradoxical Relationship With Circulating Pro-oxidant Markers.
Front Neurol
; 13: 833239, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35422749
15.
Excitation/Inhibition Modulators in Autism Spectrum Disorder: Current Clinical Research.
Front Neurosci
; 15: 753274, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34916897
16.
Neurodevelopmental Disorders and Adaptive Functions: A Study of Children With Autism Spectrum Disorders (ASD) and/or Attention Deficit and Hyperactivity Disorder (ADHD).
Front Psychiatry
; 10: 673, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31551839
17.
Exploring Self-Consciousness From Self- and Other-Image Recognition in the Mirror: Concepts and Evaluation.
Front Psychol
; 10: 719, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31133909
18.
Private inherited microdeletion/microduplications: implications in clinical practice.
Eur J Med Genet
; 51(5): 409-16, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18657637
19.
Relationships Between Self-Injurious Behaviors, Pain Reactivity, and ß-Endorphin in Children and Adolescents With Autism.
J Clin Psychiatry
; 79(2)2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29617065
20.
Tics and Tourette syndrome in autism spectrum disorders.
Autism
; 11(1): 19-28, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17175571