Detalhe da pesquisa
1.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet;
31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35604360
2.
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Epilepsia;
65(5): 1439-1450, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38491959
3.
Peer victimization and developmental psychopathology in childhood and adolescence Italian psychiatric emergency unit. A single center retrospective observational study.
Psychol Health Med;
28(8): 2147-2155, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32816557
4.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol;
90(2): 274-284, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34185323
5.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A;
188(2): 522-533, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34713950
6.
Epidemiological and Psychopharmacological Study About Off-Label Treatment in Child and Adolescent Psychiatric Emergencies: A Tertiary/Single Center Experience.
Pediatr Emerg Care;
38(11): e1660-e1663, 2022 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35686968
7.
Suicidality in adolescents with onset of anorexia nervosa.
Eat Weight Disord;
27(7): 2447-2457, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35277848
8.
Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders.
Clin Genet;
100(5): 628-633, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34415064
9.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Brain;
142(12): 3876-3891, 2019 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31688942
10.
Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study.
Epilepsia;
60(11): 2255-2262, 2019 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31630399
11.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain;
141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30351409
12.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain;
140(9): 2322-2336, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29050398
13.
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Hum Mutat;
38(2): 216-225, 2017 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27864847
14.
Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.
Am J Med Genet A;
173(4): 1119-1123, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28328131
15.
The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.
Dev Med Child Neurol;
58(1): 93-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26344814
16.
Deep Brain Stimulation of Subgenual Cingulate Region for Treatment of an Early-Onset Conversion Disorder with Psychogenic Non-Epileptic Seizures and Prolonged Catatonia: Preliminary Results in One Patient.
Stereotact Funct Neurosurg;
99(4): 363-365, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33567439
17.
Early and effective treatment of KCNQ2 encephalopathy.
Epilepsia;
56(5): 685-91, 2015 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25880994
18.
Vertical extraventricular functional hemispherotomy: a new variant for hemispheric disconnection. Technical notes and results in three patients.
Childs Nerv Syst;
31(11): 2151-60, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26099230
19.
COVID-19 pandemic impact among adolescents with eating disorders referred to Italian psychiatric unit.
J Child Adolesc Psychiatr Nurs;
37(1): e12440, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37737719
20.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology;
102(2): e207945, 2024 01 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38165337