Search details
1.
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
BMC Med
; 22(1): 158, 2024 Apr 15.
Article
in English
| MEDLINE | ID: mdl-38616269
2.
Neurodevelopmental Correlates of Brain Magnetic Resonance Imaging Abnormalities in Extremely Low-birth-weight Infants.
J Pediatr
; 262: 113646, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37516269
3.
Children under 6 years with acute headache in Pediatric Emergency Departments. A 2-year retrospective exploratory multicenter Italian study.
Cephalalgia
; 43(6): 3331024231164361, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37345616
4.
Clinical and psychopathological profiles of children with somatic symptom disorders in a pediatric emergency unit: an observational study before and during the SARS-CoV-2 pandemic.
Eur J Pediatr
; 182(4): 1731-1739, 2023 Apr.
Article
in English
| MEDLINE | ID: mdl-36757495
5.
Ultrastructural and Immunohistochemical Diagnosis of a Neonatal Herpes Simplex Virus Infection Presenting as Fulminant Hepatitis: A Case Report.
Adv Exp Med Biol
; 1369: 93-100, 2022.
Article
in English
| MEDLINE | ID: mdl-34302289
6.
Focal nonconvulsive status epilepticus in children: clinical and electroencephalographic features in 38 patients.
Epilepsy Behav
; 117: 107847, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33636529
7.
The Role of the Noradrenergic System in Eating Disorders: A Systematic Review.
Int J Mol Sci
; 22(20)2021 Oct 14.
Article
in English
| MEDLINE | ID: mdl-34681746
8.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32488467
9.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
FASEB J
; 33(10): 11284-11302, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31314595
10.
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
J Med Genet
; 55(11): 753-764, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30120216
11.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29300384
12.
Pediatric epilepsies misdiagnosed as gastrointestinal disorders.
Epilepsy Behav
; 83: 137-139, 2018 06.
Article
in English
| MEDLINE | ID: mdl-29705623
13.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Article
in English
| MEDLINE | ID: mdl-27831545
14.
Correction to: Ultrastructural and Immunohistochemical Diagnosis of a Neonatal Herpes Simplex Virus Infection Presenting as Fulminant Hepatitis: A Case Report.
Adv Exp Med Biol
; 1369: 129, 2022.
Article
in English
| MEDLINE | ID: mdl-34822144
15.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Article
in English
| MEDLINE | ID: mdl-24556213
16.
The involvement of the adrenergic system in feeding and eating disorders. A systematic review.
World J Biol Psychiatry
; 25(1): 1-15, 2024.
Article
in English
| MEDLINE | ID: mdl-37691603
17.
Efficacy and Safety of Pulse Intravenous Methylprednisolone in Pediatric Epileptic Encephalopathies: Timing and Networks Consideration.
J Clin Med
; 13(9)2024 Apr 24.
Article
in English
| MEDLINE | ID: mdl-38731025
18.
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Orphanet J Rare Dis
; 19(1): 107, 2024 Mar 08.
Article
in English
| MEDLINE | ID: mdl-38459574
19.
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Eur J Hum Genet
; 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38702428
20.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Eur J Hum Genet
; 32(6): 619-629, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38351292