Detalhe da pesquisa
1.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
J Clin Immunol
; 44(2): 60, 2024 Feb 07.
Artigo
Inglês
| MEDLINE | ID: mdl-38324161
2.
Expanding the phenotype of Brunner syndrome from childhood to adulthood: Description of the second pediatric patient and his mother.
Am J Med Genet A
; 194(1): 82-87, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37750385
3.
Fate of melatonin orally administered in preterm newborns: Antioxidant performance and basis for neuroprotection.
J Pineal Res
; 76(1): e12932, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38111174
4.
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Neuropediatrics
; 55(2): 129-134, 2024 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38365198
5.
Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome.
Clin Immunol
; 249: 109299, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36963449
6.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity.
J Med Genet
; 59(8): 781-784, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34353862
7.
Prenatal maternal stress during the COVID-19 pandemic and infant regulatory capacity at 3 months: A longitudinal study.
Dev Psychopathol
; 35(1): 35-43, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34210369
8.
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS.
Ann Rheum Dis
; 81(5): 601-613, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35086813
9.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34969638
10.
How to look for intracranial calcification in children with neurological disorders: CT, MRI, or both of them?
Neurol Sci
; 43(3): 2043-2050, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34383160
11.
Characterization of Mitochondrial Alterations in Aicardi-Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes.
Int J Mol Sci
; 23(22)2022 Nov 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36430958
12.
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.
J Clin Immunol
; 41(3): 603-609, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33411153
13.
Placental features of fetal vascular malperfusion and infant neurodevelopmental outcomes at 2 years of age in severe fetal growth restriction.
Am J Obstet Gynecol
; 225(4): 413.e1-413.e11, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33812813
14.
Ruxolitinib in Aicardi-Goutières syndrome.
Metab Brain Dis
; 36(5): 859-863, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33721182
15.
Early parenting intervention promotes 24-month psychomotor development in preterm children.
Acta Paediatr
; 110(1): 101-108, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32392381
16.
The Experience of Child Neuropsychiatry Residents who Volunteered in Italian COVID-19-Designated Hospitals.
Acad Psychiatry
; 45(5): 587-592, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-33851341
17.
Development of a neurologic severity scale for Aicardi Goutières Syndrome.
Mol Genet Metab
; 130(2): 153-160, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32279991
18.
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 182(11): 2722-2726, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32888391
19.
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.
Mol Genet Metab
; 126(4): 489-494, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30826161
20.
Ten-year experience with standardized non-operating room anesthesia with Sevoflurane for MRI in children affected by neuropsychiatric disorders.
BMC Anesthesiol
; 19(1): 235, 2019 12 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31852450