Detalhe da pesquisa
1.
Type I Alexander disease: Update and validation of the clinical evolution-based classification.
Mol Genet Metab
; 138(3): 107540, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36804850
2.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Mol Genet Metab
; 135(1): 109-113, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969638
3.
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
Mol Genet Metab
; 134(4): 353-358, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34865968
4.
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
J Hum Genet
; 66(10): 1035-1037, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33785861
5.
Ruxolitinib in Aicardi-Goutières syndrome.
Metab Brain Dis
; 36(5): 859-863, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721182
6.
Comprehensive analysis of HPV infection, EGFR exon 20 mutations and LINE1 hypomethylation as risk factors for malignant transformation of sinonasal-inverted papilloma to squamous cell carcinoma.
Int J Cancer
; 144(6): 1313-1320, 2019 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30411788
7.
Impact of COVID-19 lockdown in children with neurological disorders in Italy.
Disabil Health J
; 14(2): 101053, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33358228