Detalhe da pesquisa
1.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
2.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Int J Mol Sci
; 25(2)2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279250
3.
Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus.
Pharmacol Res
; 195: 106884, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549757
4.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
5.
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Neurol Sci
; 44(9): 3037-3043, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37046037
6.
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
7.
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
8.
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
9.
Ruxolitinib in Aicardi-Goutières syndrome.
Metab Brain Dis
; 36(5): 859-863, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33721182
10.
3D facial morphometry in Italian patients affected by Aicardi syndrome.
Am J Med Genet A
; 182(10): 2325-2332, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32798292
11.
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.
Neuropediatrics
; 51(4): 276-285, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620025
12.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
13.
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.
Metab Brain Dis
; 34(6): 1565-1575, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332729
14.
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain
; 140(9): 2337-2354, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050392
15.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Brain
; 140(5): 1316-1336, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28379373
16.
Neurobehavioral consequences of continuous spike and waves during slow sleep (CSWS) in a pediatric population: A pattern of developmental hindrance.
Epilepsy Behav
; 74: 1-9, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28654799
17.
PRKRA-Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum.
Mov Disord
; 36(4): 1038-1040, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606314
18.
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Epilepsia Open
; 9(1): 106-121, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37842880
19.
Educational needs and career development of young epileptologists in Italy.
Epilepsia Open
; 9(2): 613-625, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386334
20.
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring.
Front Neurol
; 15: 1376447, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38510379