Detalhe da pesquisa
1.
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Genet Med
; 20(9): 965-975, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300384
2.
Neurovisual Assessment in Children with Ataxia Telangiectasia.
Neuropediatrics
; 49(1): 26-34, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28992644
3.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Genet Med
; 19(6): 691-700, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27831545
4.
"Minimal" holoprosencephaly in a 14q deletion syndrome patient.
Am J Med Genet A
; 173(12): 3216-3220, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29136354
5.
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Epilepsia
; 57(11): 1808-1816, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27762437
6.
17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.
Am J Med Genet A
; 164A(1): 225-30, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24501763
7.
Non-epileptic myoclonic attacks in infancy: three cases.
Epileptic Disord
; 16(4): 433-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25498312
8.
Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic neuropathy, case reports: what to do and when?
Ital J Pediatr
; 49(1): 157, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012680
9.
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort.
Front Pediatr
; 10: 892445, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35601411
10.
Combined medical therapy and neurosurgical revascularization preventing stroke in post-varicella angiopathy: Case report and review of literature.
Brain Dev
; 43(10): 1051-1056, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34332825
11.
Long-term follow-up in infantile-onset SCAR18: A case report.
J Clin Neurosci
; 77: 232-234, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387255
12.
Mowat-Wilson syndrome: growth charts.
Orphanet J Rare Dis
; 15(1): 151, 2020 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32539836
13.
Status dystonicus: management and prevention in children at high risk.
Acta Biomed
; 90(3): 207-212, 2019 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31580306
14.
KCNQ2 encephalopathy: A case due to a de novo deletion.
Brain Dev
; 40(1): 65-68, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728838
15.
Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization.
Seizure
; 94: 161-164, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915349
16.
Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.
Brain Dev
; 39(2): 93-100, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884548
17.
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Parkinsonism Relat Disord
; 41: 37-43, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28511835
18.
CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature.
Eur J Paediatr Neurol
; 20(1): 168-75, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26621312
19.
Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.
Eur J Paediatr Neurol
; 20(3): 454-6, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26876767
20.
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
Mol Syndromol
; 7(6): 337-343, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27920637