Detalhe da pesquisa
1.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
2.
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
3.
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
J Neurol Neurosurg Psychiatry
; 92(10): 1044-1052, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903184
4.
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Hum Mutat
; 41(1): 69-80, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31513310
5.
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Epilepsia
; 61(11): 2461-2473, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32954514
6.
Lessons learned from 40 novel PIGA patients and a review of the literature.
Epilepsia
; 61(6): 1142-1155, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32452540
7.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Hum Mol Genet
; 26(21): 4257-4266, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973171
8.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Brain
; 140(9): 2322-2336, 2017 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050398
9.
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
Hum Mutat
; 38(2): 216-225, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864847
10.
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.
Mol Genet Metab
; 122(1-2): 135-142, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818555
11.
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142].
Mol Genet Metab
; 125(4): 359, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29548777
12.
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up.
Eur J Med Genet
; 66(8): 104808, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37391029
13.
Deciphering the premature mortality in PIGA-CDG - An untold story.
Epilepsy Res
; 170: 106530, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508693
14.
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
J Clin Med
; 10(15)2021 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34362006
15.
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.
Neurology
; 96(9): e1319-e1333, 2021 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277420
16.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Neurology
; 92(2): e96-e107, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30541864
17.
Neuroimaging in mitochondrial disorders.
Essays Biochem
; 62(3): 409-421, 2018 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30030366
18.
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
Eur J Hum Genet
; 26(5): 695-708, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463858
19.
The phenotype of SCN8A developmental and epileptic encephalopathy.
Neurology
; 91(12): e1112-e1124, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171078
20.
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).
Data Brief
; 15: 868-875, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29379851