Detalhe da pesquisa
1.
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Hum Mutat
; 35(8): 983-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24827421
2.
Epilepsy and vaccinations: Italian guidelines.
Epilepsia
; 54 Suppl 7: 13-22, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24099052
3.
Spermatogenesis in a man with complete deletion of USP9Y.
N Engl J Med
; 360(9): 881-5, 2009 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-19246359
4.
HLA-DQ typing in the diagnostic algorithm of celiac disease.
Rev Esp Enferm Dig
; 104(5): 248-54, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22662777
5.
Circulating levels of allopregnanolone, a neuroactive steroid, and leptin during treatment with valproic acid in children with epilepsy.
Neuroendocrinology
; 93(3): 159-64, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20980729
6.
Quantitative ultrasound and dual-energy x-ray absorptiometry in children and adolescents with neurofibromatosis of type 1.
J Clin Densitom
; 13(1): 77-83, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20171569
7.
Bathing epilepsy: report of two Caucasian cases.
Epileptic Disord
; 12(1): 88-90, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20185394
8.
Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy.
Ann Pharmacother
; 43(1): 45-50, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19066323
9.
Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy.
Neurol Sci
; 30(4): 319-23, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19533284
10.
Private inherited microdeletion/microduplications: implications in clinical practice.
Eur J Med Genet
; 51(5): 409-16, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18657637
11.
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
Am J Med Genet A
; 146A(15): 1994-8, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18627055
12.
A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood.
Epilepsy Res
; 81(1): 80-5, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18524542
13.
Topiramate effects on plasma serotonin levels in children with epilepsy.
Epilepsy Res
; 81(2-3): 148-54, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18603411
14.
Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.
Epilepsy Res
; 79(1): 63-70, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18280703
15.
Late-onset childhood occipital epilepsy (Gastaut type): a family study.
Eur J Paediatr Neurol
; 12(5): 421-6, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18249143
16.
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress.
Brain Dev
; 30(6): 391-5, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18180123
17.
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
Hum Mutat
; 28(1): 92-6, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16977596
18.
Photoparoxysmal responses in children with chromosomal aberrations.
Epilepsy Res
; 72(2-3): 164-70, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16987638
19.
Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization.
Epilepsy Res
; 66(1-3): 13-21, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16115749
20.
Post-ictal circulating levels of allopregnanolone in children with partial or generalized seizures.
Epilepsy Res
; 63(2-3): 97-102, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15725389