Detalhe da pesquisa
1.
Eating disorders in young patients with neurofibromatosis type 1.
J Paediatr Child Health
; 59(5): 723-728, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789625
2.
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Clin Genet
; 101(2): 260-264, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34766628
3.
Hemiplegic-Migraine-like Attacks as First Manifestation of Diffuse Leptomeningeal Glioneuronal Tumor: A Case Report.
J Pediatr Hematol Oncol
; 44(3): e765-e769, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34486545
4.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Am J Med Genet A
; 185(1): 15-25, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33029936
5.
Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals.
Epilepsy Behav
; 124: 108315, 2021 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34619538
6.
New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.
Am J Med Genet A
; 170A(1): 162-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333654
7.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475597
8.
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Neuropediatrics
; 45(3): 175-82, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24407470
9.
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.
Front Neurol
; 13: 920214, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35756920
10.
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.
Dev Med Child Neurol
; 53(10): 958-61, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21592092
11.
Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates.
Clin Neurophysiol
; 132(4): 886-903, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33684728
12.
Epilepsy in Mowat-Wilson syndrome: is it a matter of GABA?
Epilepsia
; 54(7): 1331-2, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23815573
13.
Sensorial saturation for neonatal analgesia.
Clin J Pain
; 23(3): 219-21, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17314580
14.
Psychotic episode during steroid therapy in hashimoto encephalopathy.
J Neuropsychiatry Clin Neurosci
; 24(1): E45-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22450647
15.
Inter-observer reliability of two pain scales for newborns.
Early Hum Dev
; 83(8): 549-52, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17161923
16.
Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
Eur J Anaesthesiol
; 28(10): 748-9, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21372719
17.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27571260
18.
Life-threatening complications of posterior reversible encephalopathy syndrome in children.
Eur J Paediatr Neurol
; 18(5): 632-40, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24814477
19.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 49(2): 317, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138155
20.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Nat Genet
; 44(3): 338-42, 2012 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22267198