Detalhe da pesquisa
1.
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.
Development
; 148(16)2021 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338282
2.
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Neurogenetics
; 13(4): 327-32, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22847149
3.
Direct correlation between the facial nerve nucleus and hemifacial seizures associated with a gangliocytoma of the floor of the fourth ventricle: a case report.
Epilepsia
; 52(12): e204-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22050334
4.
Short-latency somatosensory-evoked potentials demonstrate cortical dysfunction in patients with Angelman syndrome.
eNeurologicalSci
; 22: 100298, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313428
5.
Variance in the pathophysiological impact of the hemizygosity of gamma-aminobutyric acid type A receptor subunit genes between Prader-Willi syndrome and Angelman syndrome.
Brain Dev
; 43(4): 521-527, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33419637
6.
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Brain Dev
; 43(2): 214-219, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32798077
7.
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey.
Mol Genet Metab Rep
; 20: 100496, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31372341
8.
[(11)C]flumazenil positron emission tomography analyses of brain gamma-aminobutyric acid type A receptors in Angelman syndrome.
J Pediatr
; 152(4): 546-9, 549.e1-3, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18346513
9.
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
Brain Dev
; 40(3): 226-228, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269014
10.
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.
Mol Genet Metab Rep
; 15: 55-63, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29552494
11.
Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome.
Brain Dev
; 29(8): 529-33, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17383838
12.
Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA).
Epilepsy Behav Case Rep
; 8: 44-46, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856097
13.
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP.
Brain Dev
; 28(2): 131-3, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16168593
14.
Dynamic statistical parametric mapping for analyzing the magnetoencephalographic epileptiform activity in patients with epilepsy.
J Child Neurol
; 20(4): 363-9, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15921240
15.
Vaccine-associated paralytic poliomyelitis in a non-immunocompromised infant.
Pediatr Int
; 52(5): 838-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20880307
16.
The presence of short and sharp MEG spikes implies focal cortical dysplasia.
Epilepsy Res
; 114: 141-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26088897
17.
Magnetoencephalographic analysis of paroxysmal fast activity in patients with epileptic spasms.
Epilepsy Res
; 104(1-2): 68-77, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23041289
18.
Inflammatory changes in infantile-onset LMNA-associated myopathy.
Neuromuscul Disord
; 21(8): 563-8, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21632249
19.
MEG time-frequency analyses for pre- and post-surgical evaluation of patients with epileptic rhythmic fast activity.
Epilepsy Res
; 88(2-3): 100-7, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19896803
20.
The applications of time-frequency analyses to ictal magnetoencephalography in neocortical epilepsy.
Epilepsy Res
; 90(3): 199-206, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20605700