Detalhe da pesquisa
1.
Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.
Neuropediatrics
; 51(4): 298-301, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32143223
2.
Endoscopic lithotripsy for upper urinary tract stones in disabled adolescents.
Pediatr Int
; 64(1): e14731, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708892
3.
SAD-B kinase regulates pre-synaptic vesicular dynamics at hippocampal Schaffer collateral synapses and affects contextual fear memory.
J Neurochem
; 136(1): 36-47, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26444684
4.
Enhanced long-term potentiation in mature rats in a model of epileptic spasms with betamethasone-priming and postnatal N-methyl-D-aspartate administration.
Epilepsia
; 57(3): 495-505, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26792416
5.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025547
6.
[An 8-year-old boy with anti-NMDA receptor encephalitis, successfully treated with cyclophosphamide].
No To Hattatsu
; 45(1): 53-7, 2013 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-23593747
7.
Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy.
Brain Dev
; 45(8): 462-466, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453880
8.
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Front Neurol
; 14: 1085228, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37251230
9.
Acute encephalopathy in children with Dravet syndrome.
Epilepsia
; 53(1): 79-86, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22092154
10.
Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.
J Med Genet
; 48(9): 606-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21415082
11.
[Clinical characteristics of acute encephalopathies associated with influenza H1N1-2009 in children].
No To Hattatsu
; 44(1): 35-40, 2012 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-22352028
12.
Elevation of brain gamma-aminobutyric acid levels is associated with vigabatrin-associated brain abnormalities on magnetic resonance imaging.
Epilepsy Res
; 181: 106881, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35183975
13.
Synthesis and anti-human immunodeficiency virus activity of the skeleton isomers of 3',4'-Di-(O)-(-)-camphanoyl-(+)-khellactone.
Chem Pharm Bull (Tokyo)
; 59(8): 1075-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21804260
14.
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
Brain Dev
; 43(3): 402-410, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33261925
15.
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
J Inherit Metab Dis
; 33(1): 85-90, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052547
16.
Expanding the phenotype of COL4A1-related disorders-Four novel variants.
Brain Dev
; 42(9): 639-645, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32565002
17.
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
Epilepsy Behav Rep
; 13: 100349, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879735
18.
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report.
JIMD Rep
; 43: 7-12, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478219
19.
Discordant phenotype caused by CASK mutation in siblings with NF1.
Hum Genome Var
; 6: 20, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31044082
20.
Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan.
Brain Dev
; 40(7): 558-565, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29636207