Detalhe da pesquisa
1.
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Am J Hum Genet
; 93(3): 496-505, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993195
2.
Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis.
Pediatr Int
; 57(3): 339-47, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851792
3.
Canavan disease: clinical features and recent advances in research.
Pediatr Int
; 56(4): 477-83, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24977939
4.
Eculizumab in Adolescent Patients With Refractory Generalized Myasthenia Gravis: A Phase 3, Open-Label, Multicenter Study.
Pediatr Neurol
; 156: 198-207, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38810600
5.
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Am J Hum Genet
; 86(6): 881-91, 2010 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20493457
6.
Mutations of the SCN1A gene in acute encephalopathy.
Epilepsia
; 53(3): 558-64, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22309220
7.
Acute encephalopathy and tubulointerstitial nephritis associated with Yersinia pseudotuberculosis.
Pediatr Int
; 54(6): 926-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23279023
8.
A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings.
Brain Dev
; 44(10): 699-705, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945102
9.
Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series.
Epilepsia Open
; 6(2): 402-412, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095686
10.
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Epilepsia
; 51(12): 2397-405, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20887364
11.
Changes in thioredoxin concentrations: an observation in an ultra-marathon race.
Environ Health Prev Med
; 15(3): 129-34, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19960374
12.
[Long term clinical course of Canavan disease--a rare Japanese case].
No To Hattatsu
; 41(5): 353-6, 2009 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-19764455
13.
[Early and serial electrodiagnostic findings in childhood Guillain-Barré syndrome].
No To Hattatsu
; 40(6): 460-4, 2008 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-19039987
14.
Changes in blood biochemical markers before, during, and after a 2-day ultramarathon.
Open Access J Sports Med
; 7: 43-50, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27186145
15.
Activation of peroxisome proliferator-activated receptor-gamma stimulates the growth arrest and DNA-damage inducible 153 gene in non-small cell lung carcinoma cells.
Oncogene
; 21(14): 2171-80, 2002 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-11948400
16.
The prognostic and therapeutic relevance of p27kip1 in Ewing's family tumors.
Clin Cancer Res
; 10(3): 1003-12, 2004 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14871979
17.
Ramosetron as a Treatment for Cyclic Vomiting Syndrome: A Small-Scale Patient Trial.
Glob Pediatr Health
; 7: 2333794X20969281, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33225023
18.
Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.
Brain Dev
; 37(9): 894-6, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25687202
19.
Langerhans cell histiocytosis with disequilibrium.
Auris Nasus Larynx
; 39(6): 627-30, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22326120
20.
Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children.
Brain Dev
; 34(1): 20-7, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21277129