Detalhe da pesquisa
1.
HECW2-related disorder in four Japanese patients.
Am J Med Genet A
; 185(10): 2895-2902, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34047014
2.
Aicardi-Goutières syndrome is caused by IFIH1 mutations.
Am J Hum Genet
; 95(1): 121-5, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24995871
3.
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Am J Med Genet A
; 185(12): 3926-3927, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245093
4.
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Rheumatology (Oxford)
; 53(3): 448-58, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24300241
5.
[A case of spinal muscular atrophy type 0 in Japan].
No To Hattatsu
; 44(5): 387-91, 2012 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-23012868
6.
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 156B(7): 799-807, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21812100
7.
Differentiation of myoclonic seizures in epileptic syndromes: a video-polygraphic study of 26 patients.
Epilepsia
; 50(6): 1525-35, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19055489
8.
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.
Brain Dev
; 41(1): 43-49, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30077507
9.
Three patients with severe bilateral frontoparietal polymicrogyria.
Pediatr Neurol
; 38(5): 353-6, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18410852
10.
[Clinical and EEG studies of symptomatic focal epilepsy in 7 patients with colpocephaly].
No To Hattatsu
; 40(3): 244-8, 2008 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-18524261
11.
[Clinical study on temporal lobe epilepsy in childhood caused by temporal lobe space-occupying lesions].
No To Hattatsu
; 40(3): 249-54, 2008 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-18524262
12.
Extremely low-dose ACTH step-up protocol for West syndrome: maximum therapeutic effect with minimal side effects.
Brain Dev
; 28(1): 8-13, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15925463
13.
TRH therapy in a patient with juvenile Alexander disease.
Brain Dev
; 28(10): 663-7, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16774812
14.
Zonisamide for West syndrome: a comparison of clinical responses among different titration rate.
Brain Dev
; 27(4): 286-90, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15862192
15.
Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan.
Brain Dev
; 27(4): 311-7, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15862198
16.
[Clinical and electroencephalogram study of 5 children with hypothalamic hamartoma].
No To Hattatsu
; 37(5): 387-93, 2005 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-16164244
17.
Analysis of photo-pattern sensitivity in patients with Pokemon-related symptoms.
Pediatr Neurol
; 28(1): 28-36, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12657417
18.
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients.
Adv Neurol
; 95: 157-74, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-15508921
19.
Two cases of precocious puberty associated with hypothalamic hamartoma.
Clin Pediatr Endocrinol
; 19(2): 31-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23926376
20.
Neurobehavioral abnormalities may correlate with increased seizure burden in children with Panayiotopoulos syndrome.
Pediatr Neurol
; 40(6): 443-8, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19433278