Detalhe da pesquisa
1.
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
Hum Genet
; 142(1): 59-71, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36048237
2.
Prolonged mild disturbance of consciousness and acute encephalopathy.
Pediatr Int
; 61(2): 175-179, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30554443
3.
A Simplified Electroencephalogram Monitoring System in the Emergency Room.
Pediatr Emerg Care
; 35(7): 487-492, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28072672
4.
Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval.
Am J Med Genet A
; 176(7): 1657-1661, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29736926
5.
A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.
BMC Pediatr
; 18(1): 171, 2018 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29792164
6.
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
Am J Med Genet A
; 173(1): 250-253, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27991732
7.
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
8.
Computational Study of the Rate Coefficients for the Reactions of NO2 with CH3NHNH, CH3NNH2, and CH2NHNH2.
J Phys Chem A
; 119(28): 7659-67, 2015 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25970048
9.
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
10.
[Scintigraphic imaging in the diagnosis of failed intrathecal baclofen therapy: a case report of a 7-year-old boy with ventriculoperitoneal shunt].
No To Hattatsu
; 47(5): 367-71, 2015 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-26502655
11.
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Epilepsia
; 55(7): 994-1000, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888894
12.
Treatment of tubular damage in high-fat-diet-fed obese mice using sodium-glucose co-transporter inhibitors.
PLoS One
; 18(2): e0281770, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36780539
13.
Early occurrence of nephrotic syndrome associated with cord blood stem cell transplantation.
Clin Exp Nephrol
; 16(1): 180-2, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21986678
14.
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
15.
Imaging neural circuit pathology of autism spectrum disorders: autism-associated genes, animal models and the application of in vivo two-photon imaging.
Microscopy (Oxf)
; 71(Supplement_1): i81-i99, 2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275183
16.
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy.
Brain Dev
; 44(6): 386-390, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35153087
17.
Mechanism of transient photothermal inactivation of bacteria using a wavelength-tunable nanosecond pulsed laser.
Sci Rep
; 11(1): 22310, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34785646
18.
Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion.
J Neurol Sci
; 414: 116808, 2020 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32276107
19.
Severe anti-GAD antibody-associated encephalitis after stem cell transplantation.
Brain Dev
; 41(3): 301-304, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30381136
20.
Early administration of vitamins B1 and B6 and l-carnitine prevents a second attack of acute encephalopathy with biphasic seizures and late reduced diffusion: A case control study.
Brain Dev
; 41(7): 618-624, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862409