Detalhe da pesquisa
1.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Hum Mol Genet
; 31(1): 69-81, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346499
2.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genet Med
; 24(12): 2453-2463, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305856
3.
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
4.
Endoscopic lithotripsy for upper urinary tract stones in disabled adolescents.
Pediatr Int
; 64(1): e14731, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708892
5.
Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.
Pediatr Int
; 63(3): 352-354, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33650128
6.
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
J Hum Genet
; 60(2): 97-101, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25471517
7.
Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
Am J Med Genet A
; 164A(8): 2104-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24801133
8.
[Clinical profile of persistent generalized muscle contraction following the insult of developing brain].
No To Hattatsu
; 46(1): 10-5, 2014 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-24620424
9.
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Hum Mutat
; 34(12): 1708-14, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115232
10.
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
Neurogenetics
; 14(3-4): 225-32, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24091540
11.
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
J Hum Genet
; 58(5): 273-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23466821
12.
A child with three episodes of reversible splenial lesion.
Neuropediatrics
; 44(4): 199-202, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23254571
13.
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
14.
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.
Mol Genet Metab
; 106(1): 43-7, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22472424
15.
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
Pediatr Radiol
; 42(3): 380-2, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21713441
16.
[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
17.
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
18.
Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy.
Brain Dev
; 43(3): 440-447, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277141
19.
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
20.
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.
J Neurol Sci
; 416: 117047, 2020 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32736238