Detalhe da pesquisa
1.
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
J Hum Genet
; 66(11): 1061-1068, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958710
2.
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Am J Med Genet A
; 185(5): 1468-1480, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624935
3.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842224
4.
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.
J Hum Genet
; 64(1): 55-59, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302010
5.
Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.
J Hum Genet
; 64(1): 61-63, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30410098
6.
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
Clin Genet
; 94(6): 538-547, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30280376
7.
NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.
Hum Genome Var
; 11(1): 22, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38755192
8.
Age- and sex-related oculomotor manifestation of dopamine deficiency in Segawa disease.
Clin Neurophysiol
; 157: 73-87, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38064930
9.
A vertebrate-wide catalogue of T1R receptors reveals diversity in taste perception.
Nat Ecol Evol
; 8(1): 111-120, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38093021
10.
Problems in the Development of the Sleep-Wake Rhythm Influence Neurodevelopmental Disorders in Children.
Diagnostics (Basel)
; 13(11)2023 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296711
11.
Pre-movement gating of somatosensory evoked potentials in Tourette syndrome.
Brain Dev
; 45(6): 324-331, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36878743
12.
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat-Wilson syndrome.
Eur J Med Genet
; 66(12): 104882, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944854
13.
The Pathophysiology of Gilles de la Tourette Syndrome: Changes in Saccade Performance by Low-Dose L-Dopa and Dopamine Receptor Blockers.
Brain Sci
; 13(12)2023 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137082
14.
Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.
Mov Disord Clin Pract
; 10(5): 748-755, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37205244
15.
Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression.
Cereb Cortex
; 21(3): 588-96, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20624841
16.
Neonatal herpes simplex encephalitis with bilateral temporal mega cystic lesion.
No To Hattatsu
; 49(1): 53-4, 2017 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-30011157
17.
Abnormal myocardial scintigraphy in a GTP cyclohydrolase 1 mutation carrier with Parkinson's disease.
Mov Disord
; 31(3): 422-3, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26862031
18.
Very-Low-Dose Levodopa Therapy for Pediatric Neurological Disorders: A Preliminary Questionnaire in Japan.
Front Pediatr
; 9: 569594, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33748036
19.
Case Report: Guitarist's cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation.
F1000Res
; 10: 361, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34394914
20.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Nat Commun
; 12(1): 2107, 2021 04 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833240