Detalhe da pesquisa
1.
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.
J Hum Genet
; 69(1): 27-31, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848721
2.
Gait video-based prediction of unified Parkinson's disease rating scale score: a retrospective study.
BMC Neurol
; 23(1): 358, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798685
3.
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
J Hum Genet
; 67(6): 353-362, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027655
4.
A diagnostic index based on quantitative susceptibility mapping and voxel-based morphometry may improve early diagnosis of Alzheimer's disease.
Eur Radiol
; 32(7): 4479-4488, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137303
5.
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.
J Hum Genet
; 66(5): 535-537, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127985
6.
Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid.
J Neurovirol
; 27(6): 917-922, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550545
7.
Correlation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series.
BMC Neurol
; 21(1): 351, 2021 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34517835
8.
Investigating the role of genetic counseling in neuromuscular disease considering life events.
J Hum Genet
; 64(6): 551-559, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30867548
9.
The Responsiveness of Triaxial Accelerometer Measurement of Gait Ataxia Is Higher than That of the Scale for the Assessment and Rating of Ataxia in the Early Stages of Spinocerebellar Degeneration.
Cerebellum
; 18(4): 721-730, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30993540
10.
Sez6l2 autoimmunity in a large cohort study.
J Neurol Neurosurg Psychiatry
; 94(8): 667-668, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37263766
11.
A novel deletion of the dystrophin gene in a patient without muscle-related symptoms.
Eur Heart J
; 42(16): 1638, 2021 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188597
12.
Comparison of Different Symptom Assessment Scales for Multiple System Atrophy.
Cerebellum
; 15(2): 190-200, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26093615
13.
Epidemiology of Multiple System Atrophy in Hokkaido, the Northernmost Island of Japan.
Cerebellum
; 14(6): 682-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25910615
14.
Reliability of the unified multiple system atrophy rating scale using the telephone.
Clin Neurol Neurosurg
; 237: 108147, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325040
15.
The Movement Disorder Society Criteria: Its Clinical Usefulness in Multiple System Atrophy.
Intern Med
; 2024 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38494718
16.
[New MDS Criteria for the Diagnosis of Multiple System Atrophy: How to Use in Clinical Practice and Clinical Trials].
Brain Nerve
; 75(2): 143-147, 2023 Feb.
Artigo
em Japonês
| MEDLINE | ID: mdl-36750212
17.
[Treatment for Spinocerebellar Degeneration].
Brain Nerve
; 75(5): 498-502, 2023 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-37194519
18.
[Diagnosis of cryoglobulinemic vasculitis based on B symptoms and peripheral neuropathy: a case report].
Rinsho Shinkeigaku
; 63(5): 291-297, 2023 May 27.
Artigo
em Japonês
| MEDLINE | ID: mdl-37100623
19.
Case series: Downbeat nystagmus in SCA27B.
J Neurol Sci
; 454: 120849, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907039
20.
Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan.
Intern Med
; 62(11): 1599-1602, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261369