Detalhe da pesquisa
1.
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Am J Hum Genet
; 106(6): 793-804, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32413282
2.
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Genet Med
; 21(1): 44-52, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29543226
3.
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Genet Med
; 21(5): 1263, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30728527
4.
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Genet Med
; 21(8): 1900, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209272
5.
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Genet Med
; 21(2): 512-515, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190610
6.
SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.
J Hum Genet
; 62(9): 857-859, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28490766
7.
[A case of Holmes tremor in which 123I-IMP SPECT and MRI findings suggest damage to the cerebellothalamic tract and the dentato-rubro-olivary pathway].
Rinsho Shinkeigaku
; 64(4): 280-285, 2024 Apr 24.
Artigo
em Japonês
| MEDLINE | ID: mdl-38522912
8.
Reliability of the unified multiple system atrophy rating scale using the telephone.
Clin Neurol Neurosurg
; 237: 108147, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325040
9.
Efficacy of Intravenous Immunoglobulins against Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids: A Case Report.
Case Rep Neurol
; 15(1): 48-53, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938308
10.
Atypical posterior reversible encephalopathy syndrome associated with Sjögren'|s syndrome: a case report.
Rinsho Shinkeigaku
; 63(3): 159-162, 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843087
11.
Clinical Characteristics of Patients with Cryptococcal Meningitis in Hokkaido: A Case Series.
Intern Med
; 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37722895
12.
Cat Scratch Disease-associated Encephalitis Followed by Parkinsonism.
Intern Med
; 61(20): 3115-3120, 2022 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314550
13.
Clinical features of anti-mitochondrial M2 antibody-positive myositis: case series of 17 patients.
J Neurol Sci
; 442: 120391, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36115217
14.
[A case of tick-borne encephalitis without any sequelae].
Rinsho Shinkeigaku
; 61(5): 310-313, 2021 May 19.
Artigo
em Japonês
| MEDLINE | ID: mdl-33867414
15.
FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients.
J Neurol
; 271(6): 3643-3647, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38472396
16.
Reversible Centripetal Cerebral Vasculitis in Pneumococcal Meningitis.
Intern Med
; 62(6): 953-954, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945004
17.
Limb-girdle muscular dystrophy due to emerin gene mutations.
Arch Neurol
; 64(7): 1038-41, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17620497
18.
Chronic inflammatory demyelinating polyneuropathy after treatment with interferon-alpha.
Intern Med
; 48(5): 373-5, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19252365
19.
An autopsy case of Sjögren's syndrome with acute encephalomyelopathy.
Intern Med
; 47(19): 1675-80, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18827415