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.
Safety and immunogenicity of mRNA COVID-19 vaccine in inpatients with muscular dystrophy.
Muscle Nerve
; 67(2): 117-123, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478587
3.
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Brain
; 145(3): 1139-1150, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35355059
4.
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
Am J Hum Genet
; 100(1): 169-178, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28017374
5.
The myotonic dystrophy health index: Japanese adaption and validity testing.
Muscle Nerve
; 59(5): 577-582, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30681157
6.
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
J Hum Genet
; 63(4): 417-423, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29403087
7.
Validation of The Individualized Neuromuscular Quality of Life in Japanese patients with myotonic dystrophy.
Muscle Nerve
; 2018 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342319
8.
Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.
BMC Health Serv Res
; 16: 241, 2016 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27401940
9.
Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
J Neurol Neurosurg Psychiatry
; 86(5): 483-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253871
10.
Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study.
Disabil Rehabil
; : 1-10, 2024 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38555736
11.
[Current practices of transition from pediatric to adult health care for patients with neurological disease: promote the cooperation between child and adult neurologists].
Rinsho Shinkeigaku
; 63(2): 67-72, 2023 Feb 25.
Artigo
em Japonês
| MEDLINE | ID: mdl-36725009
12.
A disease-specific iPS cell resource for studying rare and intractable diseases.
Inflamm Regen
; 43(1): 43, 2023 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684663
13.
Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.
Ann Clin Transl Neurol
; 10(12): 2360-2372, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882106
14.
High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial.
EClinicalMedicine
; 59: 101920, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256098
15.
[Muscular Dystrophy: A Banana? At This Time of the Night?]
Brain Nerve
; 74(12): 1405-1408, 2022 Dec.
Artigo
em Japonês
| MEDLINE | ID: mdl-36503145
16.
[Perspective on transition from pediatric to adult health care for patients with neurological disease: current situation and issues].
Rinsho Shinkeigaku
; 62(4): 261-266, 2022 Apr 27.
Artigo
em Japonês
| MEDLINE | ID: mdl-35354722
17.
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
NPJ Genom Med
; 7(1): 62, 2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36289212
18.
[Changing medical care for amyotrophic lateral sclerosis patients and cause of death - review of muscular dystrophy wards (1999-2013)].
Rinsho Shinkeigaku
; 61(3): 161-165, 2021 Mar 25.
Artigo
em Japonês
| MEDLINE | ID: mdl-33627584
19.
Study Protocol for a Multicenter, Open-Label, Single-Arm Study of Tranilast for Cardiomyopathy of Muscular Dystrophy.
Kurume Med J
; 66(2): 121-126, 2021 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135201
20.
A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy.
Neuromuscul Disord
; 31(9): 839-846, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34462178