Detalhe da pesquisa
1.
Hematopoietic Prostaglandin D Synthase Is Increased in Mast Cells and Pericytes in Autopsy Myocardial Specimens from Patients with Duchenne Muscular Dystrophy.
Int J Mol Sci
; 25(3)2024 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38339125
2.
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
3.
The current status of medical care for myotonic dystrophy type 1 in the national registry of Japan.
Muscle Nerve
; 67(5): 387-393, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36762492
4.
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
5.
Impact of the TRPV2 Inhibitor on Advanced Heart Failure in Patients with Muscular Dystrophy: Exploratory Study of Biomarkers Related to the Efficacy of Tranilast.
Int J Mol Sci
; 24(3)2023 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768491
6.
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
J Transl Med
; 20(1): 517, 2022 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348371
7.
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1.
BMC Neurol
; 22(1): 55, 2022 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35164706
8.
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
9.
Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy.
Int J Mol Sci
; 20(16)2019 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31394715
10.
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
11.
Cognitive impairment and quality of life in patients with myotonic dystrophy type 1.
Muscle Nerve
; 57(5): 742-748, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193182
12.
Autism spectrum disorders are prevalent among patients with dystrophinopathies.
Neurol Sci
; 39(7): 1279-1282, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29594829
13.
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
14.
An autopsy case of neuronal intermediate filament inclusion disease with regard to immunophenotypic and topographical analysis of the neuronal inclusions.
Neuropathology
; 35(6): 545-52, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26096780
15.
Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study.
Intern Med
; 63(3): 365-372, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37344421
16.
The Association Between Physical Activity/Heart Rate Variability Data Obtained Using a Wearable Device and Timed Motor Functional Tests in Patients with Duchenne Muscular Dystrophy: A Pilot Study.
J Neuromuscul Dis
; 11(3): 715-724, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607760
17.
Analysis of splicing abnormalities in the white matter of myotonic dystrophy type 1 brain using RNA sequencing.
Neurosci Res
; 200: 48-56, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37806497
18.
Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study.
Disabil Rehabil
; : 1-10, 2024 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38555736
19.
Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.
EClinicalMedicine
; 67: 102390, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38314057
20.
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
J Neurol Neurosurg Psychiatry
; 84(4): 433-40, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23243261