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.
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Hum Mutat
; 43(2): 169-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837441
3.
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.
J Biol Chem
; 296: 100077, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187981
4.
Deep convolutional neural network-based algorithm for muscle biopsy diagnosis.
Lab Invest
; 102(3): 220-226, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599274
5.
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
6.
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
Hum Genet
; 139(2): 247-255, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919629
7.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.
Genet Med
; 21(7): 1629-1638, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30467404
8.
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
J Hum Genet
; 62(10): 931-933, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28943641
9.
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
J Hum Genet
; 61(6): 483-9, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911353
10.
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Am J Med Genet A
; 167A(5): 1100-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712306
11.
Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy.
Intern Med
; 62(9): 1345-1349, 2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130887
12.
Hepatic veno-occlusive disease accompanied by thrombotic microangiopathy developed during treatment of juvenile dermatomyositis and macrophage activation syndrome: A case report.
Mod Rheumatol Case Rep
; 7(2): 404-409, 2023 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416547
13.
[Development of Deep Convolutional Neural Network-Based Algorithm for Muscle Biopsy Diagnosis].
Brain Nerve
; 74(8): 1019-1024, 2022 Aug.
Artigo
em Japonês
| MEDLINE | ID: mdl-35941800
14.
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.
Intern Med
; 61(10): 1587-1592, 2022 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34670883
15.
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Neurol Genet
; 8(1): e649, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34934811
16.
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
Sci Rep
; 12(1): 21806, 2022 12 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36526893
17.
Mild form of Danon disease: two case reports.
Neuromuscul Disord
; 31(11): 1207-1211, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702653
18.
Duchenne muscular dystrophy-like phenotype in an LGMD2I patient with novel FKRP gene variants.
Hum Genome Var
; 7: 12, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32351701
19.
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
Mol Genet Genomic Med
; 7(5): e621, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30884204
20.
Association of inattention with slow-spindle density in sleep EEG of children with attention deficit-hyperactivity disorder.
Brain Dev
; 41(9): 751-759, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204192