K. Ogata

发表

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

J. Towbin, I. Nonaka, Y. Hayashi, 2017, American journal of human genetics.

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure

J. Kira, I. Nonaka, Y. Hayashi, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

N. Matsumoto, N. Miyake, S. Miyatake, 2012, Internal medicine.

Multiplex families with multiple system atrophy.

I. Kanazawa, S. Tsuji, A. Kakita, 2007, Archives of neurology.

[Long-term treatment of diabetes mellitus in myotonic dystrophy with pioglitazone].

Toshiyuki Yamamoto, Y. Oya, M. Kawai, 2005, Rinsho shinkeigaku = Clinical neurology.

Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis

T. Fujii, Yuji Takahashi, H. Mochizuki, 2019, Neurology: Genetics.

Decreased resting energy expenditure in patients with Duchenne muscular dystrophy

H. Mochizuki, M. Sasaki, E. Nakagawa, 2012, Brain and Development.

[Validation of the Japanese-translated version Multiple Sclerosis Quality of Life-54 instrument].

Toshiyuki Yamamoto, M. Kawai, M. Ogawa, 2004, Rinsho shinkeigaku = Clinical neurology.

Misfolded SOD1 forms high-density molecular complexes with synaptic molecules in mutant SOD1-linked familial amyotrophic lateral sclerosis cases

K. Arima, T. Araki, M. Tateno, 2012, Journal of the Neurological Sciences.

A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy

Y. Sunada, S. Suwazono, M. Aoki, 2021, Neuromuscular Disorders.

Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy

S. Saitoh, S. Takeda, Y. Maegaki, 2020, Annals of clinical and translational neurology.

Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing

K. Misawa, N. Matsumoto, S. Miyatake, 2022, npj Genomic Medicine.

Muscular Dystrophy Clinical Trial Network in Japan

K. Ogata, 2016 .

Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan

N. Yonemoto, S. Sakoda, Toshio Saito, 2017, Neuromuscular Disorders.

Human skeletal muscle calcium channel α1S is expressed in the basal ganglia: distinctive expression pattern among L-type Ca2+ channels

Ichiro Kanazawa, Yuji Takahashi, I. Kanazawa, 2003, Neuroscience Research.

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

K. Hirata, Y. Hayashi, I. Nishino, 2012, Journal of the Neurological Sciences.

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

I. Nishino, S. Okahashi, G. Ogawa, 2008, Internal medicine.

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

Y. Itoyama, S. Tsuji, G. Sobue, 2017, The Lancet Neurology.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Shinichi Morishita, Yasuo Terao, Yuko Saito, 2019, Nature Genetics.

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

Y. Yamaguchi, N. Matsumoto, N. Miyake, 2018, Journal of Human Genetics.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

T. Matsukawa, S. Tsuji, Jun Shinmi, 2019, Nature Genetics.

The genomic structure and expression of MJD, the Machado-Joseph disease gene

M. Hattori, Y. Sakaki, I. Kanazawa, 2001, Journal of Human Genetics.

RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy

M. Hagiwara, I. Nishino, T. Awaya, 2022, Human Genetics.

Mental retardation and lifetime events of Duchenne muscular dystrophy in Japan.

H. Mochizuki, S. Miyatake, T. Tamura, 2008, Internal medicine.

[Inpatients with facioscapulohumeral muscular dystrophy in specialized institutions in Japan from 1999 to 2013-Clinical condition changes and causes of death].

Toshio Saito, Toshiaki Takahashi, S. Kuru, 2019, Rinsho shinkeigaku = Clinical neurology.

Screening of autoantibodies associated with necrotizing myopathy among undiagnosed chronic myopathy.

Shigeaki Suzuki, C. Ishida, T. Matsumura, 2017, Rinsho shinkeigaku = Clinical neurology.

Simple questionnaire for screening patients with myotonic dystrophy type 1

S. Sakoda, M. Nakamori, H. Fujimura, 2014 .

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties

I. Nonaka, I. Nishino, K. Kaida, 2017, Neuromuscular Disorders.

High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial

N. Sawamoto, T. Matsukawa, R. Hanajima, 2023, EClinicalMedicine.

Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

Yusuke Kurita, N. Matsumoto, M. Yamada, 2022, Brain : a journal of neurology.

Ipsilateral cortico-cortical inhibition of the motor cortex in various neurological disorders

Ichiro Kanazawa, Yasuo Terao, Yoshikazu Ugawa, 1996, Journal of the Neurological Sciences.

Study Protocol for a Multicenter, Open-Label, Single-Arm Study of Tranilast for Cardiomyopathy of Muscular Dystrophy.

M. Asakura, A. Saito, T. Matsumura, 2019, The Kurume medical journal.

The myotonic dystrophy health index: Japanese adaption and validity testing

M. Nakamori, C. Heatwole, H. Fujino, 2019, Muscle & nerve.

Reliability and validity of Japanese version of Unified Multiple System Atrophy Rating Scale

T. Matsukawa, S. Tsuji, G. Wenning, 2021 .

Brain volume analyses and somatosensory evoked potentials in multiple system atrophy

Yoshikazu Ugawa, Hitoshi Mochizuki, Hajime Tanabe, 2010, Journal of Neurology.

Validation of The Individualized Neuromuscular Quality of Life in Japanese patients with myotonic dystrophy

M. Rose, Toshio Saito, H. Fujino, 2018, Muscle & nerve.

[Case of suspected multiple sclerosis with transcallosal lesions involving the upper surface of the corpus callosum].

Harumasa Nakamura, Y. Oya, M. Kawai, 2008, Rinsho shinkeigaku = Clinical neurology.

Lambert-Eaton myasthenic syndrome associated with idiopathic thrombocytopenic purpura and diffuse panbronchiolitis: long-term remission after a course of intravenous immunoglobulin combined with low-dose prednisolone.

M. Sakurai, R. Hanajima, T. Yoshimura, 1999, The American journal of the medical sciences.

Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy

O. Abe, S. Aoki, T. Matsukawa, 2020, Brain communications.

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

K. Hirata, Y. Hayashi, I. Nishino, 2012, Journal of the Neurological Sciences.

Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

J. Towbin, I. Nonaka, Y. Hayashi, 2017, American journal of human genetics.