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Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Journal of human genetics, 2016-06, Vol.61 (6), p.483-489

2016

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Optimization of Analytical Conditions for Hydrophilic Nucleic Acids Using Mixed-Mode and Reversed-Phase Pentabromobenzyl Columns

Chemical and Pharmaceutical Bulletin, 2020/12/01, Vol.68(12), pp.1233-1237

2020

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Effect of increased inspiratory muscle work on blood flow to inactive and active limbs during submaximal dynamic exercise

Experimental physiology, 2019-02, Vol.104 (2), p.180-188

2019

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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Orphanet journal of rare diseases, 2017-08, Vol.12 (1), p.149-149, Article 149

2017

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Preparation of Asymmetrically Nanoparticle-Supported, Monodisperse Composite Dumbbells by Protruding a Smooth Polymer Bulge from Rugged Spheres

Langmuir, 2011-11, Vol.27 (21), p.13302-13307

2011

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Blood pressure response during normocapnic hyperpnoea is blunted in young women compared to men

Respiratory physiology & neurobiology, 2018-01, Vol.247, p.52-56

2018

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Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Orphanet journal of rare diseases, 2013-04, Vol.8 (1), p.60-60, Article 60

2013

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Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility

PloS one, 2014-03, Vol.9 (3), p.e90019-e90019

2014

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Gait characteristics in women's safety shoes

Applied ergonomics, 2017-11, Vol.65, p.163-167

2017

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Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

Acta neuropathologica, 2010-04, Vol.119 (4), p.481-486

2010

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Exception, decalage, transgression : le ≪clinamen≫ dans les Exercices de style

Etudes de langue et litterature francaises, 2007/03/30, Vol.90, pp.212

GOTO, Kanako

2007

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Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

The Journal of clinical investigation, 2009-09, Vol.119 (9), p.2623-2633

2009

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Blood Pressure Response During Hyperpnoea Is Lower in Women Compared with Men: 2774 Board #294 June 2 11 00 AM - 12 30 PM

Medicine and science in sports and exercise, 2017-05, Vol.49 (5S), p.797

2017

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Effect of Increased Respiratory Muscle Activation on Blood Flow to Inactive and Active Limb Muscles: 1846 Board #2 May 30 2:00 PM - 3:30 PM

Medicine and science in sports and exercise, 2019-06, Vol.51 (6 Suppl), p.488-488

2019

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Elevated sympathetic vasomotor outflow in response to increased inspiratory muscle activity during exercise is less in young women compared with men

Experimental physiology, 2018-04, Vol.103 (4), p.570-580

2018

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A Case of Middle Ear and Laryngopharyngeal Tuberculosis during the Treatment for Crohn's Disease with TNF-α Inhibitor

Journal of Tokyo Women's Medical University, 2021/04/25, Vol.91(2), pp.153-157

2021

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Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Journal of human genetics, 2017-10, Vol.62 (10), p.931-933

2017

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Erratum: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Journal of human genetics, 2017-09, Vol.62 (10), p.931-933

2017

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A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

American journal of human genetics, 2011-06, Vol.88 (6), p.845-851

2011

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Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population

Annals of the rheumatic diseases, 2012-10, Vol.71 (10), p.1646-1650

2012

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Blunted Sympathetic Vasomotor Outflow To Inspiratory Resistive Breathing During Exercise In Women Compared to Men: 1229 Board #37 May 31 8: 00 AM - 9: 30 AM

Medicine and science in sports and exercise, 2018-05, Vol.50 (5S Suppl 1), p.284-285

2018

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Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Journal of human genetics, 2017-01, Vol.62 (10), p.931-933

2017

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Abnormal localization of laminin subunits in muscular dystrophies

Journal of the neurological sciences, 1993-10, Vol.119 (1), p.53-64

1993

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S-Curves Analysis Focusing on WOM for Technological System Evolution

Procedia engineering, 2015, Vol.131, p.1094-1104

2015

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Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations

Neuromuscular disorders : NMD, 2016-04, Vol.26 (4-5), p.300-308

2016

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Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Optimization of Analytical Conditions for Hydrophilic Nucleic Acids Using Mixed-Mode and Reversed-Phase Pentabromobenzyl Columns

Effect of increased inspiratory muscle work on blood flow to inactive and active limbs during submaximal dynamic exercise

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

Preparation of Asymmetrically Nanoparticle-Supported, Monodisperse Composite Dumbbells by Protruding a Smooth Polymer Bulge from Rugged Spheres

Blood pressure response during normocapnic hyperpnoea is blunted in young women compared to men

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility

Gait characteristics in women's safety shoes

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

Exception, decalage, transgression : le ≪clinamen≫ dans les Exercices de style

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

Blood Pressure Response During Hyperpnoea Is Lower in Women Compared with Men: 2774 Board #294 June 2 11 00 AM - 12 30 PM

Effect of Increased Respiratory Muscle Activation on Blood Flow to Inactive and Active Limb Muscles: 1846 Board #2 May 30 2:00 PM - 3:30 PM

Elevated sympathetic vasomotor outflow in response to increased inspiratory muscle activity during exercise is less in young women compared with men

A Case of Middle Ear and Laryngopharyngeal Tuberculosis during the Treatment for Crohn's Disease with TNF-α Inhibitor

Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Erratum: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population

Blunted Sympathetic Vasomotor Outflow To Inspiratory Resistive Breathing During Exercise In Women Compared to Men: 1229 Board #37 May 31 8: 00 AM - 9: 30 AM

Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

Abnormal localization of laminin subunits in muscular dystrophies

S-Curves Analysis Focusing on WOM for Technological System Evolution

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations

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