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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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Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient

Internal Medicine, 2023/10/15, Vol.62(20), pp.3027-3031

2023

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Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

Journal of human genetics, 2020-10, Vol.65 (10), p.903-909

2020

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Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient: A Case Report

Internal Medicine, 2023, pp.0425-22

2023

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A Nationwide Survey on Danon Disease in Japan

International journal of molecular sciences, 2018-11, Vol.19 (11), p.3507

2018

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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

Acta neuropathologica communications, 2022-12, Vol.10 (1), p.176-176, Article 176

2022

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Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-160, Article 160

2020

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A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

BMC neurology, 2021-07, Vol.21 (1), p.1-265, Article 265

2021

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Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines

American journal of human genetics, 2010-07, Vol.87 (1), p.75-89

2010

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Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

Brain & development (Tokyo. 1979), 2018-04, Vol.40 (4), p.268-277

2018

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Myotonic dystrophy type 2 is rare in the Japanese population

Journal of human genetics, 2012-03, Vol.57 (3), p.219-220

2012

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Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies

PloS one, 2012-12, Vol.7 (12), p.e52002-e52002

2012

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Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Journal of human genetics, 2013-08, Vol.58 (8), p.564-565

2013

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Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

Stem cells international, 2017-01, Vol.2017, p.7906843-9

2017

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Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Journal of neurology, 2012-11, Vol.259 (11), p.2329-2334

2012

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Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3 : The First Report in Taiwan

Pediatrics and neonatology, 2015-02, Vol.56 (1), p.62-65

2015

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Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling

Neuroscience research, 2007-04, Vol.57 (4), p.513-521

2007

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Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient

Journal of neuropathology and experimental neurology, 2009-06, Vol.68 (6), p.701-707

2009

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Homozygous female Becker muscular dystrophy

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.1052-1055

2009

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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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Functional characterization of five novel CYP2C8 variants, G171S, R186X, R186G, K247R, and K383N, found in a Japanese population

Drug metabolism and disposition, 2005-05, Vol.33 (5), p.630

2005

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Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle

Journal of biochemistry (Tokyo), 2003-05, Vol.133 (5), p.659-664

2003

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Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring variant enzymes

The Journal of pharmacology and experimental therapeutics, 2004-01, Vol.308 (1), p.300

2004

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Oculopharyngeal Muscular Dystrophy Associated with Dementia

Internal Medicine, 2011, Vol.50(20), pp.2409-2412

2011

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Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 2022-06, Vol.32 (6), p.477-485

2022

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

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient: A Case Report

A Nationwide Survey on Danon Disease in Japan

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation

Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines

Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry

Myotonic dystrophy type 2 is rare in the Japanese population

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies

Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy

Induction of Pluripotent Stem Cells from a Manifesting Carrier of Duchenne Muscular Dystrophy and Characterization of Their X-Inactivation Status

Importance of CAG repeat length in childhood-onset dentatorubral–pallidoluysian atrophy

Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3 : The First Report in Taiwan

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling

Defective Myotilin Homodimerization Caused by a Novel Mutation in MYOT Exon 9 in the First Japanese Limb Girdle Muscular Dystrophy 1A Patient

Homozygous female Becker muscular dystrophy

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology

Functional characterization of five novel CYP2C8 variants, G171S, R186X, R186G, K247R, and K383N, found in a Japanese population

Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle

Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring variant enzymes

Oculopharyngeal Muscular Dystrophy Associated with Dementia

Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy

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