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Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling

Scientific reports, 2015-09, Vol.5 (1), p.13928-13928, Article 13928

2015

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LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity

Neurobiology of disease, 2014-09, Vol.69, p.200-205

2014

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Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies

Medical gas research, 2011-10, Vol.1 (1), p.24-24

2011

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MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology

Acta neuropathologica, 2006-10, Vol.112 (4), p.503-511

2006

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Therapeutic potential of pyruvate therapy for mitochondrial diseases

Mitochondrion, 2007-12, Vol.7 (6), p.399-401

2007

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Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

Journal of human genetics, 2012-06, Vol.57 (6), p.368-374

2012

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Abnormal Myocardial Energy-Production State in Mitochondrial Cardiomyopathy and Acute Response to L-Arginine Infusion: C-11 Acetate Kinetics Revealed by Positron Emission Tomography

Circulation Journal, 2010, Vol.74(12), pp.2702-2711

2010

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Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population

Movement disorders, 2007-04, Vol.22 (6), p.857-862

2007

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Erratum: Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

Journal of human genetics, 2012-06, Vol.57 (6), p.401-401

2012

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Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations

Mitochondrion, 2010-04, Vol.10 (3), p.300-308

2010

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MM1‐type sporadic Creutzfeldt‐Jakob disease with unusually prolonged disease duration presenting with panencephalopathic‐type pathology

Neuropathology, 2008-06, Vol.28 (3), p.326-332, Article 326

2008

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Gastric Dysmotility Associated with Accumulation of Mitochondrial A3243G Mutation in the Stomach

Internal Medicine, 2004, Vol.43(12), pp.1126-1130

2004

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(R) salsolinol N-methyltransferase activity increases in parkinsonian lymphocytes

Annals of neurology, 1998-02, Vol.43 (2), p.212-216

1998

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Growth Hormone Insensitivity Syndrome Associated with Syringomyelia and Type I Chiari Malformation

Internal Medicine, 2003, Vol.42(11), pp.1117-1121

2003

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A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis

Neuroscience letters, 2012-06, Vol.519 (1), p.67-72

2012

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Mitochondrial DNA deletions in inherited recurrent myoglobinuria

Annals of neurology, 1991-04, Vol.29 (4), p.364-369

1991

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Markedly improving sarcoid cervical myelopathy after the diagnostic treatment of prednisolone, associated with highly spondylotic spines

Nihon Naika Gakkai Zasshi, 2004/07/10, Vol.93(7), pp.1436-1438

2004

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Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations

Mitochondrion, 2010-04, Vol.10 (3), p.300-308

2010

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Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease

Rinsho shinkeigaku = Clinical neurology, 2013-04, Vol.53 (4), p.316

2013

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Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen’s disease

Rinshō shinkeigaku, 2013, Vol.53 (4), p.316-319

2013

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Thalamic degeneration

Nihon rinshō, 2004-01, Vol.62 Suppl, p.197

Sahashi, Ko

2004

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A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel

Annals of neurology, 1982-06, Vol.11 (6), p.553-569

1982

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33. Therapeutic potential of pyruvate for mitochondrial diseases

Mitochondrion, 2009-02, Vol.9 (1), p.69

2009

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Mitochondrial Genotype Frequent in Centenarians Predisposes Resistance to Adult-Onset Diseases

Journal of Clinical Biochemistry and Nutrition, 1998, Vol.24(2), pp.105-111

1998

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Spinocerebellar ataxia type 6: CAG repeat expansion in α1a voltage-dependent calcium channel gene and clinical variations in japanese population

Annals of neurology, 1997-12, Vol.42 (6), p.879-884

1997

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Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity

Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies

MM2-thalamic-type sporadic Creutzfeldt-Jakob disease with widespread neocortical pathology

Therapeutic potential of pyruvate therapy for mitochondrial diseases

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

Abnormal Myocardial Energy-Production State in Mitochondrial Cardiomyopathy and Acute Response to L-Arginine Infusion: C-11 Acetate Kinetics Revealed by Positron Emission Tomography

Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population

Erratum: Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations

MM1‐type sporadic Creutzfeldt‐Jakob disease with unusually prolonged disease duration presenting with panencephalopathic‐type pathology

Gastric Dysmotility Associated with Accumulation of Mitochondrial A3243G Mutation in the Stomach

(R) salsolinol N-methyltransferase activity increases in parkinsonian lymphocytes

Growth Hormone Insensitivity Syndrome Associated with Syringomyelia and Type I Chiari Malformation

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

Markedly improving sarcoid cervical myelopathy after the diagnostic treatment of prednisolone, associated with highly spondylotic spines

Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations

Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease

Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen’s disease

Thalamic degeneration

A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel

33. Therapeutic potential of pyruvate for mitochondrial diseases

Mitochondrial Genotype Frequent in Centenarians Predisposes Resistance to Adult-Onset Diseases

Spinocerebellar ataxia type 6: CAG repeat expansion in α1a voltage-dependent calcium channel gene and clinical variations in japanese population

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