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A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome

Clinical genetics, 2018-04, Vol.93 (4), p.929-930

2018

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Study of the Dynamic Properties of HTS Bulk Movers for Traveling Along Vertical Walls as a Three-Dimensional Actuator

IEEE transactions on applied superconductivity, 2016-06, Vol.26 (4), p.1-4

2016

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Dynamic Characteristics of a 3-D Superconducting Actuator With Arranged Permanent Magnets and Electromagnets

IEEE transactions on applied superconductivity, 2016-06, Vol.26 (4), p.1-4

2016

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Study on the Dynamic Stability of 3-D Superconducting Actuator by Various Typed HTS Bulk Movers

IEEE transactions on applied superconductivity, 2015-06, Vol.25 (3), p.1-4

2015

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POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S268-S268

2015

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G.P.7.07 A case of nemaline myopathy with dilated cardiomyopathy, who was treated with home mechanical ventilation

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.589-589

2009

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P4.05 Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.659-659

2010

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P4.18 Asphyxia in a Duchenne muscular dystrophy patient due to tracheal compression by brachiocephalic artery

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.663-664

2010

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The Dynamic Characteristics on the Wall Traveling of the HTS Bulk Superconducting Actuator

Physics procedia, 2015, Vol.65, p.249-252

2015

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The Dynamic Characteristics of 3-D Superconducting Actuator Using the Magnetized HTS Bulk by Sandwiched Electromagnets

Physics procedia, 2014, Vol.58, p.294-297

2014

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P3.05 Checking exon-skipping events in candidates for clinical trials of morpholino

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.642-642

2010

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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.776-782

2019

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Immobility reduces muscle fiber necrosis in dystrophin deficient muscular dystrophy

Brain & development (Tokyo. 1979), 2006-08, Vol.28 (7), p.473-476

2006

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T.P.1.02 Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.577-577

2009

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P.340Viltolarsen, exon 53 skipping drug, in patients with Duchenne muscular dystrophy: additional analysis of Japanese phase I/II study

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S166-S167

2019

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DMD CLINICAL THERAPIES II: P.129A Japanese phase I/II study of NS-065/NCNP-01, exon 53 skipping drug, in patients with Duchenne muscular dystrophy - a dose-finding study

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S68-S68

2018

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DMD CLINICAL THERAPIES II

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S68

2018

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International incidence of childhood cancer, 2001–10: a population-based registry study

The lancet oncology, 2017-06, Vol.18 (6), p.719-731

2017

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Study protocol for the Fukushima Health Management Survey

Journal of epidemiology, 2012, Vol.22 (5), p.375-383

2012

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Palivizumab Prophylaxis in Preterm Infants and Subsequent Recurrent Wheezing. Six-Year Follow-up Study

American journal of respiratory and critical care medicine, 2017-07, Vol.196 (1), p.29-38

2017

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Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

Nature communications, 2021-11, Vol.12 (1), p.6819-6819, Article 6819

2021

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METABOLIC MYOPATHIES II

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S135

2018

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METABOLIC MYOPATHIES II: P.348Identification of late-onset Pompe disease with nationwide high-risk screening study in Japan

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S135-S135

2018

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High-risk screening for late-onset Pompe disease in Japan

Journal of the neurological sciences, 2017-10, Vol.381, p.826-826

2017

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Association of Sleep Duration with Mortality from Cardiovascular Disease and Other Causes for Japanese Men and Women : the JACC Study

Sleep (New York, N.Y.), 2009-03, Vol.32 (3), p.295-301

2009

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A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome

Study of the Dynamic Properties of HTS Bulk Movers for Traveling Along Vertical Walls as a Three-Dimensional Actuator

Dynamic Characteristics of a 3-D Superconducting Actuator With Arranged Permanent Magnets and Electromagnets

Study on the Dynamic Stability of 3-D Superconducting Actuator by Various Typed HTS Bulk Movers

POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy

G.P.7.07 A case of nemaline myopathy with dilated cardiomyopathy, who was treated with home mechanical ventilation

P4.05 Novel mutation in splicing donor of dystrophin gene first exon in a patient with dilated cardiomyopathy but no clinical signs of skeletal myopathy

P4.18 Asphyxia in a Duchenne muscular dystrophy patient due to tracheal compression by brachiocephalic artery

The Dynamic Characteristics on the Wall Traveling of the HTS Bulk Superconducting Actuator

The Dynamic Characteristics of 3-D Superconducting Actuator Using the Magnetized HTS Bulk by Sandwiched Electromagnets

P3.05 Checking exon-skipping events in candidates for clinical trials of morpholino

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Immobility reduces muscle fiber necrosis in dystrophin deficient muscular dystrophy

T.P.1.02 Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients

P.340Viltolarsen, exon 53 skipping drug, in patients with Duchenne muscular dystrophy: additional analysis of Japanese phase I/II study

DMD CLINICAL THERAPIES II: P.129A Japanese phase I/II study of NS-065/NCNP-01, exon 53 skipping drug, in patients with Duchenne muscular dystrophy - a dose-finding study

DMD CLINICAL THERAPIES II

International incidence of childhood cancer, 2001–10: a population-based registry study

Study protocol for the Fukushima Health Management Survey

Palivizumab Prophylaxis in Preterm Infants and Subsequent Recurrent Wheezing. Six-Year Follow-up Study

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

METABOLIC MYOPATHIES II

METABOLIC MYOPATHIES II: P.348Identification of late-onset Pompe disease with nationwide high-risk screening study in Japan

High-risk screening for late-onset Pompe disease in Japan

Association of Sleep Duration with Mortality from Cardiovascular Disease and Other Causes for Japanese Men and Women : the JACC Study

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