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Rie Tsuburaya

Tohoku University

26

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581

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Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.

2021 Brain
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Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder.

2021 Journal of Human Genetics
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Hepatitis C virus infection in inclusion body myositis A case-control study

2016 Neurology
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Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies in a Japanese boy with recurrent optic neuritis

2015 Brain & Development
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Case report Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies in a Japanese boy with recurrent optic neuritis

2015 Brain & Development
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Utility of real-time three-dimensional echocardiography for Duchenne muscular dystrophy with echocardiographic limitations.

2014 Neuromuscular Disorders
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G.P.76

2014 Neuromuscular Disorders
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The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with West syndrome.

2013 Brain & Development
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The usefulness of subtraction ictal SPECT and ictal near-infrared spectroscopic topography in patients with

2013
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Anti-SRP Myopathy: Disease Progression and Neurological Outcome (PD6.010)

2012 Neurology
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