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Souichi Mukaida

8

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187

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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

2018 Annals of 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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Self-induced seizures presumably by peri-orbital somatosensory self-stimulation: A report of two cases

2012 Brain & Development
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Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

2011 Journal of Human Genetics
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