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Yoshimitsu Shimatani

University of Tokushima

45

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352

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A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma.

2021 Human genome variation
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Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis.

2021 Journal of the Neurological Sciences
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Guillain−Barré syndrome in a local area in Japan, 2006–2015: an epidemiological and clinical study of 108 patients

2018 European Journal of Neurology
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Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants

2017 Clinical Genetics
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Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease

2017
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Neurogenic and Myogenic Diseases: Quantitative Texture Analysis of Muscle US Data for Differentiation

2017 Radiology
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Pneumococcal meningitis in hyposplenism

2017 Neurology and Clinical Neuroscience
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Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy.

2016 Frontiers in Physiology
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Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16

2016 JAMA Neurology
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Intramuscular dissociation of echogenicity in the triceps surae characterizes sporadic inclusion body myositis

2016 European Journal of Neurology
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