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Hiroyuki Yamada

Tottori University

9

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50

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Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.

2021 Brain & Development
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Progressive cerebral atrophies in three children with COL4A1 mutations

2021 Brain & Development
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Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.

2021 Human genome variation
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Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.

2020 Epileptic Disorders
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Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

2020 Human Mutation
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Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study.

2020 Brain & Development
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CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report

2018 Brain & Development
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Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

2015 Pediatric Neurology
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Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

2014 Brain & Development
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