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Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells

Cell reports (Cambridge), 2015-02, Vol.10 (4), p.537-550

2015

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Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection

PloS one, 2023-06, Vol.18 (6), p.e0287545-e0287545

2023

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The first Japanese case of primary familial brain calcification caused by an MYORG variant

Journal of human genetics, 2020-10, Vol.65 (10), p.917-920

2020

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Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

Cell reports (Cambridge), 2016-11, Vol.17 (6), p.1482-1490

2016

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Mutations of optineurin in amyotrophic lateral sclerosis

Nature (London), 2010-05, Vol.465 (7295), p.223-226

2010

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Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

Nature genetics, 2009-12, Vol.41 (12), p.1303-1307

2009

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Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

Nature communications, 2016-08, Vol.7 (1), p.12547-12547, Article 12547

2016

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Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women

Hypertension research, 2017-02, Vol.40 (2), p.207-211

2017

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Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Journal of human genetics, 2020-04, Vol.65 (4), p.363-369

2020

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Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis

Journal of the neurological sciences, 2021-11, Vol.430, p.119984-119984, Article 119984

2021

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Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University

Journal of radiation research, 2021-05, Vol.62 (Supplement_1), p.i107-i113

2021

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Analysis of genetic risk factors in Japanese patients with Parkinson's disease

Journal of human genetics, 2021-10, Vol.66 (10), p.957-964

2021

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Kv11 (ether‐à‐go‐go‐related gene) voltage‐dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials

The Journal of physiology, 2021-01, Vol.599 (2), p.547-569

2021

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Optineurin and amyotrophic lateral sclerosis

Geriatrics & gerontology international, 2013-07, Vol.13 (3), p.528-532

2013

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Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

Neurobiology of disease, 2021-01, Vol.148, p.105215-105215, Article 105215

2021

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FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

BMC neurology, 2021-10, Vol.21 (1), p.1-396, Article 396

2021

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PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation

Human molecular genetics, 2017-11, Vol.26 (22), p.4429-4440

2017

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Aggressive periodontitis and NOD2 variants

Journal of human genetics, 2020-10, Vol.65 (10), p.841-846

2020

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First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

PloS one, 2017-05, Vol.12 (5), p.e0177955-e0177955

2017

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A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

Molecular brain, 2015-12, Vol.8 (89), p.89-89, Article 89

2015

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Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease

Clinical neurology and neurosurgery, 2021-02, Vol.201, p.106456-106456, Article 106456

2021

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Comparison of two families with and without ataxia harboring novel variants in PRKCG

Journal of human genetics, 2022-10, Vol.67 (10), p.595-599

2022

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Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions

Differentiation (London), 2022-01, Vol.123, p.1-8

2022

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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

BMC medical genetics, 2020-03, Vol.21 (1), p.68-4, Article 68

2020

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Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia

Molecular brain, 2020-11, Vol.13 (1), p.1-163, Article 163

2020

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Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells

Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection

The first Japanese case of primary familial brain calcification caused by an MYORG variant

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

Mutations of optineurin in amyotrophic lateral sclerosis

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women

Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis

Prospects and status of the dosimetry system for atomic bomb survivor cohort study conducted at Research Institute for Radiation Biology and Medicine of Hiroshima University

Analysis of genetic risk factors in Japanese patients with Parkinson's disease

Kv11 (ether‐à‐go‐go‐related gene) voltage‐dependent K+ channels promote resonance and oscillation of subthreshold membrane potentials

Optineurin and amyotrophic lateral sclerosis

Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report

PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation

Aggressive periodontitis and NOD2 variants

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

Long-term MRI findings of adult-onset neuronal intranuclear inclusion disease

Comparison of two families with and without ataxia harboring novel variants in PRKCG

Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Zonisamide can ameliorate the voltage-dependence alteration of the T-type calcium channel CaV3.1 caused by a mutation responsible for spinocerebellar ataxia

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