H. Morino

发表

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

N. Hattori, H. Kawakami, H. Naito, 2017, PloS one.

Dinucleotide repeat polymorphisms in the Neprilysin gene are not associated with sporadic Alzheimer's disease

M. Oda, H. Kawakami, H. Morino, 2002, Neuroscience Letters.

Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

H. Kawakami, H. Morino, H. Maruyama, 2019, Journal of Neurology, Neurosurgery, and Psychiatry.

Identification of a new family of spinocerebellar ataxia type 14 in the japanese spinocerebellar ataxia population by the screening of PRKCG exon 4

K. Kurisu, H. Kawakami, H. Morino, 2006, Movement disorders : official journal of the Movement Disorder Society.

Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.

M. Oda, H. Kawakami, H. Morino, 2002, American journal of medical genetics.

The clinical characteristics of spinocerebellar ataxia 36 : A study of 2121 Japanese ataxia patients

R. Kaji, M. Oda, H. Kawakami, 2012, Movement disorders : official journal of the Movement Disorder Society.

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

T. Miki, R. Kaji, H. Nodera, 2009, Journal of the Neurological Sciences.

Genetic studies in Parkinson's disease with an α-synuclein/NACP gene polymorphism in Japan

M. Oda, H. Kawakami, H. Morino, 2001, Neuroscience Letters.

The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population.

E. Larson, D. Tsuang, I. Mata, 2011, Parkinsonism & related disorders.

Aggressive periodontitis and NOD2 variants

T. Iwata, H. Kawakami, H. Morino, 2020, Journal of Human Genetics.

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

H. Kawakami, H. Morino, A. Kakizuka, 2020, Journal of Human Genetics.

Channelopathies and Cerebellar Disease

H. Kawakami, H. Morino, Y. Matsuda, 2021, Handbook of the Cerebellum and Cerebellar Disorders.

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan

M. Oda, H. Kawakami, H. Morino, 2004, Neuroscience Letters.

SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.

M. Oda, H. Kawakami, H. Morino, 2003, American journal of human genetics.

Oromandibular dystonia associated with SCA36

T. Kawarai, A. Orlacchio, R. Kaji, 2013, Movement disorders : official journal of the Movement Disorder Society.

Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease

A. Samii, B. Leis, R. Kaji, 2006, Neurology.

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

M. Oda, H. Kawakami, H. Morino, 2004, Archives of neurology.

Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia

H. Kawakami, H. Morino, H. Maruyama, 2020, Neurology: Genetics.

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

H. Kawakami, M. Kamada, H. Morino, 2021, Journal of Human Genetics.

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

R. Matsumoto, R. Takahashi, S. Nakano, 2014, Acta neuropathologica communications.

The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia

H. Kawakami, H. Morino, H. Maruyama, 2008, Journal of the Neurological Sciences.

Short communication The CNTN4 c.4256CNT mutation is rare in Japanese with inherited spinocerebellar ataxia

H. Kawakami, H. Morino, H. Maruyama, 2008 .

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

H. Kawakami, H. Morino, T. Kurashige, 2020, BMC Medical Genetics.

Mutations of optineurin in amyotrophic lateral

Takeo Kato, T. Takumi, S. Matsuura, 2010 .

TDP-43 Accumulation Within Intramuscular Nerve Bundles of Patients With Amyotrophic Lateral Sclerosis.

H. Kawakami, H. Morino, H. Maruyama, 2022, JAMA neurology.

Mutations of optineurin in amyotrophic lateral sclerosis

Takeo Kato, T. Takumi, S. Matsuura, 2010, Nature.

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

H. Kawakami, Tetsuya Takahashi, H. Morino, 2021, Differentiation; research in biological diversity.

Optineurin regulates osteoblastogenesis through STAT1.

T. Iwata, Y. Sotomaru, H. Kawakami, 2020, Biochemical and biophysical research communications.

Screening for OPTN mutations in amyotrophic lateral sclerosis in mainly Caucasian

H. Kawakami, M. Kamada, H. Morino, 2013 .

Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series

H. Kawakami, H. Morino, H. Maruyama, 2011, Journal of medical case reports.

Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population

H. Kawakami, M. Kamada, H. Morino, 2011, Neurobiology of Aging.

Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

E. Nordh, Yi-Chung Lee, R. Sommerville, 2020, Lancet Neurology.

Genetic studies in Parkinson's disease with an alpha-synuclein/NACP gene polymorphism in Japan.

M. Oda, H. Kawakami, H. Morino, 2001, Neuroscience letters.

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

H. Kawakami, H. Morino, H. Maruyama, 2013, Neurology.

Contribution of the interleukin‐1β gene polymorphism in multiple system atrophy

R. Kaji, H. Kawakami, H. Morino, 2002 .

Increased Serum Alkaline Phosphatase and Functional Outcome in Patients with Acute Ischemic Stroke Presenting a Low Ankle–Brachial Index

H. Naito, H. Morino, H. Maruyama, 2021, Journal of atherosclerosis and thrombosis.

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

H. Kawakami, H. Morino, H. Maruyama, 2014, Clinical genetics.

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia

S. Matsuura, R. Kaji, H. Kawakami, 2014, Journal of the Neurological Sciences.

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

Masahiko Watanabe, K. Hashimoto, H. Kawakami, 2015, Molecular Brain.

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

H. Kawakami, H. Morino, H. Maruyama, 2014, BMC Neurology.

Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

Y. Sotomaru, H. Kawakami, M. Kamada, 2020, Neurobiology of Disease.

Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy

R. Kaji, M. Oda, H. Kawakami, 2018, Neuropathology : official journal of the Japanese Society of Neuropathology.

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

H. Kawakami, H. Morino, T. Kurashige, 2019, Journal of the Neurological Sciences.

広島大学学術情報リポジトリ Hiroshima University Institutional Repository Title Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated , Outbred Patients

Y. Okazaki, Tomoaki Tanaka, H. Kawakami, 2022 .

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

G. Sobue, H. Kawakami, H. Morino, 2021, BMC Neurology.

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

K. Hashimoto, H. Kawakami, H. Morino, 2020, Molecular brain.

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations

T. Kawarai, A. Orlacchio, R. Kaji, 2015, Journal of the Neurological Sciences.

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

Masahiko Watanabe, K. Hashimoto, H. Kawakami, 2015, Molecular Brain.

Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide

H. Kawakami, H. Morino, H. Maruyama, 2019, Journal of the Neurological Sciences.

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

P. Chinnery, M. Saraiva-Pereira, H. Kawakami, 2008, European Journal of Human Genetics.

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

H. Kawakami, H. Morino, T. Kurashige, 2020, Journal of Human Genetics.

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing

H. Kawakami, H. Morino, H. Maruyama, 2014, Neurobiology of Aging.

Socio-economic impact on epilepsy outside of the nation-wide COVID-19 pandemic area

H. Morino, H. Maruyama, K. Iida, 2021, Epilepsy & Behavior.

Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

I. Nishino, H. Morino, H. Maruyama, 2022, Journal of Human Genetics.

DYT6 in Japan—genetic screening and clinical characteristics of the patients

T. Kawarai, R. Kaji, H. Kawakami, 2014, Movement disorders : official journal of the Movement Disorder Society.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

T. Walsh, M. King, Ming K. Lee, 2014, Neurology.

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

M. Hasegawa, T. Kawarai, R. Kaji, 2019, BMC Neurology.

Lack of an association between cystatin C gene polymorphisms in Japanese patients with Alzheimer’s disease

M. Oda, H. Kawakami, H. Morino, 2001, Neurology.

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

Hiroyuki Morino, Tomoaki Tanaka, Koichi Hagiwara, 2010, BMC Bioinformatics.

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

S. Matsuura, Takashi Yamamoto, H. Kawakami, 2017, Human molecular genetics.

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP‐43 proteinopathy

M. Oda, H. Kawakami, H. Morino, 2021, Neuropathology : official journal of the Japanese Society of Neuropathology.

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

R. Matsumoto, R. Takahashi, S. Nakano, 2014, Acta neuropathologica communications.

Extubation failure due to atypical parkinsonism with negligible motor and variable non-motor symptoms associated with a variant of DCTN1

H. Morino, H. Maruyama, S. Neshige, 2022, Internal and Emergency Medicine.

Amyloid Beta Is Internalized via Macropinocytosis, an HSPG- and Lipid Raft-Dependent and Rac1-Mediated Process

Tetsuya Takahashi, H. Morino, H. Maruyama, 2022, Frontiers in Molecular Neuroscience.

A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

T. Kawarai, H. Kawakami, H. Morino, 2000, Annals of neurology.

The protocol of EPI-589 early Phase 2 Investigator-initiated Clinical trial for ALS (EPIC-ALS): A multi-center, open-labeled, 24-week, single-group, exploratory trial of EPI-589 in amyotrophic lateral sclerosis (Preprint)

G. Sobue, H. Kawai, H. Morino, 2022, JMIR Research Protocols.

Aggressive Periodontitis with Neutropenia Caused by MMD2 Mutation

T. Iwata, Takashi Yamamoto, Y. Sotomaru, 2019 .

Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.

H. Kawakami, H. Morino, H. Maruyama, 2011, Hiroshima journal of medical sciences.

LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease

G. Schellenberg, C. Hutter, E. Larson, 2009, Movement disorders : official journal of the Movement Disorder Society.

Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system.

H. Kawakami, H. Morino, H. Maruyama, 2013, American journal of neurodegenerative disease.

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

Masahiko Watanabe, K. Sakimura, K. Hashimoto, 2020, The Journal of physiology.

Dinucleotide repeat polymorphism in interferon‐γ gene is not associated with sporadic Alzheimer's disease

M. Oda, H. Kawakami, H. Morino, 2004 .

[Biochemical aspects of aging].

H. Morino, S. Nakamura, 1999, No to shinkei = Brain and nerve.

Autosomal recessive Andersen–Tawil syndrome with a novel mutation L94P in Kir2.1

K. Hashimoto, H. Kawakami, Tetsuya Takahashi, 2013 .

Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy.

R. Kaji, H. Kawakami, H. Morino, 2002, Movement disorders : official journal of the Movement Disorder Society.

Mitochondrial DNA haplogroups and age at onset of Machado–Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations

A. Srivastava, M. Faruq, M. Saraiva-Pereira, 2018, European journal of neurology.

Compound heterozygote mutations in the SIGMAR1 gene in an oldest‐old patient with amyotrophic lateral sclerosis

R. Kaji, H. Kawakami, H. Morino, 2018, Geriatrics & gerontology international.

Nerve Ultrasonography for the Diagnosis and Evaluation of Neuralgic Amyotrophy

H. Morino, H. Maruyama, H. Ueno, 2022, Internal medicine.

CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.

I. Nishino, S. Matsuura, Kayoko Saito, 2023, American journal of human genetics.

Dinucleotide repeat polymorphism in interferon-gamma gene is not associated with sporadic Alzheimer's disease.

M. Oda, H. Kawakami, H. Morino, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

H. Kawakami, H. Morino, H. Maruyama, 2014, Clinical genetics.

Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients

H. Morino, H. Miyazawa, K. Seyama, 2011, PloS one.

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease

H. Kawakami, H. Morino, H. Maruyama, 2013, Neurology.