Hiroyuki Morino

Summary

Affiliation: Hiroshima University
Country: Japan

Publications

  1. pmc Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
    Hiroyuki Morino
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1 2 3, Kasumi, Minami Ku, Hiroshima 734 8553, Japan
    BMC Neurol 14:5. 2014
  2. pmc A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data
    - Huqun
    Department of Respiratory Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350 0495, Japan
    BMC Bioinformatics 11:S5. 2010
  3. doi request reprint Mutations of optineurin in amyotrophic lateral sclerosis
    Hirofumi Maruyama
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734 8553, Japan
    Nature 465:223-6. 2010
  4. ncbi request reprint Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
    Katsunobu Sugihara
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Minami Ku, Hiroshima, Japan
    Neurobiol Aging 32:1923.e9-10. 2011
  5. doi request reprint The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients
    Katsunobu Sugihara
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
    Mov Disord 27:1158-63. 2012
  6. ncbi request reprint Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
    Keiko Hiramoto
    Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami Ku, Hiroshima, Japan
    Mov Disord 21:1355-60. 2006
  7. ncbi request reprint The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia
    Eiji Tanaka
    Department of Epidemiology, Division of Bio Medical Informatics, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan
    J Neurol Sci 266:180-1. 2008
  8. ncbi request reprint Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis
    Masaki Kamada
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1 2 3 Kasumi, Minami Ku, Hiroshima 734 8553, Japan
    J Neurol Sci 284:69-71. 2009
  9. doi request reprint Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia
    Ryosuke Miyamoto
    Department of Clinical Neuroscience, Institute of Health Biosciences, Graduate School of Medicine, University of Tokushima, Tokushima, Japan Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan Electronic address
    J Neurol Sci 337:219-23. 2014
  10. ncbi request reprint Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
    Masaya Oda
    Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan
    Arch Neurol 61:209-12. 2004

Collaborators

Detail Information

Publications16

  1. pmc Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
    Hiroyuki Morino
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1 2 3, Kasumi, Minami Ku, Hiroshima 734 8553, Japan
    BMC Neurol 14:5. 2014
    ..To identify the causative gene, we performed exome sequencing on a Japanese patient clinically diagnosed with recessive SCA...
  2. pmc A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data
    - Huqun
    Department of Respiratory Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Saitama 350 0495, Japan
    BMC Bioinformatics 11:S5. 2010
    ..Our procedure will accelerate the identification of disease-causing genes using high-density SNP array data...
  3. doi request reprint Mutations of optineurin in amyotrophic lateral sclerosis
    Hirofumi Maruyama
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734 8553, Japan
    Nature 465:223-6. 2010
    ..They also indicate that NF-kappaB inhibitors could be used to treat ALS and that transgenic mice bearing various mutations of OPTN will be relevant in developing new drugs for this disorder...
  4. ncbi request reprint Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population
    Katsunobu Sugihara
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Minami Ku, Hiroshima, Japan
    Neurobiol Aging 32:1923.e9-10. 2011
    ..We found a c.964T>C synonymous variation in exon 8. However, we could not find the meaningful OPTN mutations. The results indicate that OPTN mutations causing ALS are rare, especially in mainly Caucasian ALS subjects...
  5. doi request reprint The clinical characteristics of spinocerebellar ataxia 36: a study of 2121 Japanese ataxia patients
    Katsunobu Sugihara
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
    Mov Disord 27:1158-63. 2012
    ..The frequency of spinocerebellar ataxia 36 was approximately 1.2% in the autosomal dominant group, and the age of onset for this condition was later in comparison with other spinocerebellar ataxia subtypes...
  6. ncbi request reprint Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
    Keiko Hiramoto
    Department of Neurosurgery, Graduate School of Biomedical Sciences, Hiroshima University, Minami Ku, Hiroshima, Japan
    Mov Disord 21:1355-60. 2006
    ..One patient showed intractable epilepsy, severe walking disturbance, and trunk ataxia with early onset. The results of this study suggest that the frequency of SCA14 in the Japanese SCA population is very low...
  7. ncbi request reprint The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia
    Eiji Tanaka
    Department of Epidemiology, Division of Bio Medical Informatics, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan
    J Neurol Sci 266:180-1. 2008
    ..Mutations in other populations should be analyzed. Pathological examinations and molecular biological examinations are needed to confirm that this mutation is a true cause of SCA16...
  8. ncbi request reprint Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis
    Masaki Kamada
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 1 2 3 Kasumi, Minami Ku, Hiroshima 734 8553, Japan
    J Neurol Sci 284:69-71. 2009
    ..It was thought that this mutation increases TDP-43 phosphorylation. This might lead to impaired nuclear cytoplasmic transport or protein-protein interaction, thereby leading to TDP-43 accumulation...
  9. doi request reprint Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia
    Ryosuke Miyamoto
    Department of Clinical Neuroscience, Institute of Health Biosciences, Graduate School of Medicine, University of Tokushima, Tokushima, Japan Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan Electronic address
    J Neurol Sci 337:219-23. 2014
    ..Moreover, together with a recently reported case of an MRE11 mutation, it is suggested that MRE11 mutations can present as PMA. ..
  10. ncbi request reprint Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17
    Masaya Oda
    Department of Clinical Neuroscience and Therapeutics, Graduate School of Biomedical Sciences, Hiroshima University, Hiroshima, Japan
    Arch Neurol 61:209-12. 2004
    ..However, some healthy subjects in SCA17 pedigrees carry alleles with the same number of expanded repeats as patients with SCA17...
  11. ncbi request reprint Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing
    Ryoichi Yagi
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan Department of Periodontal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan
    Neurobiol Aging 35:1780.e1-5. 2014
    ..T421M). Approximately 43% patients were APOEε4 positive in our study. This new sequencing technology is useful for detecting genetic variations in familial AD. ..
  12. doi request reprint Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease
    Yuishin Izumi
    From the Department of Neurology Y I, K N, F U, M K, Sumitomo Hospital, Osaka Department of Neurology Y I, R M, Tokushima University Hospital, Tokushima and Department of Epidemiology R M, H Morino, A Y, H Maruyama, H K, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
    Neurology 80:600-1. 2013
    ..1,2) Here, we report 4 novel homozygous SYNE1 mutations in 3 Japanese patients with cerebellar ataxia and their unique clinical and genetic characteristics...
  13. ncbi request reprint Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay
    Eiji Tanaka
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan
    Hiroshima J Med Sci 60:63-6. 2011
    ..Although this test cannot give a precise estimate of the size of the expansion, it proved useful for confirming the presence of expansions in SCA8...
  14. pmc Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system
    Hirofumi Maruyama
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University Hiroshima, Japan
    Am J Neurodegener Dis 2:35-9. 2013
    ..7%). The microchip electrophoresis system is semi-quantitative, convenient and useful for screening a large number of samples...
  15. pmc 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
    Hiroki Ueno
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
    J Med Case Rep 5:573. 2011
    ..abstract:..
  16. ncbi request reprint Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease
    Masaya Oda
    Third Department of Internal Medicine, Hiroshima University School of Medicine, 1 2 3 Kasumi, Minami Ku, Hiroshima 734 8551, Japan
    Neurosci Lett 320:105-7. 2002
    ..There were no significant differences between the AD and control groups in allele frequencies of each polymorphism. We conclude that these polymorphisms in the NEP gene do not contribute to genetic risk factors for sporadic AD...