matsura toru

FacultyInternalMedicineNeurology
Job titleProfessorWeb site

Profile

Research Areas

  • Biological science / Molecular biology
  • Basic medicine / Human genetics
  • Clinical internal medicine / Neurology

Career

  • 1998
    - Postdoctoral Fellow, Neurology, Baylor College of Medicine
  • 2000
    - Instructor, Neurology, Baylor College of Medicine
  • 2002
    - Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine

Academic Societies

  • American Society of Human Genetics (ASHG)
  • The Society for Neuroscience (SFN)
Display all
Academic Societiesclose
  • American Society of Human Genetics (ASHG)
  • The Society for Neuroscience (SFN)

Research Activities

Papers(paper)

  • Vertical Gaze Palsy Caused by Selective Unilateral Rostral Midbrain Infarction.
    Yokose M, Furuya K, Suzuki M, Ozawa T, Kim Y, Miura K, Matsuzono K, Mashiko T, Tada M, Koide R, Shimazaki H, Matsuura T, Fujimoto S
    Neuro-ophthalmology (Aeolus Press) 42(5) 309-311 Oct. 2018
  • Tissue Plasminogen Activator to Treat a Stroke after Foam Sclerotherapy in a Woman with a Patent Foramen Ovale.
    Matsuzono K, Arai N, Suzuki M, Kim Y, Ozawa T, Mashiko T, Shimazaki H, Koide R, Matsuura T, Fujimoto S
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 27(6) e110-e112 Jun. 2018
  • Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates.
    Mashiko T, Sakashita E, Kasashima K, Tominaga K, Kuroiwa K, Nozaki Y, Matsuura T, Hamamoto T, Endo H
    The Journal of biological chemistry 291(29) 14996-15007 Jul. 2016
  • Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy.
    Chen G, Masuda A, Konishi H, Ohkawara B, Ito M, Kinoshita M, Kiyama H, Matsuura T, Ohno K
    Scientific reports 6 25317 Apr. 2016
  • A lethal intracranial Rosai-Dorfman disease of the brainstem diagnosed at autopsy.
    Imada H, Sakatani T, Sawada M, Matsuura T, Fukushima N, Nakano I
    Pathology international 65(10) 549-553 Oct. 2015
  • Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.
    Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS
    PLoS genetics 11(1) e1004834 Jan. 2015
  • Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: a case report.
    Kameda T, Namekawa M, Shimazaki H, Minakata D, Matsuura T, Nakano I
    Cephalalgia : an international journal of headache 34(13) 1093-1096 Nov. 2014
  • LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.
    Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, Sahashi K, Ohno K
    Neurobiology of disease 69 200-205 Sep. 2014
  • Seven amyotrophic lateral sclerosis patients diagnosed only after development of respiratory failure.
    Sato K, Morimoto N, Deguchi K, Ikeda Y, Matsuura T, Abe K
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 21(8) 1341-1343 Aug. 2014
  • Tissue plasminogen activator thrombolytic therapy for acute ischemic stroke in 4 hospital groups in Japan.
    Kono S, Deguchi K, Morimoto N, Kurata T, Deguchi S, Yamashita T, Ikeda Y, Matsuura T, Narai H, Omori N, Manabe Y, Yunoki T, Takao Y, Kawata S, Kashihara K, Abe K
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 22(3) 190-196 Apr. 2013
Display all
Papers(paper)close
  • Vertical Gaze Palsy Caused by Selective Unilateral Rostral Midbrain Infarction.
    Yokose M, Furuya K, Suzuki M, Ozawa T, Kim Y, Miura K, Matsuzono K, Mashiko T, Tada M, Koide R, Shimazaki H, Matsuura T, Fujimoto S
    Neuro-ophthalmology (Aeolus Press) 42(5) 309-311 Oct. 2018
  • Tissue Plasminogen Activator to Treat a Stroke after Foam Sclerotherapy in a Woman with a Patent Foramen Ovale.
    Matsuzono K, Arai N, Suzuki M, Kim Y, Ozawa T, Mashiko T, Shimazaki H, Koide R, Matsuura T, Fujimoto S
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 27(6) e110-e112 Jun. 2018
  • Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates.
    Mashiko T, Sakashita E, Kasashima K, Tominaga K, Kuroiwa K, Nozaki Y, Matsuura T, Hamamoto T, Endo H
    The Journal of biological chemistry 291(29) 14996-15007 Jul. 2016
  • Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy.
    Chen G, Masuda A, Konishi H, Ohkawara B, Ito M, Kinoshita M, Kiyama H, Matsuura T, Ohno K
    Scientific reports 6 25317 Apr. 2016
  • A lethal intracranial Rosai-Dorfman disease of the brainstem diagnosed at autopsy.
    Imada H, Sakatani T, Sawada M, Matsuura T, Fukushima N, Nakano I
    Pathology international 65(10) 549-553 Oct. 2015
  • Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.
    Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS
    PLoS genetics 11(1) e1004834 Jan. 2015
  • Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: a case report.
    Kameda T, Namekawa M, Shimazaki H, Minakata D, Matsuura T, Nakano I
    Cephalalgia : an international journal of headache 34(13) 1093-1096 Nov. 2014
  • LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.
    Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, Sahashi K, Ohno K
    Neurobiology of disease 69 200-205 Sep. 2014
  • Seven amyotrophic lateral sclerosis patients diagnosed only after development of respiratory failure.
    Sato K, Morimoto N, Deguchi K, Ikeda Y, Matsuura T, Abe K
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 21(8) 1341-1343 Aug. 2014
  • Tissue plasminogen activator thrombolytic therapy for acute ischemic stroke in 4 hospital groups in Japan.
    Kono S, Deguchi K, Morimoto N, Kurata T, Deguchi S, Yamashita T, Ikeda Y, Matsuura T, Narai H, Omori N, Manabe Y, Yunoki T, Takao Y, Kawata S, Kashihara K, Abe K
    Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 22(3) 190-196 Apr. 2013
  • A patient with anti-aquaporin 4 antibody presenting hypersomnolence as the initial symptom and symmetrical hypothalamic lesions.
    Deguchi K, Kono S, Deguchi S, Morimoto N, Ikeda M, Kurata T, Ikeda Y, Matsuura T, Kanbayashi T, Takahashi T, Abe K
    Journal of the neurological sciences 312(1-2) 18-20 Jan. 2012
  • Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
    Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K
    Human genetics 130(5) 671-683 Nov. 2011
  • Amlodipine and atorvastatin exert protective and additive effects via antiapoptotic and antiautophagic mechanisms after transient middle cerebral artery occlusion in Zucker metabolic syndrome rats.
    Zhang X, Deguchi S, Deguchi K, Ohta Y, Yamashita T, Shang J, Tian F, Liu N, Liu W, Ikeda Y, Matsuura T, Abe K
    Journal of neuroscience research 89(8) 1228-1234 Aug. 2011
  • Correlation of cerebral spinal fluid pH and HCO3- with disease progression in ALS.
    Morimoto N, Deguchi K, Sato K, Yunoki T, Deguchi S, Ohta Y, Kurata T, Takao Y, Ikeda Y, Matsuura T, Abe K
    Journal of the neurological sciences 307(1-2) 74-78 Aug. 2011
  • Neurological and pathological improvements of cerebral infarction in mice with platinum nanoparticles.
    Takamiya M, Miyamoto Y, Yamashita T, Deguchi K, Ohta Y, Ikeda Y, Matsuura T, Abe K
    Journal of neuroscience research 89(7) 1125-1133 Jul. 2011
  • Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.
    Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A
    American journal of human genetics 89(1) 121-130 Jul. 2011
  • Disruption of neurovascular unit prior to motor neuron degeneration in amyotrophic lateral sclerosis.
    Miyazaki K, Ohta Y, Nagai M, Morimoto N, Kurata T, Takehisa Y, Ikeda Y, Matsuura T, Abe K
    Journal of neuroscience research 89(5) 718-728 May 2011
  • Comparisons of acoustic function in SCA31 and other forms of ataxias.
    Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
    Neurological research 33(4) 427-432 May 2011
  • [RNA-mediated disease mechanism of spinocerebellar ataxia type 10].
    Matsuura T
    Rinsho shinkeigaku = Clinical neurology 50(11) 984 Nov. 2010
  • Antiapoptotic and antiautophagic effects of glial cell line-derived neurotrophic factor and hepatocyte growth factor after transient middle cerebral artery occlusion in rats.
    Shang J, Deguchi K, Yamashita T, Ohta Y, Zhang H, Morimoto N, Liu N, Zhang X, Tian F, Matsuura T, Funakoshi H, Nakamura T, Abe K
    Journal of neuroscience research 88(10) 2197-2206 Aug. 2010
  • Tridermal tumorigenesis of induced pluripotent stem cells transplanted in ischemic brain.
    Kawai H, Yamashita T, Ohta Y, Deguchi K, Nagotani S, Zhang X, Ikeda Y, Matsuura T, Abe K
    Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 30(8) 1487-1493 Aug. 2010
  • Induction of parkinsonism-related proteins in the spinal motor neurons of transgenic mouse carrying a mutant SOD1 gene.
    Morimoto N, Nagai M, Miyazaki K, Ohta Y, Kurata T, Takehisa Y, Ikeda Y, Matsuura T, Asanuma M, Abe K
    Journal of neuroscience research 88(8) 1804-1811 Jun. 2010
  • Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene.
    Kurosaki T, Matsuura T, Ohno K, Ueda S
    Molecular biology and evolution 26(11) 2573-2579 Nov. 2009
  • Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
    Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H
    American journal of human genetics 85(5) 544-557 Nov. 2009
  • Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.
    Bian Y, Masuda A, Matsuura T, Ito M, Okushin K, Engel AG, Ohno K
    Human molecular genetics 18(7) 1229-1237 Apr. 2009
  • Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10).
    PLoS One 4 e4553 2009
  • The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.
    Gene 434 29-34 2009
  • [Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].
    Matsuura T
    Rinsho shinkeigaku = Clinical neurology 48(11) 823-825 Nov. 2008
  • [Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)].
    Matsuura T
    Rinsho shinkeigaku = Clinical neurology 48(1) 1-10 Jan. 2008
  • HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome.
    Hum Mol Genet 17 4022-4035 2008
  • Human branch point consensus sequence is yUnAy.
    GAO Kaiping, MASUDA Akio, MATSUURA Tohru, OHNO Kinji
    Nucleic Acids Research 36(7) 2257-2267 2008
  • Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.
    Neurogenetics 9 151-152 2008
  • Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
    Eur J Hum Genet 16 215-222 2008
  • Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families.
    Neurogenetics 9 61-63 2008
  • In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
    SAHASHI Kentaro, MASUDA Akio, MATSUURA Tohru, SHINMI Jun, ZHANG Zhujun, TAKESHIMA Yasuhiro, MATSUO Masafumi, SOBUE Gen, OHNO Kinji
    Nucleic Acids Research 35(18) 5995-6003 2007
  • Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities.
    Nucleic Acids Research 35 e123 2007
  • The role of ataxin 10 in spinocerebellar ataxia type 10 pathogenesis.
    Neurology 67 607-613 2006
  • Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.
    Neurology 66 1602-1604 2006
  • Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10. Repeat purity as a disease modifier?
    MATSUURA Tohru, FANG Ping, PEARSON Christopher E., PEARSON Christopher E., JAYAKAR Parul, ASHIZAWA Tetsuo, ROA Benjamin B., NELSON David L.
    Am J Hum Genet 78(1) 125-129 2006
  • A rare truncating mutation in ADH1C (G78stop) shows significant association with Parkinson’s disease in a large international sample.
    Arch Neurol 62 74-78 2005
  • FXTAS, SCA10, and SCA17 in American patients with movement disorders.
    Am J Med Genet A. 136 87-89 2005
  • Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay.
    J Mol Diag 6 96-100 2004
  • Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.
    Brain 127 1172-1181 2004
  • Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
    Am J Hum Genet 74 1216-1224 2004
  • Unpaired Structures in SCA10 (ATTCT)(n).(AGAAT)(n) Repeats.
    POTAMAN V N, BISSLER J J, HASHEM V I, OUSSATCHEVA E A, LU L, SHLYAKHTENKO L S, LYUBCHENKO Y L, MATSUURA T, ASHIZAWA T
    J Mol Biol 326(4) 1095-1111 2003
  • Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant.
    Neurobiol Dis 13 147-157 2003
  • Huntington’s disease-like 2 can present as chorea-acanthocytosis.
    Neurology 61 1002-1004 2003
  • Neurophysiological findings in SPG4 are variable, dependent on the type of spastin mutation.
    Neurology e-letters 2003
  • Benzdiynes (1,2,4,5-tetradehydrobenzenes): direct observation by wavelength-selective photolyses of benzenetetracarboxylic dianhydrides in low-temperature nitrogen matrixes.
    Sato T, Arulmozhiraja S, Niino H, Sasaki S, Matsuura T, Yabe A
    Journal of the American Chemical Society 124(16) 4512-4521 Apr. 2002
  • Spastin gene mutation in Japanese with hereditary spastic paraplegia.
    J Med Genet 39 46 2002
  • Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.
    Arch Neurol 59 1285-1290 2002
  • Spinocerebellar ataxia type 10 in the French population.
    Ann Neurol 51 408-409 2002
  • Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.
    Neurology 58 983-984 2002
  • Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10.
    Ann Neurol 51 271-272 2002
  • Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.
    Matsuura T, Ashizawa T
    Advances in experimental medicine and biology 516 79-97 2002
  • Alcohol dehydrogenase polymorphism and Parkinson's disease.
    Neurosci Lett 305 70-72 2001
  • Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.
    Ann Neurol 50 234-239 2001
  • A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
    Neurology 55 1697-1703 2000
  • Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.
    Neurology 55 224-230 2000
  • Polymorphism of NACP-Rep 1 in Parkinson’s disease: An etiologic link with essential tremor?
    Neurology 54 1195-1198 2000
  • Genetic localization of the CA2+ channel gene Cacng2 near SCA10 on chromosome 22q13.
    Epilepsia 41 24-27 2000
  • Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
    MATSUURA T, YAMAGATA T, RASMUSSEN A, GREWAL R P, WATASE K, ZU L, ACHARI M, ZOGHBI H Y, ASHIZAWA T
    Nat Genet 26(2) 191-194 2000
  • Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2.
    J Neurol 246 835-839 1999
  • Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.
    Ann Neurol 45 407-411 1999
  • Suatained release dosage of thyrotropin-releasing hormone improves experimental Japanese encephalitis virus-induced parkinsonism rats.
    J Neurol Sci 159 135-139 1998
  • SCA6 mutation analysis in the large cohort with late-onset pure cerebellar ataxia.
    J Neurol Sci 156 89-95 1998
  • Atypical MR findings in Wilson disease: marked lesions in the dentate nucleus causing tremor.
    J Neurol Neurosurg Psychiatry 64 160 1998
  • Autosomal dominant spastic paraplegia linked to chromosome 2p: clinical and genetic studies of a large Japanese pedigree.
    J Neurol Sci 151 65-70 1997
  • The reduction of androgen receptor mRNA in motoneurons of X-linked spinal and bulbar muscualr atrophy.
    J Neurol Sci 150 161-165 1997
  • CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.
    J Neurol Sci 133 28-133 1995
  • Expression of androgen receptor in X-linked spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis.
    J Neurol Neurosurg Psychiatry 57 1274-1275 1994
  • Unusual complications caused by endo-clip migration following a laparoscopic cholecystectomy: report of a case.
    SATO T, DENNO R, YUYAMA Y, MATSUURA T, KANISAWA Y, HIRATA K
    Surg Today 24(4) 360-362 1994
  • Identification of androgen receptor in the rat spinal motoneurons, immunohistochemical and immunoblotting analyses with monoclonal antibody.
    MATSUURA T, OGATA A, DEMURA T, MORIWAKA F, TASHIRO K, KOYANAGI T, NAGASHIMA K
    Neurosci Lett 158(1) 5-8 1993
  • Androgen receptor abnormality in X-linked spinal and bulbar muscular atrophy.
    Neurology 42 1724-1726 1992
  • Minocycline-related lupus
    Lancet 340 1553 1992
  • Migartion of “endo-clips” into common bile duct after laparoscopic cholecystectomy.
    Lancet 340 306 1992
  • A case of Kennedy-Alter-Sung syndrome with type IIa hyperlipidemia. (*corresponding author); Study on sex hormone receptor and lipid metabolism.
    臨床神経学 31 291-295 1991

Conference Presentations

  • Pancreatic Cancer in FXTAS Individual: Altered DNA Damage Response?
    MATSUURA Tohru
    9th International Conference on Unstable Microsatellites & Human Disease 22 Apr. 2018
  • RNA disease mechanism in DM1 and SCA10 brain
    MATSUURA Tohru
    29 Jul. 2015
  • Parkinsonism in SCAs
    MATSUURA Tohru
    13th International Parkinson’s Disease Symposium in Takamatsu (iPDST) 21 Feb. 2014
  • RNA-mediated disease mechanism of spinocerebellar ataxia type 10
    MATSUURA Tohru
    7th International Conference on Unstable Microsatellites & Human Disease 13 Jun. 2012
  • RNA-mediated disease mechanism of spinocerebellar ataxia type 10
    MATSUURA Tohru
    22 May 2010
  • Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 1
    MATSUURA Tohru
    7th International Myotonic Dystrophy Consortium Meeting 10 Sep. 2009
  • Myotonic dystrophy type 2 in Japan: distinct ancestral origin from Caucasian families
    MATSUURA Tohru
    6th international Myotonic Dystrophy Consortium Meeting 13 Sep. 2007
  • SCA10 Update
    MATSUURA Tohru
    2005 Annual Membership Meeting of National Ataxia Foundation 04 Mar. 2005
  • Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    MATSUURA Tohru
    125th Annual Meeting of the American Neurological Association 16 Oct. 2000
  • Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    MATSUURA Tohru
    50th Annual Meeting of the American Society of Human Genetics 07 Oct. 2000
Display all
Conference Presentationsclose
  • Pancreatic Cancer in FXTAS Individual: Altered DNA Damage Response?
    MATSUURA Tohru
    9th International Conference on Unstable Microsatellites & Human Disease 22 Apr. 2018
  • RNA disease mechanism in DM1 and SCA10 brain
    MATSUURA Tohru
    29 Jul. 2015
  • Parkinsonism in SCAs
    MATSUURA Tohru
    13th International Parkinson’s Disease Symposium in Takamatsu (iPDST) 21 Feb. 2014
  • RNA-mediated disease mechanism of spinocerebellar ataxia type 10
    MATSUURA Tohru
    7th International Conference on Unstable Microsatellites & Human Disease 13 Jun. 2012
  • RNA-mediated disease mechanism of spinocerebellar ataxia type 10
    MATSUURA Tohru
    22 May 2010
  • Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 1
    MATSUURA Tohru
    7th International Myotonic Dystrophy Consortium Meeting 10 Sep. 2009
  • Myotonic dystrophy type 2 in Japan: distinct ancestral origin from Caucasian families
    MATSUURA Tohru
    6th international Myotonic Dystrophy Consortium Meeting 13 Sep. 2007
  • SCA10 Update
    MATSUURA Tohru
    2005 Annual Membership Meeting of National Ataxia Foundation 04 Mar. 2005
  • Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    MATSUURA Tohru
    125th Annual Meeting of the American Neurological Association 16 Oct. 2000
  • Large expansion of ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
    MATSUURA Tohru
    50th Annual Meeting of the American Society of Human Genetics 07 Oct. 2000
  • Japanese myotonic dystrophy type 2 patients carry a haplotype different from the European founder haplotype
    MATSUURA Tohru
    11th International myotonic dystrophy consortium meeting (IDMC-11) 07 Sep. 2017

Book

  • Genetics of Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development
    MATSUURA Tohru(Joint Work Myotonic Dystrophy)
    Springer Jan. 2018
  • Spinocerebellar Ataxia Type 10 in: GeneReviews at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org. 2006
  • 非翻訳領域リピート病のRNA病態.
    Medical Science Digest 2006
  • SCA10の分子遺伝学.
    神経研究の進歩 2006
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2004. Available at www.genetests.org . 2004
  • Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.
    Adv Exp Med Biol 2002
  • Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion. In: Trinucleotide Expansions and Human Diseases.
    Timchenko L ed. Landes Bioscience, Georgetown 2002
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2002. Available at www.genetests.org . 2002
  • Spinocerebellar ataxia type 10. In: Genetics of Movement Disorders.
    Pulst SM ed. Academic Press, San Diego 2001
  • SCA10遺伝子の同定―新しいリピート (pentanucleotide repeat) 病.
    臨床神経学 2001
Display all
Bookclose
  • Genetics of Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development
    MATSUURA Tohru(Joint Work Myotonic Dystrophy)
    Springer Jan. 2018
  • Spinocerebellar Ataxia Type 10 in: GeneReviews at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org. 2006
  • 非翻訳領域リピート病のRNA病態.
    Medical Science Digest 2006
  • SCA10の分子遺伝学.
    神経研究の進歩 2006
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2004. Available at www.genetests.org . 2004
  • Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion.
    Adv Exp Med Biol 2002
  • Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion. In: Trinucleotide Expansions and Human Diseases.
    Timchenko L ed. Landes Bioscience, Georgetown 2002
  • Spinocerebellar Ataxia Type 10 in: /GeneReviews /at GeneTests: Medical Genetics Information Resource.
    Copyright, University of Washington, Seattle. 1997-2002. Available at www.genetests.org . 2002
  • Spinocerebellar ataxia type 10. In: Genetics of Movement Disorders.
    Pulst SM ed. Academic Press, San Diego 2001
  • SCA10遺伝子の同定―新しいリピート (pentanucleotide repeat) 病.
    臨床神経学 2001
  • A glycoprotein detected with peanut agglutin: a specific marker of myelin and human lymphocyte lines. In: Japan intractable diseases research foundation publication No.26 Neuroimmunological diseases, recent in pathogenesis and treatment
    Igata A ed., University of Tokyo Press, Tokyo 1989

Prize

  • 2003 Young Investigator Award, National Ataxia Foundation,
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Prizeclose
  • 2003 Young Investigator Award, National Ataxia Foundation,

Industrial Property Rights

  • DNA TEST FOR SCA-10

Works

  • Research Grants from National Ataxia Foundation, MN, USA ($25,000) “The role of interruptions in SCA10 expansion and disease”
    2005-2005
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from NORD ($40,000) “Characterization of the SCA10 ATTCT Expansion and Implications of the Sequence Configurations”
    2005-2005
  • Young Investigator Award from National Ataxia Foundation, MN, USA  ($100,000) “RNA disease mechanism in spinocerebellar ataxia type 10”
    2003-2004
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from National Organization for Rare Disorders (NORD), CT, USA ($40,000) “Complete survey of SCA10 mutation in multiethnic ataxia patients”
    2003-2004
  • Research Grants from National Ataxia Foundation, MN, USA ($30,000) “Search for an expansion mutation of ATTCT/AGAAT repeats in unassigned ataxia patients”
    2002-2002
  • Research Grants from National Ataxia Foundation, MN, USA ($10,000) “Instability of the expanded SCA10 ATTCT pentanucleotide repeat ”
    2001-2001
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  • Research Grants from National Ataxia Foundation, MN, USA ($25,000) “The role of interruptions in SCA10 expansion and disease”
    2005-2005
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from NORD ($40,000) “Characterization of the SCA10 ATTCT Expansion and Implications of the Sequence Configurations”
    2005-2005
  • Young Investigator Award from National Ataxia Foundation, MN, USA  ($100,000) “RNA disease mechanism in spinocerebellar ataxia type 10”
    2003-2004
  • Research Grants (Olivopontocerebellar atrophy and related disorders) from National Organization for Rare Disorders (NORD), CT, USA ($40,000) “Complete survey of SCA10 mutation in multiethnic ataxia patients”
    2003-2004
  • Research Grants from National Ataxia Foundation, MN, USA ($30,000) “Search for an expansion mutation of ATTCT/AGAAT repeats in unassigned ataxia patients”
    2002-2002
  • Research Grants from National Ataxia Foundation, MN, USA ($10,000) “Instability of the expanded SCA10 ATTCT pentanucleotide repeat ”
    2001-2001


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