Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Masami Shizuka"'
Autor:
Mitsunori Watanabe, Naima Bouslam, Patrick Calvas, A. M’zahem, J.-M. Warter, Paula Coutinho, Pascale Bomont, Christine Tranchant, Maria-Ceu Moreira, Massimo Pandolfo, Jean Pouget, Giovanni Stevanin, Alexis Brice, Alexandra Durr, Michel Koenig, Meriem Tazir, Christopher Shaw, M Tanaka, P. Mendonça, João Tiago Guimarães, I. Le Ber, Traki Benhassine, Mikio Shoji, Eimear Dunne, Patrick Aubourg, Andrea H. Németh, Masami Shizuka-Ikeda, Jörg B. Schulz, S Klur, Clara Barbot, J C Moniz, Louise Izatt, Ludger Schöls, Jorge Sequeiros
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Nat Genet. 2004 Mar;36(3):225-7. Epub 2004 Feb 8. Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Moreira MC, Klur S, Watanabe M, Németh AH, Le Ber I, Moniz JC, Tranchant C, Aubourg P, Tazir M, Schöls L, Pando
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d766003c560c87712d225a8c9a1c39
https://doi.org/10.1038/ng1303
https://doi.org/10.1038/ng1303
Autor:
Klaus Schmierer, Masami Shizuka, Antonio Federico, Jens Volkmann, Carlos Singer, Mitchell F. Brin, R Dengler, G Sorrentino, Meiner, Jan O. Aasly, Saeed Bohlega, Guy A. Rouleau, Nicolas Dupré, Y Ikeda, Nicholas W. Wood, IR Caballero, BI Karp, Sylvain Chouinard, FC Mercado, P. C. Trevisol-Bittencourt, Paul Maddison, Andrea H. Németh, Igor Sibon, J Arpa, Anthony P. Monaco, Lev G. Goldfarb, Mitsunori Watanabe, A Storch, M. T. Dotti, LP Hiersemenzel, S Johnson, Adrian Danek, R M Chalmers, G Geraud, M Tanaka, RJ Hardie, Luca Rampoldi, A J Lees, Alexander Lossos, Saidi A Mohiddin, Lameh Fananapazir, Massimo Zeviani, Carol Dobson-Stone, Alan Fryer
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b604f79ba9ee6e640b9f9de2a752807f
https://ora.ox.ac.uk/objects/uuid:3b1ebcfc-3452-49c2-9bc1-df31e1cc6ccb
https://ora.ox.ac.uk/objects/uuid:3b1ebcfc-3452-49c2-9bc1-df31e1cc6ccb
Autor:
Takeshi Kawarabayashi, Isao Nagano, Masami Shizuka-Ikeda, Mitsuyoshi Wakayama, Yasuhiro Manabe, Atsuko Kawakami, Tetsuro Murakami, Yoshio Ikeda, Masaki Ikeda, Mikio Shoji, Kazuko Fukushima, Yuka Sakazume, Etsuro Matsubara, Koji Abe, Yasuo Harigaya
Publikováno v:
Geriatrics & Gerontology International. 2:143-147
Background: The present study investigated when children acquire the cognitive abilities and daily living skills that are lost in Alzheimer's disease. Methods: Among a total of 1046 students in kindergarten and elementary schools affiliated with Gunm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de1810547daab9532e7caf191cd8e1ec
https://doi.org/10.1046/j.1444-1586.2002.00040.x
https://doi.org/10.1046/j.1444-1586.2002.00040.x
Autor:
Makoto Tanaka, Si-Young Song, Yasuo Harigaya, H. Takenoshita, M. Yaguchi, Mikio Shoji, Y. Igeta, Kazuyuki Ishida, Hidehiro Mizusawa, Hiroshi Mitoma, Masami Shizuka-Ikeda, Koichi Okamoto
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 70:386-389
Autoantibodies against glutamic acid decarboxylase (GAD) have been found in stiff-man syndrome, insulin dependent diabetes mellitus, and progressive cerebellar ataxia. A patient with progressive cerebellar ataxia is described who was positive for GAD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db689af4c27f86f3e8750f50dc33ad87
https://doi.org/10.1136/jnnp.70.3.386
https://doi.org/10.1136/jnnp.70.3.386
Autor:
Etsuro Matsubara, Masami Shizuka, Shunsaku Hirai, Yoshio Ikeda, Yasushi Tomidokoro, Koichi Okamoto, Mitsuyasu Kanai, Masaki Ikeda, Yasuo Harigaya, Mikio Shoji
Publikováno v:
Neurobiology of Aging. 22:209-215
Decreased levels of cerebrospinal fluid (CSF) Abeta42 is a diagnostic marker of Alzheimer's disease. To clarify the biological basis of this marker, the physiological alterations of CSF Abeta40 and Abeta42 by aging were studied. CSF samples from 92 n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf5ef2f39d6ba5eb38f0208e154da730
https://doi.org/10.1016/s0197-4580(00)00229-3
https://doi.org/10.1016/s0197-4580(00)00229-3
Autor:
Mikio Shoji, Koichi Okamoto, Michèle Schmitt, Mitsunori Watanabe, Yoshio Ikeda, Masami Shizuka-Ikeda
Publikováno v:
Journal of the Neurological Sciences. 182:76-79
Spinocerebellar ataxia type 8 (SCA8) is the first example of dominantly inherited ataxia reported to be caused by a dynamic mutation of the untranslated CTG trinucleotide repeat. We performed genetic and clinical analyses of a family with an isolated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19091d011ec2205a42f89733756258bd
https://doi.org/10.1016/s0022-510x(00)00446-9
https://doi.org/10.1016/s0022-510x(00)00446-9
Autor:
Jinpei Sugano, Ruth Gershoni-Barush, Christophe Guiraud-Chaumeil, Michel Koenig, Makoto Tanaka, Mitsunory Watanabe, Pascale Bomont, Masami Shizuka
Publikováno v:
European Journal of Human Genetics. 8:986-990
With the availability of a simple molecular test that distinguishes Friedreich ataxia, the most frequent form of inherited ataxia, from other recessive ataxias, it now becomes possible to unravel the genetic heterogeneity of the latter. We have now l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b4f865ce2cf69e8bfe500fd651c148
https://doi.org/10.1038/sj.ejhg.5200586
https://doi.org/10.1038/sj.ejhg.5200586
Autor:
Takaomi C. Saido, Takeshi Kawarabayashi, Koichi Okamoto, Yasuo Harigaya, Etsuro Matsubara, Masahiro Sato, Atsushi Sasaki, Koji Ishiguro, Masami Shizuka, Masaki Ikeda, Mikio Shoji, Yasushi Tomidokoro, Mitsuyasu Kanai, Shunsaku Hirai
Publikováno v:
The Journal of Pathology. 191:93-101
In view of the importance of amyloid beta protein accumulation in Alzheimer's disease, this paper examines age-related amyloid beta protein (Abeta) deposition and accompanying cellular changes in a mouse model in vivo. Transgenic mice were studied wh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ac430b79b44f8a0906a9f690e933529
https://doi.org/10.1002/(sici)1096-9896(200005)191:1<93::aid-path567>3.0.co
https://doi.org/10.1002/(sici)1096-9896(200005)191:1<93::aid-path567>3.0.co
Autor:
Atsushi Sasaki, Masami Shizuka, Masaki Ikeda, Mikio Shoji, Yasushi Tomidokoro, Mitsuyasu Kanai, Etsuro Matsubara, Kenji Kosaka, Yasuo Harigaya, Masakuni Amari, Yoichi Nakazato, Koji Ishiguro, Mitsunori Watanabe, Shunsaku Hirai, Kenji Uéda, Koichi Okamoto
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 68:605-608
OBJECTIVES NACP/α-synuclein is an aetiological gene product in familial Parkinson9s disease. To clarify the pathological role of NACP/α-synuclein in sporadic Parkinson9s disease and other related disorders including diffuse Lewy body disease (DLBD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78854bff0d30f70cd3551f4ee2d02806
https://doi.org/10.1136/jnnp.68.5.605
https://doi.org/10.1136/jnnp.68.5.605
Publikováno v:
Neurology. 54:950-955
Objective: To clarify the molecular and clinical features of the newly identified spinocerebellar ataxia type 8 (SCA8). Methods: We analyzed the CTG repeat region of the SCA8 gene in a series of Japanese patients with cerebellar ataxia. We also inves
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6159beed69704b2df05fa8351811e8d0
https://doi.org/10.1212/wnl.54.4.950
https://doi.org/10.1212/wnl.54.4.950