Art

J-GLOBAL ID：200902279143110806   Reference number：08A0363869

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

家族性および特発性筋萎縮性側索硬化症におけるTDP-43突然変異

Author (21)： SREEDHARAN Jemeen (King’s Coll. London, London, GBR) ,  BLAIR Ian P. (Australian and New Zealand Army Corps(ANZAC) Res. Inst., NSW, AUS) ,  BLAIR Ian P. (Univ. Sydney, NSW, AUS) ,  TRIPATHI Vineeta B. (King’s Coll. London, London, GBR) ,  HU Xun (King’s Coll. London, London, GBR) ,  VANCE Caroline (King’s Coll. London, London, GBR) ,  ROGELJ Boris (King’s Coll. London, London, GBR) ,  ACKERLEY Steven (King’s Coll. London, London, GBR) ,  DURNALL Jennifer C. (Australian and New Zealand Army Corps(ANZAC) Res. Inst., NSW, AUS) ,  WILLIAMS Kelly L. (Australian and New Zealand Army Corps(ANZAC) Res. Inst., NSW, AUS) ,  BURATTI Emanuele (International Centre for Genetic Engineering and Biotechnology, Trieste, ITA) ,  BARALLE Francisco (International Centre for Genetic Engineering and Biotechnology, Trieste, ITA) ,  DE BELLEROCHE Jacqueline (Imperial Coll. London, London, GBR) ,  MITCHELL J.Douglas (Royal Preston Hospital, Preston, GBR) ,  LEIGH P.Nigel (King’s Coll. London, London, GBR) ,  AL-CHALABI Ammar (King’s Coll. London, London, GBR) ,  MILLER Christopher C. (King’s Coll. London, London, GBR) ,  NICHOLSON Garth (Australian and New Zealand Army Corps(ANZAC) Res. Inst., NSW, AUS) ,  NICHOLSON Garth (Univ. Sydney, NSW, AUS) ,  NICHOLSON Garth (Concord Repatriation General Hospital, NSW, AUS) ,  SHAW Christopher E. (King’s Coll. London, London, GBR)
Material： Science
Volume： 319  Issue： 5870  Page： 1668-1672  Publication year： Mar. 21, 2008 
JST Material Number： E0078A  ISSN： 0036-8075  CODEN： SCIEA  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,  *amyotrophic lateral sclerosis ,  hereditary disease ,  mutation ,  neuromuscular disease ,  DNA binding protein ,  pathology ,  gene ,  genome ,  neuron ,  apoptosis
Semi thesaurus term： Motor Neuron Disease ,  *家族性筋萎縮性側索硬化症 ,  *特発性筋萎縮性側索硬化症

JST classification (3)： Nervous system diseases  (GN03000O) ,  Musculoskeletal diseases  (GG03000T) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (3)： 家族 ,  筋萎縮性側索硬化症 ,  突然変異