Art

J-GLOBAL ID：201902250263987425   Reference number：19A2830024

Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion

脊髄性筋萎縮症:SMN1欠失のためのリアルタイムMCOP-PCRとPCR-RFLPによるスクリーニングシステムの先進版

Author (16)： NIBA Emma Tabe Eko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  AR ROCHMAH Mawaddah (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  HARAHAP Nur Imma Fatimah (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  AWANO Hiroyuki (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MORIOKA Ichiro (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  IIJIMA Kazumoto (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  TAKESHIMA Yasuhiro (Hyogo Coll. of Medicine, Nishinomiya, JPN) ,  SAITO Toshio (National Hospital Organization Toneyama National Hospital, Toneyama, JPN) ,  SAITO Kayoko (Tokyo Women’s Medical Univ., Tokyo, JPN) ,  TAKEUCHI Atsuko (Kobe Pharmaceutical Univ., Kobe, JPN) ,  LAI Poh San (National Univ. Singapore, Singapore) ,  BOUIKE Yoshihiro (Kobe Gakuin Univ., Kobe, JPN) ,  MATSUO Masafumi (Kobe Gakuin Univ., Kobe, JPN) ,  NISHIO Hisahide (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NISHIO Hisahide (Kobe Gakuin Univ., Kobe, JPN) ,  SHINOHARA Masakazu (Kobe Univ. Graduate School of Medicine, Kobe, JPN)
Material： Kobe Journal of Medical Sciences (Web)  (Kobe J Med Sci (Web))
Volume： 65  Issue： 2  Page： E49-E53  Publication year： 2019 
JST Material Number： U0095A  ISSN： 1883-0498  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *movement disorder ,...
Semi thesaurus term： *Muscular Atrophy, Spinal ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=19A2830024&from=J-GLOBAL&jstjournalNo=U0095A") }}

JST classification (1)： Neurologic diagnosis  (GN02000H)

Reference (12)：

• Ar Rochmah, M., Harahap, N.I.F., Niba, E.T.E., et al. 2017. Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA. Brain Dev. 39:774-782.
• Brzustowicz, L.M., Lehner, T., Castilla, L.H., et al. 1990. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 344: 540-541.
• Burghes, A.H. and Beattie, C.E. 2009. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 10: 597-609.
• Finkel, R.S., Chiriboga, C.A., Vajsar, J., et al. 2016 Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 388:3017-3026.
• Kato, N., Sa'Adah, N., Ar Rochmah, M., et al. 2014. SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test. Kobe J Med Sci. 60: E78-85.

Terms in the title (6)： 脊髄性筋萎縮症 ,  欠失 ,  リアルタイム ,  PCR ,  PCR-RFLP ,  スクリーニングシステム