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Author (up) Matsuishi, T. url  openurl
  Title [Rett syndrome: the state of research, and future perspectives] Type Journal Article
  Year 2013 Publication Nihon Rinsho. Japanese Journal of Clinical Medicine Abbreviated Journal Nihon Rinsho  
  Volume 71 Issue 11 Pages 2043-2053  
  Keywords Animals; Brain/metabolism/pathology; Diagnosis, Differential; Disease Models, Animal; Drug Design; Embryonic Stem Cells; Female; Forkhead Transcription Factors/genetics; Humans; Induced Pluripotent Stem Cells; Insulin-Like Growth Factor I; Methyl-CpG-Binding Protein 2; Mice; Molecular Targeted Therapy; Mutation; Nerve Tissue Proteins/genetics; Neurotransmitter Agents/physiology; Protein-Serine-Threonine Kinases/genetics; Regenerative Medicine; *Rett Syndrome/diagnosis/genetics/physiopathology/therapy  
  Abstract Rett syndrome (RTT) is a neurodevelopmental disorder characterized by normal early psychomotor development followed by the loss of psychomotor and acquired purposeful hand skills and the onset of stereotyped movement of the hands and gait disturbance. The causative gene was discovered, and the disease was found to be caused by a mutation of methyl-CpG-binding protein 2. However, in many ways this clinically peculiar condition remains a mystery. I review the current status of clinical and basic research on RTT including data on the neurophysiology of the disease, neurotransmitter involvement, neuroimaging and neuropathology findings, molecular biology, animal models, regenerative medicine including ES cells and iPS cells, and other interventions and therapeutic trials.  
  Address Department of Pediatrics and Child Health, Kurume University School of Medicine  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language Japanese Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0047-1852 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:24397181 Approved no  
  Call Number refbase @ user @ Serial 16851  
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