Human Nucleotide Expansion Disorders

Human neurological and neuromuscular disorders caused by nucleotide expansion, first discovered in 1991, are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studie...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor Corporativo: SpringerLink (Online service)
Otros Autores: Fry, Michael (Editor ), Usdin, Karen (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2006.
Edición:1st ed. 2006.
Colección:Nucleic Acids and Molecular Biology, 19
Temas:
Neurosciences.
Medical genetics.
Cytology.
Biochemistry.
Neuroscience.
Medical Genetics.
Cell Biology.
Acceso en línea:Texto Completo
Tabla de Contenidos:
  • Molecular Bases of Nucleotide Expansions
  • Mechanisms of DNA Repeat Expansion
  • Disorders Associated with Non-coding Repeats
  • Molecular Correlates of Fragile X Syndrome and FXTAS
  • The Neglected Fragile X Mutations: FRAXE and FRAXF
  • Friedreich Ataxia
  • Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1
  • Myotonic Dystrophies Types 1 and 2
  • Spinocerebellar Ataxia Type 8
  • Recent Progress in Spinocerebellar Ataxia Type 10
  • Disorders Associated with Coding Repeats
  • Polyglutamine Diseases
  • The Enigma of Spinocerebellar Ataxia Type 6
  • Disorders Associated with Repeats in an Undetermined Location
  • Spinocerebellar Ataxia Type 12 and Huntington's Disease-Like 2: Clues to Pathogenesis
  • Postscript
  • Current Issues and Therapeutic Prospects.

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