Human Nucleotide Expansion Disorders

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Fry, Michael (Επιμελητής έκδοσης), Usdin, Karen (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg, 2006.
• Σειρά: Nucleic Acids and Molecular Biology, 19
• Θέματα: Life sciences.; Human genetics.; Neurosciences.; Biochemistry.; Cell biology.; Neurobiology.; Life Sciences.; Human Genetics.; Cell Biology.; Biochemistry, general.

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...

Πίνακας περιεχομένων:

• 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.