E-Book, Englisch, Band 19, 294 Seiten, eBook
Fry / Usdin Human Nucleotide Expansion Disorders
2006
ISBN: 978-3-540-33336-4
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
E-Book, Englisch, Band 19, 294 Seiten, eBook
Reihe: Nucleic Acids and Molecular Biology
ISBN: 978-3-540-33336-4
Verlag: Springer
Format: PDF
Kopierschutz: 1 - PDF Watermark
Human neurological and neuromuscular disorders caused by nucleotide expansion 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-studied disorders. The authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms.
Zielgruppe
Research
Autoren/Hrsg.
Weitere Infos & Material
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.




