| Description |
1 online resource (xv, 766 pages) : illustrations |
| Contents |
Overview. Overview of the field / Tetsuo Ashizawa and Robert D. Wells -- Myotonic dystrophy. Myotonic dystrophies: an overview / Tetsuo Ashizawa and Peter S. Harper. The RNA-mediated disease process in myotonic dystrophy / Charles A. Thornton, Maurice S. Swanson, and Thomas A. Cooper. cis Effects of CTG expansion in myotonic dystrophy type 1 / Sita Reddy and Sharan Paul. Normal and pathophysiological significance of myotonic dystrophy protein kinase / Derick G. Wansink, René E.M.A. van Herpen, and Bé Wieringa. Biochemistry of myotonic dystrophy protin kinase / Ram Singh and Henry F. Epstein. Clinical and genetic features of myotonic dystrophy type 2 / Jamie M. Margolis, Laura P.W. Ranum, and John W. Day. Myotonic dystrophy type 2: clinical and genetic aspects / Ralf Krahe, Linda L. Bachinski, and Bjarne Udd. The subtelomeric D4Z4 repeat instability in facioscapulohumeral muscular dystrophy / Silvére van der Maarel, Rune R. Frants, and George W. Padberg -- Fragile X syndrome. Fragile X syndrome and fragile X-associated tremor/ataxia syndrome / Randi J. Hagerman and Paul J. Hagerman. Animal models of fragile X syndrome: mice and flies / Ben A. Oostra and David L. Nelson. Chromosomal fragile sites: mechanisms of cytogenetic expression and pathogenic consequences / Robert I. Richards |
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Kennedy's disease. Clinical features and molecular biology of Kennedy's disease / CheunJu Chen and Kenneth H. Fischbeck -- Huntington's disease. Molecular pathogenesis and therapeutic targets in Huntington's disease / John S. Bett, Gillian P. Bates, and Emma Hockly. Molecular pathogenesis of Huntington's disease: the role of excitotoxicity / Mahmoud A. Pouladi [and others] Huntington's disease-like 2 / Russell L. Margolis [and others] -- Friedreich's ataxia. Friedreich's ataxia / Massimo Pandolfo. Experimental therapeutics for Friedreich's ataxia / Robert B. Wilson. Evolution and instability of the GAA triplet-repeat sequence in Friedreich's ataxia / Irene De Biase, Astrid Rasmussen, and Sanjay I. Bidichandani. Mouse models for Friedreich's ataxia / Hélène Puccio. Triplexes, sticky DNA, and the (GAA-TTC) trinucleotide repeat associated with Friedreich's ataxia / Leslie S. Son and Robert D. Wells |
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Spinocerebellar ataxias. Phosphorylation of ataxin-1: a link between basic research and clinical application in spinocerebellar ataxia type 1 / Kerri M. Carlson and Harry T. Orr. Spinocerebellar ataxia type 2 / Stefan M. Pulst. Machado-Joseph disease/spinocerebellar ataxia type 3 / Henry Paulson. Spinocerebellar ataxia type 6 / Hidehiro Mizusawa and Kinya Ishikawa. Pathogenesis of spinocerebellar ataxia type 7: new insights from mouse models and ataxin-7 function / Dominique Helmlinger and Didier Devys. Spinocerebellar ataxia type 7: clinical features to cellular pathogenesis / Gwenn A. Garden [and others] Molecular genetics of spinocerebellar ataxia type 8 / Yoshio Ikeda [and others] Spinocerebellar ataxia type 10: a disease caused by an expanded (ATTCT)n pentanucleotide repeat / Tetsuo Ashizawa. DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)n·(AGAAT)n repeats suggest a DNA amplification model for repeat expansion / Vladimir N. Potman [and others] Spinocerebellar ataxia type 12 / Susan E. Holmes [and others] Spinocerebellar ataxia 17 and Huntington's disease-like 4 / Giovanni Stevanin and Alexis Brice |
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Instability mechanisms in vivo and in vitro. Involvement of genetic recombination in microsatellite instability / Ruhee Dere, Micheal L. Hebert, and Marek Napierala. Bending the rules: unusual nucleic acid structures and disease pathology in the repeat expansion diseases / Karen Usdin. Replication of expandable DNA repeats / Sergei M. Mirkin. Error-prone repair of slipped (CTG)·(CAG) repeats and disease-associated expansions / Gagan B. Panigrahi [and others] DNA repair models for understanding triplet repeat instability / Yuan Liu, Rajendra Prasad, and Samuel H. Wilson. Models of repair underlying trinucleotide DNA expansion / Irina V. Kovtun and Cynthia T. McMurray. Transcription and triplet repeat instability / Yunfu Lin, Vincent Dion, and John H. Wilson. Structural characteristics of trinucleotide repeats in transcripts / Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak, and Marek Napierala -- Mutations in flanking sequences. Gross rearrangements caused by long triplet and other repeat sequences / Albino Bacolla [and others] -- Cancer and genetic instability. Microsatellite instability in cancer / Michael J. Siciliano |
| Summary |
This book describes everything about DNA repeat instability and neurological disorders, covering molecular mechanisms of repeat expansion, pathogenic mechanisms, clinical phenotype, parental gender effects, genotype-phenotype correlation, and diagnostic applications of the molecular data. This updated edition provides excellent updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This edition also features a CD-ROM containing all of the figures from the book. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students. * Includes a CD-ROM with all of the figures * Contributions by most of the principal research teams in the area, edited by world-renowned leaders * Lays the background for future investigations on related diseases |
| Analysis |
humane ziekten |
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human diseases |
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neurologie |
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neurology |
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zenuwstelselziekten |
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nervous system diseases |
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geestelijke stoornissen |
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mental disorders |
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mutaties |
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mutations |
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genetische factoren |
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genetic factors |
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Human Pathology |
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Humane pathologie |
| Notes |
Revised edition of: Genetic instabilities and hereditary neurological diseases / editors, Robert D. Wells, Stephen T. Warren; associate editor, Marion Sarmiento. ©1998 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Nervous system -- Diseases -- Genetic aspects
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Neurogenetics.
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Chromosome abnormalities.
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Genetic disorders.
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Nervous System Diseases -- genetics
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Chromosome Aberrations
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Genetic Diseases, Inborn
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Trinucleotide Repeats -- genetics
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HEALTH & FITNESS -- Diseases -- Nervous System (incl. Brain)
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MEDICAL -- Neurology.
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Genetic disorders
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Chromosome abnormalities
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Nervous system -- Diseases -- Genetic aspects
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Neurogenetics
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| Form |
Electronic book
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| Author |
Wells, R. D. (Robert D.)
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Ashizawa, Tetsuo
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| ISBN |
9780123694621 |
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0123694620 |
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9780080463612 |
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0080463614 |
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9780080463773 |
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0080463770 |
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