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Genetic instabilities and neurological diseases

紀錄類型:	書目-電子資源 : 單行本
正題名/作者:	Genetic instabilities and neurological diseases/ editors, Robert D. Wells, Tetsuo Ashizawa.
其他題名:	Genetic instabilities & neurological diseases
其他作者:
出版者:	Amsterdam ; Boston :Elsevier Academic Press, : c2006.,
面頁冊數:	xv, 766 p. :ill. ; : 29 cm. +; 1 CD-ROM. +
附註:	Rev. ed. of: Genetic instabilities and hereditary neurological diseases / editors, Robert D. Wells, Stephen T. Warren ; associate editor, Marion Sarmiento. c1998.
標題:
ISBN:	9780123694621

Genetic instabilities and neurological diseases
Genetic instabilities and neurological diseases[electronic resource] /Genetic instabilities & neurological diseaseseditors, Robert D. Wells, Tetsuo Ashizawa. - 2nd ed. - Amsterdam ; Boston :Elsevier Academic Press,c2006. - xv, 766 p. :ill. ;29 cm. +1 CD-ROM.

Rev. ed. of: Genetic instabilities and hereditary neurological diseases / editors, Robert D. Wells, Stephen T. Warren ; associate editor, Marion Sarmiento. c1998.

Includes bibliographical references and index.

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, Ren�e E.M.A. van Herpen, and B�e 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 / Silv�ere 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 --

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.

Electronic reproduction.
Amsterdam :
Elsevier Science & Technology,
2007.

Mode of access: World Wide Web.

ISBN: 9780123694621

Source: 111873:111960Elsevier Science & Technologyhttp://www.sciencedirect.comSubjects--Topical Terms:

72593

Index Terms--Genre/Form:

239592

LC Class. No.: RC346.4 / .G46 2006

Dewey Class. No.: 616.80442

National Library of Medicine Call No.: 2006 K-236

Genetic instabilities and neurological diseases
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245 0 0 $a Genetic instabilities and neurological diseases $h [electronic resource] / $c editors, Robert D. Wells, Tetsuo Ashizawa.
246 1 4 $a Genetic instabilities & neurological diseases
250 $a 2nd ed.
260 $a Amsterdam ; Boston : $c c2006. $b Elsevier Academic Press,
300 $a xv, 766 p. : $b ill. ; $c 29 cm. + $e 1 CD-ROM.
500 $a Rev. ed. of: Genetic instabilities and hereditary neurological diseases / editors, Robert D. Wells, Stephen T. Warren ; associate editor, Marion Sarmiento. c1998.
504 $a Includes bibliographical references and index.
505 0 $a 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, Ren�e E.M.A. van Herpen, and B�e 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 / Silv�ere 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 --
505 0 $a 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 ... [et al.] Huntington's disease-like 2 / Russell L. Margolis ... [et al.] -- 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 / H�el�ene Puccio. Triplexes, sticky DNA, and the (GAA-TTC) trinucleotide repeat associated with Friedreich's ataxia / Leslie S. Son and Robert D. Wells --
505 0 $a 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 ... [et al.] Molecular genetics of spinocerebellar ataxia type 8 / Yoshio Ikeda ... [et al.] 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 ... [et al.] Spinocerebellar ataxia type 12 / Susan E. Holmes ... [et al.] Spinocerebellar ataxia 17 and Huntington's disease-like 4 / Giovanni Stevanin and Alexis Brice --#0
520 $a 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.
533 $a Electronic reproduction. $b Amsterdam : $c Elsevier Science & Technology, $d 2007. $n Mode of access: World Wide Web. $n System requirements: Web browser. $n Title from title screen (viewed on Aug. 2, 2007). $n Access may be restricted to users at subscribing institutions.
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