大葉大學圖書館 |

Genetic instabilities and neurological diseases[electronic resource] /

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
杜威分類號:	616.80442
書名/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:	Wells, R. D.
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:	Nervous System Diseases - genetics.
標題:	Chromosome Aberrations.
標題:	Genetic Diseases, Inborn.
標題:	Trinucleotide Repeats - genetics.
標題:	Nervous system - Diseases
標題:	Neurogenetics.
ISBN:	9780123694621
ISBN:	0123694620
書目註:	Includes bibliographical references and index.
內容註:	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 --
摘要、提要註:	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.
電子資源:	An electronic book accessible through the World Wide Web; click for information

Genetic instabilities and neurological diseases[electronic resource] /
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:

427881
Nervous System Diseases
--genetics.Index Terms--Genre/Form:

336502
Electronic books.

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[electronic resource] /
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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 : $b Elsevier Academic Press, $c c2006.
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 --
505 0 $a 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 ... [et al.] 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 [et al.] -- Cancer and genetic instability. Microsatellite instability in cancer / Michael J. Siciliano.
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.
650 1 2 $a Nervous System Diseases $x genetics. $3 427881
650 2 2 $a Chromosome Aberrations. $3 427882
650 2 2 $a Genetic Diseases, Inborn. $3 427883
650 2 2 $a Trinucleotide Repeats $x genetics. $3 427884
650 0 $a Nervous system $x Diseases $x Genetic aspects. $3 427885
650 0 $a Neurogenetics. $3 427886
655 7 $a Electronic books. $2 local $3 336502
700 1 $a Wells, R. D. $q (Robert D.) $3 427879
700 1 $a Ashizawa, Tetsuo. $3 427880
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730 0 $a Genetic instabilities and hereditary neurological diseases. $3 427887
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