語系:
繁體中文
English
說明(常見問題)
回圖書館
登入
回首頁
切換:
標籤
|
MARC模式
|
ISBD
Genetic instabilities and neurologic...
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
LDR
:05845cmm 2200373Ia 4500
001
165232
003
OCoLC
005
20110614113909.0
006
m d
007
cr cn|||||||||
008
160223s2006 enka ob 001 0 eng d
020
$a
9780123694621
020
$a
0123694620
029
1
$a
NZ1
$b
12434938
035
$a
(OCoLC)162573214
035
$a
ocn162573214
037
$a
111873:111960
$b
Elsevier Science & Technology
$n
http://www.sciencedirect.com
040
$a
OPELS
$c
OPELS
$d
OPELS
049
$a
TEFA
050
1 4
$a
RC346.4
$b
.G46 2006
060
1 4
$a
2006 K-236
060
1 4
$a
WL 140
$b
G328 2006
082
0 4
$a
616.80442
$2
22
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.
650
a
$3
72593
655
a
$3
239592
700
a
$q
(Greta Eva Nina)
$e
作.
$3
98101
710
a
$3
251528
730
a
$3
239589
筆 0 讀者評論
評論
新增評論
分享你的心得
Export
取書館別
處理中
...
變更密碼
登入