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20080827133500.0 |
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060823s2006 ne eng d |
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|a 0123694620
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| 035 |
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|a (OCoLC)81861913
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| 040 |
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|a NhCcYBP
|c NhCcYBP
|d OrLoB-B
|d UtOrBLW
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| 050 |
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4 |
|a RC346.4
|b .G46 2006
|
| 245 |
0 |
0 |
|a Genetic instabilities and neurological diseases.
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| 250 |
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|a 2nd ed.
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| 260 |
|
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|a Amsterdam ;
|a Boston :
|b Elsevier/Academic Press,
|c c2006.
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| 300 |
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|a xv, 766 p. ;
|c 29 cm.
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| 336 |
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|a text
|b txt
|2 rdacontent
|0 http://id.loc.gov/vocabulary/contentTypes/txt
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| 337 |
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|a unmediated
|b n
|2 rdamedia
|0 http://id.loc.gov/vocabulary/mediaTypes/n
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| 338 |
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|a volume
|b nc
|2 rdacarrier
|0 http://id.loc.gov/vocabulary/carriers/nc
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| 505 |
0 |
0 |
|g Ch. 1.
|t Overview of the field /
|r Tetsuo Ashizawa and Robert D. Wells --
|g Ch. 2.
|t Myotonic dystrophies : an overview /
|r Tetsuo Ashizawa and Peter S. Harper --
|g Ch. 3.
|t The RNA-mediated disease process in myotonic dystrophy /
|r Charles A. Thornton, Maurice S. Swanson and Thomas A. Cooper --
|g Ch. 4.
|t cis effects of CTG expansion in myotonic dystrophy type 1 /
|r Sita Reddy and Sharan Paul --
|g Ch. 5.
|t Normal and pathophysiological significance of myotonic dystrophy protein kinase /
|r Derick G. Wansink, Rene E. M. A. van Herpen and Be Wieringa --
|g Ch. 6.
|t Biochemistry of myotonic dystrophy protein kinase /
|r Ram Singh and Henry F. Epstein --
|g Ch. 7.
|t Clinical and genetic features of myotonic dystrophy type 2 /
|r Jamie M. Margolis, Laura P. W. Ranum and John W. Day --
|g Ch. 8.
|t Myotonic dystrophy type 2 : clinical and genetic aspects /
|r Ralf Krahe, Linda L. Bachinski and Biarne Udd --
|g Ch. 9.
|t The subtelomeric D4Z4 repeat instability in facioscapulohumeral muscular dystrophy /
|r Silvere van der Maarel, Rune R. Frants and George W. Padberg --
|g Ch. 10.
|t Fragile X syndrome and fragile X-associated tremor/ataxia syndrome /
|r Randi J. Hagerman and Paul J. Hagerman --
|g Ch. 11.
|t Animal models of fragile X syndrome : mice and flies /
|r Ben A. Oostra and David L. Nelson --
|g Ch. 12.
|t Chromosomal fragile sites : mechanisms of cytogenetic expression and pathogenic consequences /
|r Robert I. Richards --
|g Ch. 13.
|t Clinical features and molecular biology of Kennedy's disease /
|r CheunJu Chen and Kenneth H. Fischbeck --
|g Ch. 14.
|t Molecular pathogenesis and therapeutic targets in Huntington's disease /
|r John S. Bett, Gillian P. Bates and Emma Hockly --
|g Ch. 15.
|t Molecular pathogenesis of Huntington's disease : the role of excitotoxicity /
|r Mahmoud A. Pouladi, Ilya Bezprozvanny, Lynn A. Raymond and Michael R. Hayden --
|g Ch. 16.
|t Huntington's disease-like 2 /
|r Russell L. Margolis, Susan E. Holmes, Dobrila D. Rudnicki, Elizabeth O'Hearn, Christopher A. Ross, Olga Pletnikova and Juan C. Troncoso --
|g Ch. 17.
|t Friedreich's ataxia /
|r Massimo Pandolfo --
|g Ch. 18.
|t Experimental therapeutics for Friedreich's ataxia /
|r Robert B. Wilson --
|g Ch. 19.
|t Evolution and instability of the GAA triplet-repeat sequence in Friedreich's ataxia /
|r Irene De Biase, Astrid Rasmussen and Sanjay I. Bidichandani --
|g Ch. 20.
|t Mouse models for Friedreich's ataxia /
|r Helene Puccio --
|g Ch. 21.
|t Triplexes, sticky DNA, and the (GAA TTC) trinucleotide repeat associated with Friedreich's ataxia /
|r Leslie S. Son and Robert D. Wells --
|g Ch. 22.
|t Phosphorylation of ataxin-1 : a link between basic research and clinical application in spinocerebellar ataxia type 1 /
|r Kerri M. Carlson and Harry T. Orr --
|g Ch. 23.
|t Spinocerebellar ataxia type 2 /
|r Stefan M. Pulst --
|g Ch. 24.
|t Machado-Joseph disease/spinocerebellar ataxia type 3 /
|r Henry Paulson --
|g Ch. 25.
|t Spinocerebellar ataxia type 6 /
|r Hidehiro Mizusawa and Kinya Ishikawa --
|g Ch. 26.
|t Pathogenesis of spinocerebellar ataxia type 7 : new insights from mouse models and ataxin-7 function /
|r Dominique Helminger and Didier Devys --
|g Ch. 27.
|t Spinocerebellar ataxia type 7 : clinical features to cellular pathogenesis /
|r Gwenn A. Garden, Ray Truant, Lisa M. Ellerby and Albert R. La Spada --
|g Ch. 28.
|t Molecular genetics of spinocerebellar ataxia type 8 /
|r Yoshio Ikeda, Katherine A. Dick, John W. Day and Laura P. W. Ranum --
|g Ch. 29.
|t Spinocerebellar ataxia type 10 : a disease caused by an expanded (ATTCT)[subscript n] pentanucleotide repeat /
|r Tetsuo Ashizawa --
|g Ch. 30.
|t DNA structures and genetic instabilities associated with spinocerebellar ataxia type 10 (ATTCT)[subscript n] (AGAAT)[subscript n] repeats suggest a DNA amplification model for repeat expansion /
|r Vladimir N. Potaman, Malgorzata J. Pytlos, Vera I. Hashem, John J. Bissler, Michael Leffak and Richard R. Sinden --
|g Ch. 31.
|t Spinocerebellar ataxia type 12 /
|r Susan E. Holmes, Elizabeth O'Hearn, Natividad Cortez-Apreza, H. S. Hwang, Christopher A. Ross, S. Strack and Russell L. Margolis --
|g Ch. 32.
|t Spinocerebellar ataxia 17 and Huntington's disease-like 4 /
|r Giovanni Stevanin and Alexis Brice --
|g Ch. 33.
|t Polyalanine and polyglutamine diseases : possible common mechanisms? /
|r Aida Abu-Baker and Guy A. Rouleau --
|g Ch. 34.
|t Chemical and physical properties of polyglutamine repeat sequences /
|r Ronald Wetzel --
|g Ch. 35.
|t Somatic mosaicism of expanded CAG CTG repeats in humans and mice : dynamics, mechanisms, and consequences /
|r Peggy F. Shelbourne and Darren G. Monckton --
|g Ch. 36.
|t Transgenic mouse models of unstable trinucleotide repeats : toward an understanding of disease-associated repeat size mutation /
|r Mario Gomes-Pereira, Laurent Foiry and Genevieve Gourdon --
|g Ch. 37.
|t Drosophila models of polyglutamine disorders /
|r George R. Jackson, Tzu-Kang Sang and J. Paul Taylor --
|g Ch. 38.
|t Involvement of genetic recombination in microsatellite instability /
|r Ruhee Dere, Michael L. Hebert and Marek Napierala --
|g Ch. 39.
|t Bending the rules : unusual nucleic acid structures and disease pathology in the repeat expansion diseases /
|r Karen Usdin --
|g Ch. 40.
|t Replication of expandable DNA repeats /
|r Sergei M. Mirkin --
|g Ch. 41.
|t Error-prone repair of slipped (CTG) (CAG) repeats and disease-associated expansions /
|r Gagan B. Panigrahi, Rachel Lau, S. Erin Montgomery, Michelle R. Leonard, Julien L. Marcadier, Mariana Kekis, Caroline Vosch, Andrea Todd and Christopher E. Pearson --
|g Ch. 42.
|t DNA repair models for understanding triplet repeat instability /
|r Yuan Liu, Rajendra Prasad and Samuel H. Wilson --
|g Ch. 43.
|t Models of repair underlying trinucleotide DNA expansion /
|r Irina V. Kovtun and Cynthia T. McMurray --
|g Ch. 44.
|t Transcription and triplet repeat instability /
|r Yunfu Lin, Vincent Dion and John H. Wilson --
|g Ch. 45.
|t Structural characteristics of trinucleotide repeats in transcripts /
|r Wlodzimierz J. Krzyzosiak, Krzysztof Sobczak and Marek Napierala --
|g Ch. 46.
|t Gross rearrangements caused by long triplet and other repeat sequences /
|r Albino Bacolla, Marzena Wojciechowska, Beata Kosmider, Jacquelynn E. Larson and Robert D. Wells --
|g Ch. 47.
|t Microsatellite instability in cancer /
|r Michael J. Siciliano.
|
| 650 |
1 |
2 |
|a Nervous System Diseases
|x genetics.
|
| 650 |
2 |
2 |
|a Chromosome Aberrations.
|
| 650 |
2 |
2 |
|a Genetic Diseases, Inborn.
|
| 650 |
2 |
2 |
|a Trinucleotide Repeats
|x genetics.
|
| 650 |
|
0 |
|a Nervous system
|x Diseases
|x Genetic aspects.
|0 http://id.loc.gov/authorities/subjects/sh2010103646
|
| 650 |
|
0 |
|a Neurogenetics.
|0 http://id.loc.gov/authorities/subjects/sh85091122
|
| 650 |
|
7 |
|a Human chromosome abnormalities.
|2 fast
|0 http://id.worldcat.org/fast/fst00962907
|
| 650 |
|
7 |
|a Nervous system
|x Diseases
|x Genetic aspects.
|2 fast
|0 http://id.worldcat.org/fast/fst01036107
|
| 650 |
|
7 |
|a Neurogenetics.
|2 fast
|0 http://id.worldcat.org/fast/fst01036353
|
| 700 |
1 |
|
|a Wells, R. D.
|q (Robert D.)
|0 http://id.loc.gov/authorities/names/n87944761
|1 http://viaf.org/viaf/39437385
|
| 700 |
1 |
|
|a Ashizawa, Tetsuo.
|0 http://id.loc.gov/authorities/names/nb2006019478
|1 http://viaf.org/viaf/61848306
|
| 730 |
0 |
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|a Genetic instabilities and hereditary neurological diseases.
|
| 901 |
|
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|a ToCBNA
|
| 903 |
|
|
|a HeVa
|
| 929 |
|
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|a cat
|
| 999 |
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f |
|i 7d1151ec-2158-5b5d-a72b-fbb4c10dc4a5
|s 7f0415ea-688f-5bfb-af3d-96c22564576a
|
| 928 |
|
|
|t Library of Congress classification
|a RC346.4 .G46 2006
|l JCL
|c JCL-Sci
|i 5118482
|
| 927 |
|
|
|t Library of Congress classification
|a RC346.4 .G46 2006
|l JCL
|c JCL-Sci
|e JEBL
|e CRERAR
|b 75404821
|i 8081039
|
