Genetic Instabilities and Neurological Diseases

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Robert D. Wells, Tetsuo Ashizawa
Elsevier, 13 oct. 2011 - 784 páginas
Genetic Instabilities and Neurological Diseases covers 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 updates of these repeat expansion mutations, including the addition of many new chapters, and old chapters rewritten as extensions of the previous edition. This book is an invaluable reference source for neuroscientists, geneticists, neurologists, molecular biologists, genetic counsellors and students.
  • 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
 

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Índice

PART II Myotonic Dystrophy
19
PART III Fragile X Syndrome
163
PART IV Kennedys Disease
209
PART V Huntingtons Disease
221
PART VI Friedreichs Ataxia
275
PART VII Spinocerebellar Ataxias
337
PART VIII Other Polyamino Acid Repeats
485
PART IX Biophysics of PolyQ
515
PART X In Vivo Instability Studies
535
PART XI Insect Models
585
PART XII Instability Mechanisms in Vivo and in Vitro
595
PART XIII Mutations in Flanking Sequences
715
PART XIV Cancer and Genetic Instability
735
Index
749
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Página 14 - Leach, FS, Nicolaides, NC, Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomaki, P., Sistonen, P., Aaltonen, LA, Nystrom-Lahti, M., Guan, XY, Zhang, J., Meltzer, PS, Yu, JW, Kao, FT, Chen, DJ, Cerosaletti, KM, Fournier, REK, Todd, S., Lewis, T., Leach, RJ, Naylor, SL, Weissenbach, J., Mecklin, JP, Jarvinen, H., Petersen, GM, Hamilton, SR, Green, J., Jass, J., Watson, P., Lynch, HT, Trent, JM, de la Chapelle, A., Kinzler, KW, and Vogelstein, B. (1993) Mutations of a mutS homolog in hereditary...
Página 31 - In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 6th ed.
Página xiii - Branch National Institute of Diabetes and Digestive and Kidney Diseases National Institutes of Health Bethesda, Maryland KENNETH V.

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