عنوان

Genetic instabilities and neurological diseases

شابک

9780123694621

کد کشور

IR

شماره

EB13583

زبان متن نوشتاري يا گفتاري و مانند آن

انگلیسی

کشور محل نشر

IR

عنوان اصلي

Genetic instabilities and neurological diseases

نام عام مواد

[Electronic Resource]

نام نخستين پديدآور

/ editors, Robert D. Wells, Tetsuo Ashizawa

وضعيت ويراست

2nd

محل نشرو پخش و غیره

Amsterdam ; Boston

نام ناشر، پخش کننده و غيره

: Elsevier Academic Press,

تاریخ نشرو بخش و غیره

, c2.

نام خاص و کميت اثر

xv, 766 p. , ill. , 29 cm. +, 1 CD-

متن يادداشت

Rev. ed. of: Genetic instabilities and hereditary neurological diseases / editors, Robert D. Wells, Stephen T. Warren ; associate editor, Marion Sarmiento. c1

متن يادداشت

e

متن يادداشت

Includes bibliographical references and in

متن يادداشت

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)س‍(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. Sicili

متن يادداشت

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)nس‍(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 Bric

متن يادداشت

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 / Haelaene Puccio. Triplexes, sticky DNA, and the (GAA-TTC) trinucleotide repeat associated with Friedreich's ataxia / Leslie S. Son and Robert D. Well

متن يادداشت

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, Renae E.M.A. van Herpen, and Bae 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 / Silvaere 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. Richard

عنوان گونه گون

Genetic instabilities and hereditary neurological disea

عنوان گونه گون

Genetic instabilities & neurological dise

موضوع مستند نشده

Nervous System Diseases, gene

موضوع مستند نشده

Chromosome Aberrat

موضوع مستند نشده

Trinucleotide Repeats, gene

موضوع مستند نشده

Genetic Diseases, In

شماره

شماره رده

نشانه اثر

مستند نام اشخاص تاييد نشده

Wells, R. D.(Robert

مستند نام اشخاص تاييد نشده

Ashizawa, Tet

کشور

ایران

نام ميزبان

0123694620.pdf

شماره دسترسي

محرمانه

اطلاعات مختصر

محرمانه

تاريخ و ساعت مذاکره و دسترسي

0123694620.pdf

بيت در ثانيه

0

نوع فرمت الکترونيکي

متن

وضعیت فهرست نویسی

old catalog

فرمت انتشار

e

نوع ماده

BL

پیشوند ISBD اعمال شده است

1

سطح دسترسي

a

تكميل شده

Y