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  • Conference proceedings
  • © 2005

Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

Part of the book series: Research and Perspectives in Alzheimer's Disease (ALZHEIMER)

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Table of contents (12 papers)

  1. Front Matter

    Pages I-XIII
  2. Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred

    • Alison M. Goate, Pau Pastor, Catherine M. Roe, Joanne Norton, Sumi Chakraverty, Francisco Lopera et al.
    Pages 61-71
  3. Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis

    • Helena Karlstrom, William S Brooks, John B J Kwok, Jillian J Kril, Glenda M Halliday, Peter R Schofield
    Pages 73-92
  4. Frontotemporal Dementias: Genotypes and Phenotypes

    • Virginia M.-Y. Lee
    Pages 103-115
  5. Chromosome 17-linked Frontotemporal dementia with Ubiquitin-Positive, Tau-Negative Inclusions

    • Rosa Rademakers, Julie van der Zee, Samir Kumar-Singh, Bart Dermaut, Marc Cruts, Christine Van Broeckhoven
    Pages 117-137
  6. Variations of the Phenotype in Frontotemporal Dementias

    • Norman L. Foster, R. E. Koeppe, B. J. Giordani, T. E. Nichols, A. P. Lieberman
    Pages 139-152
  7. Phenotype/genotype correlations in Parkinson's disease

    • Alexis Brice, Ebba Lohmann, Pablo Ibanez, Magali Periquet, Sophie Laine, Béatrice Debarges et al.
    Pages 153-164
  8. Back Matter

    Pages 165-166

About this book

Recent advances in understanding the role of protein dysmetabolism in neurodegeneration was the theme of the Fondation IPSEN meeting addressing Genotype-Proteotype-Phenotype relationships. Experts from international laboratories contributed to the  current volume to produce a comprehensive overview of the role of protein misfolding in neurodegeneration. Links between genotype and protein characteristics and between proteotype and clinical phenomenology were discussed across diseases categories. Progress in understanding the role of abnormalities of protein metabolism may lead to the identification of biological markers relevant to disease monitoring and to the development of new therapeutic agents capable of modifying and ameliorating basic neurodegenerative mechanisms.

Editors and Affiliations

  • Reed Neurological Research Center, UCLA, Los Angeles, USA

    Jeffrey L. Cummings

  • Neurologie, CHU La Timone, Bd. Jean Moulin, Marseille Cedex 05, France

    Michel Poncet

  • Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA

    John Hardy

  • Pour la Recherche Thérapeutique, Fondation IPSEN, Paris Cedex 16, France

    Yves Christen

Bibliographic Information

  • Book Title: Genotype - Proteotype - Phenotype Relationships in Neurodegenerative Diseases

  • Editors: Jeffrey L. Cummings, Michel Poncet, John Hardy, Yves Christen

  • Series Title: Research and Perspectives in Alzheimer's Disease

  • DOI: https://doi.org/10.1007/b137738

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2005

  • Hardcover ISBN: 978-3-540-24835-4Published: 01 April 2005

  • Softcover ISBN: 978-3-642-06395-4Published: 19 October 2010

  • eBook ISBN: 978-3-540-26522-1Published: 11 October 2005

  • Series ISSN: 0945-6066

  • Series E-ISSN: 2196-310X

  • Edition Number: 1

  • Number of Pages: XIII, 166

  • Topics: Neurosciences, Neurology

Buy it now

Buying options

eBook USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access