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The Resource Genotype - proteotype - phenotype relationships in neurodegenerative diseases, edited by J. Cummings ... [et al.], (electronic book)

Genotype - proteotype - phenotype relationships in neurodegenerative diseases, edited by J. Cummings ... [et al.], (electronic book)

Label
Genotype - proteotype - phenotype relationships in neurodegenerative diseases
Title
Genotype - proteotype - phenotype relationships in neurodegenerative diseases
Statement of responsibility
edited by J. Cummings ... [et al.]
Contributor
Subject
Genre
Language
eng
Summary
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 identificat
Member of
Cataloging source
GW5XE
Characteristic
online system or service
http://library.link/vocab/relatedWorkOrContributorDate
1948-
http://library.link/vocab/relatedWorkOrContributorName
Cummings, Jeffrey L.
http://library.link/vocab/subjectName
  • Nervous system
  • Nervous system
  • Protein Folding
  • Neurodegenerative Diseases
  • Neurodegenerative Diseases
Label
Genotype - proteotype - phenotype relationships in neurodegenerative diseases, edited by J. Cummings ... [et al.], (electronic book)
Instantiates
Publication
Note
"Fondation IPSEN pour la recherche thérapeutique"--Cover
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Neurodegenerative Disorders as Proteinopathies: Phenotypic Relationships -- Towards a Molecular Classification of Neurodegenerative Disease -- Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases -- Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases -- Early Onset Familial Alzheimer's Disease: Is a Mutation Predictive of Pathology? -- Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred -- Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis -- Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenotype -- Frontotemporal Dementias: Genotypes and Phenotypes -- Chromosome 17-linked Frontotemporal dementia with Ubiquitin-Positive, Tau-Negative Inclusions -- Variations of the Phenotype in Frontotemporal Dementias -- Phenotype/genotype correlations in Parkinson's disease
Extent
xiii, 166 p.
Form of item
online
Isbn
9783540265221
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other physical details
ill.
Specific material designation
remote
Label
Genotype - proteotype - phenotype relationships in neurodegenerative diseases, edited by J. Cummings ... [et al.], (electronic book)
Publication
Note
"Fondation IPSEN pour la recherche thérapeutique"--Cover
Bibliography note
Includes bibliographical references and index
Carrier category
online resource
Carrier category code
  • cr
Carrier MARC source
rdacarrier
Content category
text
Content type code
  • txt
Content type MARC source
rdacontent
Contents
Neurodegenerative Disorders as Proteinopathies: Phenotypic Relationships -- Towards a Molecular Classification of Neurodegenerative Disease -- Racial and Ethnic Influences on the Expression of the Genotype in Neurodegenerative Diseases -- Causes and Consequences of Oxidative Stress in Neurodegenerative Diseases -- Early Onset Familial Alzheimer's Disease: Is a Mutation Predictive of Pathology? -- Identification of Genes that Modify the Age of Onset in a Large Familial Alzheimer's Disease Kindred -- Variable Phenotype of Alzheimer's Disease with Spastic Paraparesis -- Presenilin Mutations: Variations in the Behavioral Phenotype with an Emphasis on the Frontotemporal Dementia Phenotype -- Frontotemporal Dementias: Genotypes and Phenotypes -- Chromosome 17-linked Frontotemporal dementia with Ubiquitin-Positive, Tau-Negative Inclusions -- Variations of the Phenotype in Frontotemporal Dementias -- Phenotype/genotype correlations in Parkinson's disease
Extent
xiii, 166 p.
Form of item
online
Isbn
9783540265221
Media category
computer
Media MARC source
rdamedia
Media type code
  • c
Other physical details
ill.
Specific material designation
remote

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