Neuroacanthocytosis Syndromes
| Autor Corporativo: | |
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| Otros Autores: | |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Dordrecht :
Springer Netherlands : Imprint: Springer,
2005.
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| Edición: | 1st ed. 2005. |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1007/1-4020-2898-9 |
Tabla de Contenidos:
- Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons?
- Clinical Context
- The Differential Diagnosis of Neuroacanthocytosis: An Overview
- Acanthocytes and Disorders of Lipoprotein Metabolism
- Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Review
- Chorea-Acanthocytosis with the Ehime-Deletion Mutation
- McLeod Syndrome: A Clinical Review
- Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathology
- Acanthocytes in Pantothenate Kinase Associated Neurodegeneration
- Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphology
- Differential Diagnosis of Serum Creatine Kinase Elevation
- Organ Involvement
- Pathology of Neuroacanthocytosis and of Huntington’s Disease
- Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosis
- Epilepsy in Neuroacanthocytosis
- Sleep Features in Chorea-Acanthocytosis
- Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosis
- Cardiac Involvement in the Neuroacanthocytosis Syndromes
- Basic Science
- Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis?
- Erythrocyte Membrane Anion Exchange Abnormalities in Chorea-Acanthocytosis: the Band 3 Network
- The Spectrum of Mutations and Possible Function of the CHAC Gene
- Immunohematology of the Kell and KX Blood Group Systems
- C. Elegans as a Disease Model for Neuroacanthocytosis
- The Kell Blood Group Protein, its Relation to XK and its Function as an Endothelin-3-Converting Enzyme
- Endothelins as Basal Ganglia Transmitters
- Substrates for Transglutaminase-Catalyzed Cross-Linking: Relevance to Pathogenesis of Huntington’s Disease and Chorea-Acanthocytosis
- Huntington’s Disease Animal Models: What Lessons Can Be Learned for Research on Neuroacanthocytosis Syndromes?
- Motor Deficits as Biomarkers in Huntington’s Disease: Perspectives for Neuroacanthocytosis Syndromes
- Treatment
- Treatment Options in Huntington’s Disease
- Is Surgical Treatment an Option for Chorea-Acanthocytosis?
- The Potential for Gene Therapy of Neurodegenerative Disorders
- Summary
- Research Agenda in Neuroacanthocytosis.