Neuroacanthocytosis Syndromes
Springer (Verlag)
978-90-481-6743-2 (ISBN)
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 LessonsCan 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.
Zusatzinfo | XVIII, 288 p. |
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Verlagsort | Dordrecht |
Sprache | englisch |
Maße | 160 x 240 mm |
Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete ► Neurologie |
Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
Naturwissenschaften ► Biologie ► Humanbiologie | |
Naturwissenschaften ► Biologie ► Zoologie | |
ISBN-10 | 90-481-6743-4 / 9048167434 |
ISBN-13 | 978-90-481-6743-2 / 9789048167432 |
Zustand | Neuware |
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