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Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Link: Autor/in: Brüggemann, Norbert Hagenah, Johann Reetz, Kathrin Schmidt, Alexander Kasten, Meike Buchmann, Inga Eckerle, Susanne Bähre, Manfred Münchau, Alexander Djarmati, Ana van der Vegt, Joyce Zeige mehr (+4)… Zeige weniger… Erscheinungsjahr: 2010 Medientyp: Text Schlagworte: Humans Male Aged Female Middle Aged Prospective Studies Genetic Predisposition to Disease Magnetic Resonance Imaging Mutation Phenotype Brain pathology Pedigree Heterozygote Brain Mapping Color Perception physiology Discrimination (Psychology) physiology Nerve Degeneration genetics Olfactory Perception physiology Parkinsonian Disorders genetics Proton-Translocating ATPases genetics Humans Male Aged Female Middle Aged Prospective Studies Genetic Predisposition to Disease Magnetic Resonance Imaging Mutation Phenotype Brain pathology Pedigree Heterozygote Brain Mapping Color Perception physiology Discrimination (Psychology) physiology Nerve Degeneration genetics Olfactory Perception physiology Parkinsonian Disorders genetics Proton-Translocating ATPases genetics Beschreibung: To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers. To determine clinical features and to identify changes in brain structure and function in compound heterozygous and heterozygous ATP13A2 mutation carriers. Lizenz: info:eu-repo/semantics/restrictedAccess Quellsystem: Forschungsinformationssystem des UKE Interne Metadaten Quelldatensatz oai:pure.atira.dk:publications/20072c13-190d-48ab-b926-0a4364c7b287