Jung
Fakultäten » Medizinische Fakultät » Neurologie, Klinik für » PD Dr. Hans H. Jung » Jung
Completed research project
| Title / Titel | Molecular genetic analysis of hereditary neurodegenerative and sleep-associated disorders | ||
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| Abstract (PDF, 14 KB) | |||
| Original title / Originaltitel | Molekulargenetische Untersuchungen bei familiären neurodegenerativen und schlafassoziierten Erkrankungen | ||
| Summary / Zusammenfassung | Characterization of the molecular genetic basis of hereditary sleep-associated disorders and neurodegenerative disorders manifesting as chorea-syndromes, parkinsonism-dystonia syndrome, ataxia syndromes and mitochondrial cytopathies. The aim of the study is to achieve a more accurate phenotype-genotype-correlation in the selected disorders and the search of novel candidate genes. In the future, the data might help to define susceptibility genes in sporadic neurodegenerative and sleep-associated disorders and might add to the examination of molecular disease mechanisms. | ||
| Publications / Publikationen | Hewer E, Danek A, Schoser BG, Miranda M, Reichard R, Castiglioni C, Oechsner M, Goebel HH, Heppner FL, Jung HH (2007). McLeod myopathy revisited – more neurogenic and less benign. Brain 130: 3285-3296Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A (2007) Neurologic phenotypes associated with acanthocytosis. Neurology; 68:92-98.Dydak U, Mueller S, Sandor PS, Meier D, Boesiger P, Jung HH (2006) Cerebral metabolic alterations in McLeod syndrome. Eur Neurol; 56:17-23.Schiller A, Wevers RA, Steenbergen GCH, Blau N, Jung HH (2004) Long-term course of L-Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology; 63:1524–1526Bartholdi D, Zumsteg D, Verrips A, Wevers RA, Sistermans E, Hess K, Jung HH (2004) Spinal phenotype of cerebrotendinous xanthomatosis: A pitfall in the diagnosis of multiple sclerosis. J Neurol; 251: 105-107.Jung HH, Hergersberg M, Vogt M, Pahnke J, Treyer V, Röthlisberger B, Kollias SS, Russo D, Frey BM (2003) McLeod phenotype associated with a XK missense mutation without hematological, neuromuscular, or cerebral involvement. Transfusion; 43: 928-938.Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, Daniels G, Kollias S, Hess K (2001) McLeod Syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49: 384-392. | ||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
No project-specific funding |
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| Duration of Project / Projektdauer | Jul 2005 to Jul 2010 |