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Genetic Testing|January 11, 2000
Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspectsC Klein, J Friedman, S Bressman, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
Genetic heterogeneity in ten families with myoclonus-dystoniaB Schüle, N Kock, M Svetel, et al.Neurobiology of Disease|January 8, 2010
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystoniaM Walter, M Bonin, R Saunders Pullman, et al.Neurology|June 25, 2003
Hereditary myoclonus-dystonia associated with epilepsyE M J Foncke, C Klein, J H T M Koelman, et al.Neurology|February 12, 2004
Mutations in DYT1: extension of the phenotypic and mutational spectrumK Kabakci, K Hedrich, J C Leung, et al.Neurology|February 12, 2004
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson diseaseK Hedrich, A Djarmati, N Schäfer, et al.Neurology|February 21, 2012
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian MennonitesR Saunders-Pullman, D Raymond, A J Stoessl, et al.Nature Genetics|September 1, 1997
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinL J Ozelius, J W Hewett, C E Page, et al.Genome Research|May 1, 1997
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibriumL J Ozelius, J Hewett, P Kramer, et al.Neurogenetics|August 29, 2001
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonismJ C Leung, C Klein, J Friedman, et al.Pageof 7