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P P Pramstaller

Showing results (31-40 of 49) with videos related to

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Neurology|November 29, 2008
Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotypeB F L van Nuenen, M M Weiss, B R Bloem, et al.
Neurology|November 23, 2007
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?K Lohmann-Hedrich, A Neumann, A Kleensang, et al.
Annals of Neurology|March 15, 2000
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsyE Di Maria, M Tabaton, T Vigo, et al.
Human Molecular Genetics|August 7, 2001
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonismK Hedrich, M Kann, A J Lanthaler, et al.
Annals of Neurology|July 14, 2000
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotypeC Klein, P P Pramstaller, B Kis, et al.
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.
Neurology|February 12, 2004
Mutations in DYT1: extension of the phenotypic and mutational spectrumK Kabakci, K Hedrich, J C Leung, et al.
Journal of Internal Medicine|January 16, 2021
Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individualsF Fazzini, C Lamina, A Raftopoulou, 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.
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 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
Neurology|November 29, 2008
Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotypeB F L van Nuenen, M M Weiss, B R Bloem, et al.
Neurology|November 23, 2007
Evidence for linkage of restless legs syndrome to chromosome 9p: are there two distinct loci?K Lohmann-Hedrich, A Neumann, A Kleensang, et al.
Annals of Neurology|March 15, 2000
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsyE Di Maria, M Tabaton, T Vigo, et al.
Human Molecular Genetics|August 7, 2001
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonismK Hedrich, M Kann, A J Lanthaler, et al.
Annals of Neurology|July 14, 2000
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotypeC Klein, P P Pramstaller, B Kis, et al.
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.
Neurology|February 12, 2004
Mutations in DYT1: extension of the phenotypic and mutational spectrumK Kabakci, K Hedrich, J C Leung, et al.
Journal of Internal Medicine|January 16, 2021
Association of mitochondrial DNA copy number with metabolic syndrome and type 2 diabetes in 14 176 individualsF Fazzini, C Lamina, A Raftopoulou, 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.
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 5