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Katja Lohmann

Showing results (111-120 of 267) with videos related to

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The Lancet. Neurology|April 19, 2008
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patientPhilip Seibler, Ana Djarmati, Brigitte Langpap, et al.
NPJ Parkinson'S Disease|October 31, 2023
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s diseaseSokhna Haissatou Diaw, Max Borsche, Linn Streubel-Gallasch, et al.
Parkinsonism & Related Disorders|July 19, 2017
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriersAnne Weissbach, Inke R König, Katja Hückelheim, et al.
Parkinsonism & Related Disorders|January 8, 2016
RAB39B mutations are a rare finding in Parkinson disease patientsTobias Löchte, Norbert Brüggemann, Eva-Juliane Vollstedt, et al.
Parkinsonism & Related Disorders|January 24, 2009
Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriersNorbert Brüggemann, Manfred Mitterer, Andrea J Lanthaler, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 15, 2014
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patientValerija Dobričić, Nikola Kresojević, Ana Westenberger, et al.
International Journal of Molecular Sciences|February 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related DisorderMartje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, et al.
Annals of Neurology|October 27, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)Frank J Kaiser, Alma Osmanoric, Aleksandar Rakovic, et al.
Neurobiology of Aging|July 23, 2008
LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlationConnie Marras, Christine Klein, Anthony E Lang, et al.
Neurogenetics|March 18, 2024
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discoverySokhna Haissatou Diaw, Sylvie Delcambre, Christoph Much, et al.
Pageof 27

Showing results (111-120 of 267) with videos related to

Sort By:
Pageof 27
The Lancet. Neurology|April 19, 2008
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patientPhilip Seibler, Ana Djarmati, Brigitte Langpap, et al.
NPJ Parkinson'S Disease|October 31, 2023
Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s diseaseSokhna Haissatou Diaw, Max Borsche, Linn Streubel-Gallasch, et al.
Parkinsonism & Related Disorders|July 19, 2017
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriersAnne Weissbach, Inke R König, Katja Hückelheim, et al.
Parkinsonism & Related Disorders|January 8, 2016
RAB39B mutations are a rare finding in Parkinson disease patientsTobias Löchte, Norbert Brüggemann, Eva-Juliane Vollstedt, et al.
Parkinsonism & Related Disorders|January 24, 2009
Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriersNorbert Brüggemann, Manfred Mitterer, Andrea J Lanthaler, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 15, 2014
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a Serbian patientValerija Dobričić, Nikola Kresojević, Ana Westenberger, et al.
International Journal of Molecular Sciences|February 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related DisorderMartje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, et al.
Annals of Neurology|October 27, 2010
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)Frank J Kaiser, Alma Osmanoric, Aleksandar Rakovic, et al.
Neurobiology of Aging|July 23, 2008
LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlationConnie Marras, Christine Klein, Anthony E Lang, et al.
Neurogenetics|March 18, 2024
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discoverySokhna Haissatou Diaw, Sylvie Delcambre, Christoph Much, et al.
Pageof 27