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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|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.
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.
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.
Archives of Neurology|October 15, 2008
Myoclonus-dystonia due to maternal uniparental disomyEmilie Guettard, Marie-France Portnoi, Katja Lohmann-Hedrich, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 6, 2021
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical ModelHauke Baumann, Fabian Ott, Joachim Weber, et al.
Movement Disorders Clinical Practice|March 15, 2024
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar AtaxiaAndona Milovanović, Nataša Dragaševic-Mišković, Mirja Thomsen, et al.
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