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Katja Lohmann

Showing results (51-60 of 267) with videos related to

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Annals of Clinical and Translational Neurology|June 19, 2019
Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?Alexander Balck, Max Borsche, Meike Kasten, et al.
Journal of the Neurological Sciences|December 4, 2018
A recurrent de-novo ANO3 mutation causes early-onset generalized dystoniaSinem Tunc, Jonas Denecke, Luisa Olschewski, et al.
Neuropediatrics|February 23, 2018
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized DystoniaMarina Flotats-Bastardas, Eva Hebert, Miquel Raspall-Chaure, et al.
Movement Disorders Clinical Practice|August 18, 2021
Compound Heterozygous <i>DARS2</i> Mutations as a Mimic of Hereditary Spastic ParaplegiaMartje G Pauly, Yorck Hellenbroich, Kathrin Grundmann-Hauser, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 19, 2017
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystoniaLara M Lange, Sinem Tunc, Stephanie Tennstedt, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 21, 2024
Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in DystoniaElisabetta Indelicato, Anna Eberl, Sylvia Boesch, et al.
Human Molecular Genetics|May 10, 2017
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expressionRonja Hollstein, Benedikt Reiz, Lucas Kötter, et al.
Plos One|March 17, 2011
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblastsAleksandar Rakovic, Anne Grünewald, Jan Kottwitz, et al.
Parkinsonism & Related Disorders|January 10, 2012
The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystoniaAlexander Schmidt, Eckart Altenmüller, Hans-Christian Jabusch, et al.
Parkinsonism & Related Disorders|June 3, 2019
Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?Marija Dulovic-Mahlow, Agata Gajos, Hauke Baumann, et al.
Pageof 27

Showing results (51-60 of 267) with videos related to

Sort By:
Pageof 27
Annals of Clinical and Translational Neurology|June 19, 2019
Discordance in monozygotic Parkinson's disease twins - continuum or dichotomy?Alexander Balck, Max Borsche, Meike Kasten, et al.
Journal of the Neurological Sciences|December 4, 2018
A recurrent de-novo ANO3 mutation causes early-onset generalized dystoniaSinem Tunc, Jonas Denecke, Luisa Olschewski, et al.
Neuropediatrics|February 23, 2018
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized DystoniaMarina Flotats-Bastardas, Eva Hebert, Miquel Raspall-Chaure, et al.
Movement Disorders Clinical Practice|August 18, 2021
Compound Heterozygous <i>DARS2</i> Mutations as a Mimic of Hereditary Spastic ParaplegiaMartje G Pauly, Yorck Hellenbroich, Kathrin Grundmann-Hauser, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 19, 2017
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystoniaLara M Lange, Sinem Tunc, Stephanie Tennstedt, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 21, 2024
Genome Aggregation Database Version 4-Allele Frequency Changes and Impact on Variant Interpretation in DystoniaElisabetta Indelicato, Anna Eberl, Sylvia Boesch, et al.
Human Molecular Genetics|May 10, 2017
Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expressionRonja Hollstein, Benedikt Reiz, Lucas Kötter, et al.
Plos One|March 17, 2011
Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblastsAleksandar Rakovic, Anne Grünewald, Jan Kottwitz, et al.
Parkinsonism & Related Disorders|January 10, 2012
The GAG deletion in Tor1A (DYT1) is a rare cause of complex musician's dystoniaAlexander Schmidt, Eckart Altenmüller, Hans-Christian Jabusch, et al.
Parkinsonism & Related Disorders|June 3, 2019
Highly reduced penetrance in a family with a THAP1 nonsense mutation: Role of THAP1 expression?Marija Dulovic-Mahlow, Agata Gajos, Hauke Baumann, et al.
Pageof 27