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Showing results (271-280 of 284) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|April 20, 2016
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiencySimone Olgiati, Matej Skorvanek, Marialuisa Quadri, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 5, 2021
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation StudyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Annals of Neurology|June 20, 2025
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter StudyTatiana Svorenova, Luigi M Romito, Ahmet Kaymak, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 29

Showing results (271-280 of 284) with videos related to

Sort By:
Pageof 29
Movement Disorders : Official Journal of the Movement Disorder Society|April 20, 2016
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiencySimone Olgiati, Matej Skorvanek, Marialuisa Quadri, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Ebiomedicine|June 29, 2026
Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental featuresElisa Peirano, Laura O'Regan, Philip Harrer, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 5, 2021
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation StudyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Annals of Neurology|June 20, 2025
Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter StudyTatiana Svorenova, Luigi M Romito, Ahmet Kaymak, et al.
American Journal of Human Genetics|April 19, 2023
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomaliesKelly Smallwood, Kristin E N Watt, Satoru Ide, et al.
Annals of Neurology|August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal AbnormalitiesDora Steel, Michael Zech, Chen Zhao, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 17, 2024
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association StudiesBjörn-Hergen Laabs, Katja Lohmann, Eva-Juliane Vollstedt, et al.
Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Pageof 29