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Robert Jech

Showing results (191-200 of 216) with videos related to

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Parkinsonism & Related Disorders|December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxiaMatej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
Brain : a Journal of Neurology|September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onsetNazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
European Journal of Neurology|January 16, 2026
Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic ReviewElisabetta Indelicato, Beatriz Carmona-Hidalgo, Javier Quintero, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation DysfunctionPhilip Harrer, Matej Škorvánek, Volker Kittke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizuresElena Poggio, Lucia Barazzuol, Andrea Salmaso, et al.
Research Square|June 10, 2024
p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central EuropeMiriam Ostrozovicova, Gertrud Tamas, Petr Dušek, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in DystoniaUgo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated NeurodegenerationThomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, et al.
Movement Disorders Clinical Practice|March 22, 2025
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's DiseaseMiriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel, et al.
Parkinsonism & Related Disorders|February 21, 2021
Clinically relevant copy-number variants in exome sequencing data of patients with dystoniaMichael Zech, Sylvia Boesch, Matej Škorvánek, et al.
Pageof 22

Showing results (191-200 of 216) with videos related to

Sort By:
Pageof 22
Parkinsonism & Related Disorders|December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxiaMatej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
Brain : a Journal of Neurology|September 30, 2021
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onsetNazanin Mirza-Schreiber, Michael Zech, Rory Wilson, et al.
European Journal of Neurology|January 16, 2026
Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic ReviewElisabetta Indelicato, Beatriz Carmona-Hidalgo, Javier Quintero, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 24, 2023
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation DysfunctionPhilip Harrer, Matej Škorvánek, Volker Kittke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizuresElena Poggio, Lucia Barazzuol, Andrea Salmaso, et al.
Research Square|June 10, 2024
p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central EuropeMiriam Ostrozovicova, Gertrud Tamas, Petr Dušek, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in DystoniaUgo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 17, 2020
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated NeurodegenerationThomas Klopstock, Aleksandar Videnovic, Almut Turid Bischoff, et al.
Movement Disorders Clinical Practice|March 22, 2025
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's DiseaseMiriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel, et al.
Parkinsonism & Related Disorders|February 21, 2021
Clinically relevant copy-number variants in exome sequencing data of patients with dystoniaMichael Zech, Sylvia Boesch, Matej Škorvánek, et al.
Pageof 22