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Michael Zech

Showing results (151-160 of 196) with videos related to

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Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate SynthasePhilip Harrer, Magdalena Krygier, Martin Krenn, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omicsUgo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
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.
Movement Disorders : Official Journal of the Movement Disorder Society|September 4, 2025
A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's DiseaseMohammed Al-Azzani, Sandrina Weber, Nagendran Ramalingam, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
A novel alpha-synuclein K58N missense variant in a patient with Parkinson's diseaseMohammed Al-Azzani, Sandrina Weber, Nagendran Ramalingam, 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.
Pageof 20

Showing results (151-160 of 196) with videos related to

Sort By:
Pageof 20
Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate SynthasePhilip Harrer, Magdalena Krygier, Martin Krenn, et al.
Annals of Neurology|November 5, 2022
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal LesionsPhilip Harrer, Audrey Schalk, Masaru Shimura, et al.
European Journal of Human Genetics : EJHG|June 26, 2023
Episignature analysis of moderate effects and mosaicsKonrad Oexle, Michael Zech, Lara G Stühn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omicsUgo Sorrentino, Melanie Brugger, Alice Saparov, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.
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.
Movement Disorders : Official Journal of the Movement Disorder Society|September 4, 2025
A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's DiseaseMohammed Al-Azzani, Sandrina Weber, Nagendran Ramalingam, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
A novel alpha-synuclein K58N missense variant in a patient with Parkinson's diseaseMohammed Al-Azzani, Sandrina Weber, Nagendran Ramalingam, 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.
Pageof 20