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Michael Zech

Showing results (121-130 of 195) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|May 17, 2021
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized DystoniaMiriama Ostrozovicova, Robert Jech, Dora Steel, et al.
Parkinsonism & Related Disorders|February 5, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystoniaFloriane Quazza, Florence Riant, Martina Patera, et al.
Scientific Reports|February 19, 2022
Central Mongolian lake sediments reveal new insights on climate change and equestrian empires in the Eastern SteppesJulian Struck, Marcel Bliedtner, Paul Strobel, et al.
European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Parkinsonism & Related Disorders|August 16, 2021
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case seriesIvana Dzinovic, Matej Škorvánek, Ján Necpál, et al.
American Journal of Human Genetics|May 26, 2015
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystoniaMichael Zech, Daniel D Lam, Ludmila Francescatto, et al.
American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.
Cell Reports|October 26, 2018
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate GenesGiulia Barbagiovanni, Pierre-Luc Germain, Michael Zech, et al.
Neurogenetics|August 30, 2017
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencingMichael Zech, Robert Jech, Matias Wagner, et al.
European Journal of Neurology|March 10, 2025
Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in DystoniaAhmet Kaymak, Luigi M Romito, Fabiana Colucci, et al.
Pageof 20

Showing results (121-130 of 195) with videos related to

Sort By:
Pageof 20
Movement Disorders : Official Journal of the Movement Disorder Society|May 17, 2021
A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized DystoniaMiriama Ostrozovicova, Robert Jech, Dora Steel, et al.
Parkinsonism & Related Disorders|February 5, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystoniaFloriane Quazza, Florence Riant, Martina Patera, et al.
Scientific Reports|February 19, 2022
Central Mongolian lake sediments reveal new insights on climate change and equestrian empires in the Eastern SteppesJulian Struck, Marcel Bliedtner, Paul Strobel, et al.
European Journal of Human Genetics : EJHG|March 19, 2022
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomaliesMiriam S Reuter, Michael Zech, Maja Hempel, et al.
Parkinsonism & Related Disorders|August 16, 2021
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case seriesIvana Dzinovic, Matej Škorvánek, Ján Necpál, et al.
American Journal of Human Genetics|May 26, 2015
Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystoniaMichael Zech, Daniel D Lam, Ludmila Francescatto, et al.
American Journal of Human Genetics|November 15, 2016
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized DystoniaMichael Zech, Sylvia Boesch, Esther M Maier, et al.
Cell Reports|October 26, 2018
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate GenesGiulia Barbagiovanni, Pierre-Luc Germain, Michael Zech, et al.
Neurogenetics|August 30, 2017
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencingMichael Zech, Robert Jech, Matias Wagner, et al.
European Journal of Neurology|March 10, 2025
Genetic Etiology Influences the Low-Frequency Components of Globus Pallidus Internus Electrophysiology in DystoniaAhmet Kaymak, Luigi M Romito, Fabiana Colucci, et al.
Pageof 20