Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Michael Zech

Showing results (111-120 of 195) with videos related to

Pageof 20
Sort By:
American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Annals of Clinical and Translational Neurology|March 6, 2021
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndromeIvana Dzinovic, Matej Škorvánek, Petra Pavelekova, et al.
Frontiers in Neurology|April 15, 2026
Beyond <i>SGCE</i>: expanding the clinical and molecular spectrum of <i>KCTD17</i>- and <i>KCNN2</i>-related myoclonus-dystoniaMagdalena Krygier, Emilia J Sitek, Magdalena Chylińska, et al.
Parkinsonism & Related Disorders|August 2, 2016
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controlsMichael Zech, Angela Jochim, Sylvia Boesch, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structureAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Biological Chemistry|July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulationAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
Annals of Clinical and Translational Neurology|August 20, 2021
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8Diane Doummar, Marco Treven, Leila Qebibo, et al.
Parkinsonism & Related Disorders|February 11, 2025
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disordersAntonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Parkinsonism & Related Disorders|March 22, 2025
Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319]Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2014
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia familyMichael Zech, Florian Castrop, Barbara Schormair, et al.
Pageof 20

Showing results (111-120 of 195) with videos related to

Sort By:
Pageof 20
American Journal of Medical Genetics. Part A|October 4, 2025
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental DisordersTheresa Brunet, Michael Zech, Ulrich A Schatz, et al.
Annals of Clinical and Translational Neurology|March 6, 2021
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndromeIvana Dzinovic, Matej Škorvánek, Petra Pavelekova, et al.
Frontiers in Neurology|April 15, 2026
Beyond <i>SGCE</i>: expanding the clinical and molecular spectrum of <i>KCTD17</i>- and <i>KCNN2</i>-related myoclonus-dystoniaMagdalena Krygier, Emilia J Sitek, Magdalena Chylińska, et al.
Parkinsonism & Related Disorders|August 2, 2016
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controlsMichael Zech, Angela Jochim, Sylvia Boesch, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structureAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
The Journal of Biological Chemistry|July 6, 2023
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulationAudrey G O'Neill, Anika L Burrell, Michael Zech, et al.
Annals of Clinical and Translational Neurology|August 20, 2021
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8Diane Doummar, Marco Treven, Leila Qebibo, et al.
Parkinsonism & Related Disorders|February 11, 2025
Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disordersAntonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Parkinsonism & Related Disorders|March 22, 2025
Corrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319]Antonia M Stehr, Jan Fischer, Nazanin Mirza-Schreiber, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2014
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia familyMichael Zech, Florian Castrop, Barbara Schormair, et al.
Pageof 20