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Michael Zech

Showing results (101-110 of 195) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|October 15, 2024
Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case ReportBarbara Castellotti, Cinzia Gellera, Davide Caputo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2017
KMT2B rare missense variants in generalized dystoniaMichael Zech, Robert Jech, Petra Havránková, et al.
Clinical Genetics|October 5, 2024
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar PathologiesAntonia M Stehr, Jerica Lenberg, Jennifer Friedman, et al.
Parkinsonism & Related Disorders|March 15, 2025
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballismEfthymia Kafantari, Victoria J Hernandez, Ján Necpál, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 24, 2013
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controlsMichael Zech, Nadine Gross, Angela Jochim, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
CACNA1C-Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological PresentationDonatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi, et al.
Cold Spring Harbor Molecular Case Studies|September 29, 2018
A unique de novo gain-of-function variant in <i>CAMK4</i> associated with intellectual disability and hyperkinetic movement disorderMichael Zech, Daniel D Lam, Sandrina Weber, et al.
Heliyon|April 25, 2023
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in <i>PARK7</i> leads to severe early-onset Parkinson's diseaseMohammad Reza Seyedtaghia, Mohammad Soudyab, Mohammad Shariati, et al.
Parkinsonism & Related Disorders|October 2, 2022
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcomeGiulia Straccia, Chiara Reale, Massimo Castellani, et al.
Neurological Research|March 7, 2022
SPG11: clinical and genetic features of seven Czech patients and literature reviewKristyna Doleckova, Jan Roth, Julia Stellmachova, et al.
Pageof 20

Showing results (101-110 of 195) with videos related to

Sort By:
Pageof 20
Movement Disorders : Official Journal of the Movement Disorder Society|October 15, 2024
Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case ReportBarbara Castellotti, Cinzia Gellera, Davide Caputo, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 19, 2017
KMT2B rare missense variants in generalized dystoniaMichael Zech, Robert Jech, Petra Havránková, et al.
Clinical Genetics|October 5, 2024
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar PathologiesAntonia M Stehr, Jerica Lenberg, Jennifer Friedman, et al.
Parkinsonism & Related Disorders|March 15, 2025
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballismEfthymia Kafantari, Victoria J Hernandez, Ján Necpál, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 24, 2013
Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controlsMichael Zech, Nadine Gross, Angela Jochim, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
CACNA1C-Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological PresentationDonatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi, et al.
Cold Spring Harbor Molecular Case Studies|September 29, 2018
A unique de novo gain-of-function variant in <i>CAMK4</i> associated with intellectual disability and hyperkinetic movement disorderMichael Zech, Daniel D Lam, Sandrina Weber, et al.
Heliyon|April 25, 2023
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in <i>PARK7</i> leads to severe early-onset Parkinson's diseaseMohammad Reza Seyedtaghia, Mohammad Soudyab, Mohammad Shariati, et al.
Parkinsonism & Related Disorders|October 2, 2022
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcomeGiulia Straccia, Chiara Reale, Massimo Castellani, et al.
Neurological Research|March 7, 2022
SPG11: clinical and genetic features of seven Czech patients and literature reviewKristyna Doleckova, Jan Roth, Julia Stellmachova, et al.
Pageof 20