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Matias Wagner

Showing results (61-70 of 188) with videos related to

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Gene|April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine casesPonghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, 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.
EMBO Reports|March 25, 2025
Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signallingJohannes Lang, Tim Bergner, Julia Zinngrebe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 22, 2023
Epigenetic Association Analyses and Risk Prediction of RLSPhilip Harrer, Nazanin Mirza-Schreiber, Vanessa Mandel, et al.
Journal of Medical Genetics|February 23, 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genesMartin Krenn, Matias Wagner, Christoph Hotzy, et al.
Annals of Clinical and Translational Neurology|May 1, 2024
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutationTandis Parvizi, Sigrid Klotz, Omar Keritam, et al.
Journal of Neuromuscular Diseases|October 22, 2025
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weaknessOmar Keritam, Philipp Haas, Sigrid Klotz, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
Rheumatology (Oxford, England)|October 21, 2022
Brain oedema due to disseminated intravascular coagulation in a patient with adult-onset Still's disease-associated hemophagocytic lymphohistiocytosis-a case reportGeorg Lorenz, Christian Schaaf, Philipp Moog, 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.
Pageof 19

Showing results (61-70 of 188) with videos related to

Sort By:
Pageof 19
Gene|April 28, 2020
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine casesPonghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, 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.
EMBO Reports|March 25, 2025
Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signallingJohannes Lang, Tim Bergner, Julia Zinngrebe, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 22, 2023
Epigenetic Association Analyses and Risk Prediction of RLSPhilip Harrer, Nazanin Mirza-Schreiber, Vanessa Mandel, et al.
Journal of Medical Genetics|February 23, 2020
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genesMartin Krenn, Matias Wagner, Christoph Hotzy, et al.
Annals of Clinical and Translational Neurology|May 1, 2024
Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutationTandis Parvizi, Sigrid Klotz, Omar Keritam, et al.
Journal of Neuromuscular Diseases|October 22, 2025
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weaknessOmar Keritam, Philipp Haas, Sigrid Klotz, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
Rheumatology (Oxford, England)|October 21, 2022
Brain oedema due to disseminated intravascular coagulation in a patient with adult-onset Still's disease-associated hemophagocytic lymphohistiocytosis-a case reportGeorg Lorenz, Christian Schaaf, Philipp Moog, 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.
Pageof 19