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Ellen Knierim

Showing results (11-20 of 36) with videos related to

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American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhoodDenise Horn, Bernhard Weschke, Ellen Knierim, et al.
Journal of Medical Genetics|June 7, 2015
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsyAnna Rajab, Markus Schuelke, Esther Gill, et al.
Nucleic Acids Research|May 21, 2019
MutationDistiller: user-driven identification of pathogenic DNA variantsDaniela Hombach, Markus Schuelke, Ellen Knierim, et al.
Stroke|December 25, 2010
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamilEllen Knierim, Lilia Leisle, Christiane Wagner, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 19, 2020
Presence of anti-neuronal antibodies in children with neurological disorders beyond encephalitisMarc Nikolaus, Christian Meisel, Jakob Kreye, et al.
Journal of Child Neurology|April 18, 2022
Modified Zipper Method, a Promising Treatment Option in Severe Pediatric Immune-Mediated Neurologic DisordersMarc Nikolaus, Fabienne Kühne, Anna Tietze, et al.
Human Genetics|May 26, 2017
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafnessEllen Knierim, Esther Gill, Franziska Seifert, et al.
Cells|February 25, 2023
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological DiseaseSofia Schnell, Ellen Knierim, Petra Bittigau, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumMarkus Buelow, David Süßmuth, Laurie D Smith, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 3, 2025
Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre studyPaula Cramer, Marc Nikolaus, Sebastian Loos, et al.
Pageof 4

Showing results (11-20 of 36) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|June 11, 2016
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhoodDenise Horn, Bernhard Weschke, Ellen Knierim, et al.
Journal of Medical Genetics|June 7, 2015
Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsyAnna Rajab, Markus Schuelke, Esther Gill, et al.
Nucleic Acids Research|May 21, 2019
MutationDistiller: user-driven identification of pathogenic DNA variantsDaniela Hombach, Markus Schuelke, Ellen Knierim, et al.
Stroke|December 25, 2010
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamilEllen Knierim, Lilia Leisle, Christiane Wagner, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 19, 2020
Presence of anti-neuronal antibodies in children with neurological disorders beyond encephalitisMarc Nikolaus, Christian Meisel, Jakob Kreye, et al.
Journal of Child Neurology|April 18, 2022
Modified Zipper Method, a Promising Treatment Option in Severe Pediatric Immune-Mediated Neurologic DisordersMarc Nikolaus, Fabienne Kühne, Anna Tietze, et al.
Human Genetics|May 26, 2017
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafnessEllen Knierim, Esther Gill, Franziska Seifert, et al.
Cells|February 25, 2023
Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological DiseaseSofia Schnell, Ellen Knierim, Petra Bittigau, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrumMarkus Buelow, David Süßmuth, Laurie D Smith, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 3, 2025
Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre studyPaula Cramer, Marc Nikolaus, Sebastian Loos, et al.
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