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Ute Felbor

Showing results (41-50 of 71) with videos related to

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Neurogenetics|August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 geneRobin A Pilz, Matthias Begemann, Surema Pfister, et al.
European Journal of Medical Genetics|June 25, 2017
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformationsMatthias Rath, Sönke E Jenssen, Konrad Schwefel, et al.
Neurosurgical Review|December 26, 2006
CCM1 gene deletion identified by MLPA in cerebral cavernous malformationSabine Gaetzner, Sonja Stahl, Oguzkan Sürücü, et al.
Journal of the Neurological Sciences|July 19, 2017
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport diseaseMatthias Rath, G Christoph Korenke, Juliane Najm, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 6, 2002
Neuronal loss and brain atrophy in mice lacking cathepsins B and LUte Felbor, Benedikt Kessler, Walther Mothes, et al.
Frontiers in Molecular Biosciences|September 12, 2022
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel <i>CCM1</i> transcription start site deletionRobin A Pilz, Dariush Skowronek, Motaz Hamed, et al.
Cancer Research|August 4, 2004
Sensitization to the lysosomal cell death pathway upon immortalization and transformationNicole Fehrenbacher, Mads Gyrd-Hansen, Birgit Poulsen, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 10, 2010
Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signalingJoycelyn Wüstehube, Arne Bartol, Sven S Liebler, et al.
Journal of Cellular and Molecular Medicine|December 15, 2018
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffeningKonrad Schwefel, Stefanie Spiegler, Sabine Ameling, et al.
International Journal of Molecular Sciences|December 23, 2022
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in <i>CCM</i> GenesDariush Skowronek, Robin A Pilz, Loisa Bonde, et al.
Pageof 8

Showing results (41-50 of 71) with videos related to

Sort By:
Pageof 8
Neurogenetics|August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 geneRobin A Pilz, Matthias Begemann, Surema Pfister, et al.
European Journal of Medical Genetics|June 25, 2017
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformationsMatthias Rath, Sönke E Jenssen, Konrad Schwefel, et al.
Neurosurgical Review|December 26, 2006
CCM1 gene deletion identified by MLPA in cerebral cavernous malformationSabine Gaetzner, Sonja Stahl, Oguzkan Sürücü, et al.
Journal of the Neurological Sciences|July 19, 2017
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport diseaseMatthias Rath, G Christoph Korenke, Juliane Najm, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 6, 2002
Neuronal loss and brain atrophy in mice lacking cathepsins B and LUte Felbor, Benedikt Kessler, Walther Mothes, et al.
Frontiers in Molecular Biosciences|September 12, 2022
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel <i>CCM1</i> transcription start site deletionRobin A Pilz, Dariush Skowronek, Motaz Hamed, et al.
Cancer Research|August 4, 2004
Sensitization to the lysosomal cell death pathway upon immortalization and transformationNicole Fehrenbacher, Mads Gyrd-Hansen, Birgit Poulsen, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 10, 2010
Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signalingJoycelyn Wüstehube, Arne Bartol, Sven S Liebler, et al.
Journal of Cellular and Molecular Medicine|December 15, 2018
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffeningKonrad Schwefel, Stefanie Spiegler, Sabine Ameling, et al.
International Journal of Molecular Sciences|December 23, 2022
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in <i>CCM</i> GenesDariush Skowronek, Robin A Pilz, Loisa Bonde, et al.
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