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Markus Storbeck

Showing results (11-20 of 21) with videos related to

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American Journal of Human Genetics|November 16, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and ScoliosisAndrea Delle Vedove, Markus Storbeck, Raoul Heller, et al.
Genome Medicine|May 18, 2021
Integrative statistical analyses of multiple liquid biopsy analytes in metastatic breast cancerCorinna Keup, Vinay Suryaprakash, Siegfried Hauch, et al.
American Journal of Human Genetics|December 3, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and ScoliosisAndrea Delle Vedove, Markus Storbeck, Raoul Heller, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical featuresMarkus Storbeck, Beate Horsberg Eriksen, Andreas Unger, et al.
Neurology|October 28, 2016
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementAndreas Unger, Gabriele Dekomien, Anne Güttsches, et al.
Plos Genetics|December 24, 2011
Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in developmentSushma Grellscheid, Caroline Dalgliesh, Markus Storbeck, et al.
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Report of a novel ATP7A mutation causing distal motor neuropathyFrancesca Gualandi, Elisabetta Sette, Fernanda Fortunato, et al.
Cellular and Molecular Life Sciences : CMLS|November 18, 2015
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individualsLudwig Heesen, Michael Peitz, Laura Torres-Benito, et al.
Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
American Journal of Human Genetics|November 16, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and ScoliosisAndrea Delle Vedove, Markus Storbeck, Raoul Heller, et al.
Genome Medicine|May 18, 2021
Integrative statistical analyses of multiple liquid biopsy analytes in metastatic breast cancerCorinna Keup, Vinay Suryaprakash, Siegfried Hauch, et al.
American Journal of Human Genetics|December 3, 2016
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and ScoliosisAndrea Delle Vedove, Markus Storbeck, Raoul Heller, et al.
European Journal of Human Genetics : EJHG|June 22, 2017
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical featuresMarkus Storbeck, Beate Horsberg Eriksen, Andreas Unger, et al.
Neurology|October 28, 2016
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementAndreas Unger, Gabriele Dekomien, Anne Güttsches, et al.
Plos Genetics|December 24, 2011
Identification of evolutionarily conserved exons as regulated targets for the splicing activator tra2β in developmentSushma Grellscheid, Caroline Dalgliesh, Markus Storbeck, et al.
Cellular and Molecular Life Sciences : CMLS|September 22, 2022
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxiaAndrea Delle Vedove, Janani Natarajan, Ginevra Zanni, et al.
Neuromuscular Disorders : NMD|September 28, 2019
Report of a novel ATP7A mutation causing distal motor neuropathyFrancesca Gualandi, Elisabetta Sette, Fernanda Fortunato, et al.
Cellular and Molecular Life Sciences : CMLS|November 18, 2015
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individualsLudwig Heesen, Michael Peitz, Laura Torres-Benito, et al.
Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.
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