Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-05-11

AUTHORS

Andreas Ziegler, Ekkehard Wilichowski, Ulrike Schara, Andreas Hahn, Wolfgang Müller-Felber, Jessika Johannsen, Maja von der Hagen, Arpad von Moers, Corinna Stoltenburg, Afshin Saffari, Maggie C. Walter, Ralf A. Husain, Astrid Pechmann, Cornelia Köhler, Veronka Horber, Oliver Schwartz, Janbernd Kirschner

ABSTRACT

BackgroundSpinal muscular atrophy (SMA) is a severe, life-limiting neurodegenerative disease. A disease-modifying and approved therapy with nusinersen has been available in Germany since July 2017. Gene therapies offer another promising treatment option through a once in a lifetime administration. In May 2019 a gene replacement therapy for the treatment of SMA was approved for the first time by the U.S. Food and Drug Administration (FDA). An application for approval in Europe has been submitted and is currently pending.ObjectiveThis consensus paper was compiled at the invitation of the German Society for Muscular Diseases (DGM) with the participation of all potential German neuromuscular treatment centers, the German section of the Society for Pediatric Neurology (GNP) and with the involvement of the medical scientific advisory board of the DGM. The aim was to define and establish the necessary prerequisites for a safe and successful application of the new gene replacement therapy in clinical practice.ConclusionGene replacement therapy with onasemnogene abeparvovec has the potential to significantly influence the course of SMA. Long-term data on sustainability of effects and possible adverse effects of gene replacement therapy are not yet available. The application of this innovative therapy must be carried out in specialized and appropriately qualified treatment centers under strict safety conditions. This article makes suggestions for the necessary framework conditions and gives recommendations for a systematic pretreatment and posttreatment assessment schedule under gene therapy. The effectiveness and safety of the therapy should be systematically documented in an industry-independent and disease-specific register. More... »

PAGES

518-529

Journal

TITLE

Der Nervenarzt

ISSUE

6

VOLUME

91

Author Affiliations

  • Zentrum für Kinder- und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland
  • Abteilung Neuropädiatrie und Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Göttingen, Göttingen, Deutschland
  • Abteilung für Neuropädiatrie, Zentrum für neuromuskuläre Erkrankungen des Kindes- und Jugendalters, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland
  • Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Gießen, Deutschland
  • Dr. v. Hauner’sche Kinderklinik, Universitätskinderklinik, Ludwig-Maximilians-Universität, München, Deutschland
  • Neuropädiatrie, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland
  • Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland
  • Klinik für Kinder- und Jugendmedizin, DRK Kliniken Berlin, Berlin, Deutschland
  • Sozialpädiatrisches Zentrum, Charité – Universitätsmedizin Berlin, Berlin, Deutschland
  • Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Deutschland
  • Klinik für Neuropädiatrie, Universitätsklinikum Jena, Jena, Deutschland
  • Klinik für Neuropädiatrie und Muskelerkrankungen, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Freiburg, Deutschland
  • Abteilung für Neuropädiatrie mit Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Ruhr-Universität Bochum, Bochum, Deutschland
  • Abteilung Neuropädiatrie, Entwicklungsneurologie und Sozialpädiatrie, Universitätsklinik für Kinder- und Jugendmedizin, Tübingen, Deutschland
  • Abteilung für Allgemeine Pädiatrie – Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Deutschland
  • Abteilung Neuropädiatrie und Sozialpädiatrisches Zentrum, Zentrum für Kinderheilkunde, Universitätsklinikum Bonn, Bonn, Deutschland
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00115-020-00919-8

    DOI

    http://dx.doi.org/10.1007/s00115-020-00919-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1127514887

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/32394004


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Clinical Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Consensus", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Europe", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Therapy", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Germany", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Muscular Atrophy, Spinal", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Muscular Diseases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Neurodegenerative Diseases", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Neurology", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Zentrum f\u00fcr Kinder- und Jugendmedizin Heidelberg, Sektion Neurop\u00e4diatrie und Stoffwechselmedizin, Universit\u00e4tsklinikum Heidelberg, Im Neuenheimer Feld\u00a0430, 69120, Heidelberg, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.5253.1", 
              "name": [
                "Zentrum f\u00fcr Kinder- und Jugendmedizin Heidelberg, Sektion Neurop\u00e4diatrie und Stoffwechselmedizin, Universit\u00e4tsklinikum Heidelberg, Im Neuenheimer Feld\u00a0430, 69120, Heidelberg, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ziegler", 
            "givenName": "Andreas", 
            "id": "sg:person.01207532423.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207532423.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung Neurop\u00e4diatrie und Sozialp\u00e4diatrie, Klinik f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsmedizin G\u00f6ttingen, G\u00f6ttingen, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.411984.1", 
              "name": [
                "Abteilung Neurop\u00e4diatrie und Sozialp\u00e4diatrie, Klinik f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsmedizin G\u00f6ttingen, G\u00f6ttingen, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wilichowski", 
            "givenName": "Ekkehard", 
            "id": "sg:person.01130007500.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130007500.10"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung f\u00fcr Neurop\u00e4diatrie, Zentrum f\u00fcr neuromuskul\u00e4re Erkrankungen des Kindes- und Jugendalters, Universit\u00e4tsklinikum Essen, Universit\u00e4t Duisburg-Essen, Essen, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.410718.b", 
              "name": [
                "Abteilung f\u00fcr Neurop\u00e4diatrie, Zentrum f\u00fcr neuromuskul\u00e4re Erkrankungen des Kindes- und Jugendalters, Universit\u00e4tsklinikum Essen, Universit\u00e4t Duisburg-Essen, Essen, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schara", 
            "givenName": "Ulrike", 
            "id": "sg:person.01133657416.38", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133657416.38"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung Kinderneurologie, Sozialp\u00e4diatrie und Epileptologie, Zentrum Kinderheilkunde, Justus-Liebig-Universit\u00e4t, Gie\u00dfen, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.8664.c", 
              "name": [
                "Abteilung Kinderneurologie, Sozialp\u00e4diatrie und Epileptologie, Zentrum Kinderheilkunde, Justus-Liebig-Universit\u00e4t, Gie\u00dfen, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hahn", 
            "givenName": "Andreas", 
            "id": "sg:person.0721031255.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721031255.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Dr. v. Hauner\u2019sche Kinderklinik, Universit\u00e4tskinderklinik, Ludwig-Maximilians-Universit\u00e4t, M\u00fcnchen, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.411095.8", 
              "name": [
                "Dr. v. Hauner\u2019sche Kinderklinik, Universit\u00e4tskinderklinik, Ludwig-Maximilians-Universit\u00e4t, M\u00fcnchen, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "M\u00fcller-Felber", 
            "givenName": "Wolfgang", 
            "id": "sg:person.01147147152.72", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01147147152.72"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Neurop\u00e4diatrie, Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsklinikum Hamburg-Eppendorf, Hamburg, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.13648.38", 
              "name": [
                "Neurop\u00e4diatrie, Klinik und Poliklinik f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsklinikum Hamburg-Eppendorf, Hamburg, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Johannsen", 
            "givenName": "Jessika", 
            "id": "sg:person.0715660253.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715660253.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung Neurop\u00e4diatrie, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Dresden, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.4488.0", 
              "name": [
                "Abteilung Neurop\u00e4diatrie, Medizinische Fakult\u00e4t Carl Gustav Carus, Technische Universit\u00e4t Dresden, Dresden, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "von der  Hagen", 
            "givenName": "Maja", 
            "id": "sg:person.0700502521.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700502521.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Klinik f\u00fcr Kinder- und Jugendmedizin, DRK Kliniken Berlin, Berlin, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.500030.6", 
              "name": [
                "Klinik f\u00fcr Kinder- und Jugendmedizin, DRK Kliniken Berlin, Berlin, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "von Moers", 
            "givenName": "Arpad", 
            "id": "sg:person.01155171261.36", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155171261.36"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sozialp\u00e4diatrisches Zentrum, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Berlin, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.6363.0", 
              "name": [
                "Sozialp\u00e4diatrisches Zentrum, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Berlin, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Stoltenburg", 
            "givenName": "Corinna", 
            "id": "sg:person.014531632247.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014531632247.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Zentrum f\u00fcr Kinder- und Jugendmedizin Heidelberg, Sektion Neurop\u00e4diatrie und Stoffwechselmedizin, Universit\u00e4tsklinikum Heidelberg, Im Neuenheimer Feld\u00a0430, 69120, Heidelberg, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.5253.1", 
              "name": [
                "Zentrum f\u00fcr Kinder- und Jugendmedizin Heidelberg, Sektion Neurop\u00e4diatrie und Stoffwechselmedizin, Universit\u00e4tsklinikum Heidelberg, Im Neuenheimer Feld\u00a0430, 69120, Heidelberg, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Saffari", 
            "givenName": "Afshin", 
            "id": "sg:person.01322611423.37", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322611423.37"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universit\u00e4t, M\u00fcnchen, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.5252.0", 
              "name": [
                "Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universit\u00e4t, M\u00fcnchen, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Walter", 
            "givenName": "Maggie C.", 
            "id": "sg:person.01004405606.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004405606.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Klinik f\u00fcr Neurop\u00e4diatrie, Universit\u00e4tsklinikum Jena, Jena, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.275559.9", 
              "name": [
                "Klinik f\u00fcr Neurop\u00e4diatrie, Universit\u00e4tsklinikum Jena, Jena, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Husain", 
            "givenName": "Ralf A.", 
            "id": "sg:person.01255655775.30", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255655775.30"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Klinik f\u00fcr Neurop\u00e4diatrie und Muskelerkrankungen, Zentrum f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsklinikum Freiburg, Medizinische Fakult\u00e4t, Albert-Ludwigs-Universit\u00e4t Freiburg, Freiburg, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.5963.9", 
              "name": [
                "Klinik f\u00fcr Neurop\u00e4diatrie und Muskelerkrankungen, Zentrum f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsklinikum Freiburg, Medizinische Fakult\u00e4t, Albert-Ludwigs-Universit\u00e4t Freiburg, Freiburg, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pechmann", 
            "givenName": "Astrid", 
            "id": "sg:person.0707430255.92", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707430255.92"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung f\u00fcr Neurop\u00e4diatrie mit Sozialp\u00e4diatrie, Klinik f\u00fcr Kinder- und Jugendmedizin, Ruhr-Universit\u00e4t Bochum, Bochum, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.5570.7", 
              "name": [
                "Abteilung f\u00fcr Neurop\u00e4diatrie mit Sozialp\u00e4diatrie, Klinik f\u00fcr Kinder- und Jugendmedizin, Ruhr-Universit\u00e4t Bochum, Bochum, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "K\u00f6hler", 
            "givenName": "Cornelia", 
            "id": "sg:person.01052673126.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052673126.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung Neurop\u00e4diatrie, Entwicklungsneurologie und Sozialp\u00e4diatrie, Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin, T\u00fcbingen, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.488549.c", 
              "name": [
                "Abteilung Neurop\u00e4diatrie, Entwicklungsneurologie und Sozialp\u00e4diatrie, Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin, T\u00fcbingen, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Horber", 
            "givenName": "Veronka", 
            "id": "sg:person.01327662273.91", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327662273.91"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung f\u00fcr Allgemeine P\u00e4diatrie \u2013 Neurop\u00e4diatrie, Klinik f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsklinikum M\u00fcnster, M\u00fcnster, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.16149.3b", 
              "name": [
                "Abteilung f\u00fcr Allgemeine P\u00e4diatrie \u2013 Neurop\u00e4diatrie, Klinik f\u00fcr Kinder- und Jugendmedizin, Universit\u00e4tsklinikum M\u00fcnster, M\u00fcnster, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schwartz", 
            "givenName": "Oliver", 
            "id": "sg:person.013150304271.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013150304271.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Abteilung Neurop\u00e4diatrie und Sozialp\u00e4diatrisches Zentrum, Zentrum f\u00fcr Kinderheilkunde, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland", 
              "id": "http://www.grid.ac/institutes/grid.470032.2", 
              "name": [
                "Abteilung Neurop\u00e4diatrie und Sozialp\u00e4diatrisches Zentrum, Zentrum f\u00fcr Kinderheilkunde, Universit\u00e4tsklinikum Bonn, Bonn, Deutschland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kirschner", 
            "givenName": "Janbernd", 
            "id": "sg:person.0717435623.02", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717435623.02"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/s41573-019-0012-9", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111832441", 
              "https://doi.org/10.1038/s41573-019-0012-9"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng.3389", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009452373", 
              "https://doi.org/10.1038/ng.3389"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/s13023-019-0998-4", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1111576845", 
              "https://doi.org/10.1186/s13023-019-0998-4"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00018-018-2849-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1104408852", 
              "https://doi.org/10.1007/s00018-018-2849-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00115-019-0761-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1117831515", 
              "https://doi.org/10.1007/s00115-019-0761-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nbt.1610", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1026693143", 
              "https://doi.org/10.1038/nbt.1610"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2020-05-11", 
        "datePublishedReg": "2020-05-11", 
        "description": "BackgroundSpinal muscular atrophy (SMA) is a\u00a0severe, life-limiting neurodegenerative disease. A\u00a0disease-modifying and approved therapy with nusinersen has been available in Germany since July 2017. Gene therapies offer another promising treatment option through a once in a lifetime administration. In May 2019 a\u00a0gene replacement therapy for the treatment of SMA was approved for the first time by the U.S. Food and Drug Administration (FDA). An application for approval in Europe has been submitted and is currently pending.ObjectiveThis consensus paper was compiled at the invitation of the German Society for Muscular Diseases (DGM) with the participation of all potential German neuromuscular treatment centers, the German section of the Society for Pediatric Neurology (GNP) and with the involvement of the medical scientific advisory board of the DGM. The aim was to define and establish the necessary prerequisites for a\u00a0safe and successful application of the new gene replacement therapy in clinical practice.ConclusionGene replacement therapy with onasemnogene abeparvovec has the potential to significantly influence the course of SMA. Long-term data on sustainability of effects and possible adverse effects of gene replacement therapy are not yet available. The application of this innovative therapy must be carried out in specialized and appropriately qualified treatment centers under strict safety conditions. This article makes suggestions for the necessary framework conditions and gives recommendations for a\u00a0systematic pretreatment and posttreatment assessment schedule under gene therapy. The effectiveness and safety of the therapy should be systematically documented in an industry-independent and disease-specific register.", 
        "genre": "article", 
        "id": "sg:pub.10.1007/s00115-020-00919-8", 
        "inLanguage": "de", 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1018193", 
            "issn": [
              "0028-2804", 
              "1433-0407"
            ], 
            "name": "Der Nervenarzt", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "6", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "91"
          }
        ], 
        "keywords": [
          "replacement therapy", 
          "gene replacement therapy", 
          "treatment centers", 
          "Medical Scientific Advisory Board", 
          "BackgroundSpinal muscular atrophy", 
          "promising treatment option", 
          "disease-specific register", 
          "sustainability of effects", 
          "possible adverse effects", 
          "gene therapy", 
          "lifetime administration", 
          "treatment options", 
          "onasemnogene abeparvovec", 
          "pediatric neurology", 
          "Assessment Schedule", 
          "consensus paper", 
          "clinical practice", 
          "innovative therapies", 
          "Drug Administration", 
          "muscular atrophy", 
          "therapy", 
          "Scientific Advisory Board", 
          "neurodegenerative diseases", 
          "systematic pretreatment", 
          "U.S. Food", 
          "adverse effects", 
          "muscular diseases", 
          "long-term data", 
          "disease", 
          "administration", 
          "German Society", 
          "Advisory Board", 
          "atrophy", 
          "nusinersen", 
          "neurology", 
          "treatment", 
          "center", 
          "Register", 
          "approval", 
          "involvement", 
          "pretreatment", 
          "SMA", 
          "safety", 
          "effect", 
          "options", 
          "aim", 
          "course", 
          "food", 
          "recommendations", 
          "schedule", 
          "necessary prerequisite", 
          "first time", 
          "practice", 
          "German section", 
          "invitation", 
          "data", 
          "participation", 
          "conditions", 
          "effectiveness", 
          "time", 
          "potential", 
          "society", 
          "safety conditions", 
          "sections", 
          "prerequisite", 
          "suggestions", 
          "Germany", 
          "necessary framework conditions", 
          "article", 
          "board", 
          "Europe", 
          "successful application", 
          "DERs", 
          "DGM", 
          "applications", 
          "sustainability", 
          "framework conditions", 
          "paper"
        ], 
        "name": "Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec \u2013 AVXS-101", 
        "pagination": "518-529", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1127514887"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s00115-020-00919-8"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "32394004"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s00115-020-00919-8", 
          "https://app.dimensions.ai/details/publication/pub.1127514887"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-06-01T22:22", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220601/entities/gbq_results/article/article_838.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1007/s00115-020-00919-8"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00115-020-00919-8'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00115-020-00919-8'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00115-020-00919-8'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00115-020-00919-8'


     

    This table displays all metadata directly associated to this object as RDF triples.

    361 TRIPLES      22 PREDICATES      119 URIs      105 LITERALS      17 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s00115-020-00919-8 schema:about N0b6b7ab9abb945139373e953f5feabe1
    2 N2717f9c0c4c64d9aaa057bfc6e4f3e9a
    3 N5a91464dbd3b4782aa0281fd1caa4181
    4 N5e2956d72b574776aae5a2f06edb6542
    5 N7ad69d0aabff41eb8a2c5df8662620f7
    6 N91ffac0fcd5c41dd8eed368843d43205
    7 Nadb17816dace40d4b83778c21a3b20c8
    8 Nc3a471bdf1934f9494a5b2ebdf52b14e
    9 Nd88085a007684d92b3ab9e7643f38a2f
    10 Ndd929478a3dc4424b34c26e7c70dd933
    11 anzsrc-for:11
    12 anzsrc-for:1103
    13 schema:author Nc62a1ebc00bc4d8eb877c5324f3eb6a1
    14 schema:citation sg:pub.10.1007/s00018-018-2849-1
    15 sg:pub.10.1007/s00115-019-0761-z
    16 sg:pub.10.1038/nbt.1610
    17 sg:pub.10.1038/ng.3389
    18 sg:pub.10.1038/s41573-019-0012-9
    19 sg:pub.10.1186/s13023-019-0998-4
    20 schema:datePublished 2020-05-11
    21 schema:datePublishedReg 2020-05-11
    22 schema:description BackgroundSpinal muscular atrophy (SMA) is a severe, life-limiting neurodegenerative disease. A disease-modifying and approved therapy with nusinersen has been available in Germany since July 2017. Gene therapies offer another promising treatment option through a once in a lifetime administration. In May 2019 a gene replacement therapy for the treatment of SMA was approved for the first time by the U.S. Food and Drug Administration (FDA). An application for approval in Europe has been submitted and is currently pending.ObjectiveThis consensus paper was compiled at the invitation of the German Society for Muscular Diseases (DGM) with the participation of all potential German neuromuscular treatment centers, the German section of the Society for Pediatric Neurology (GNP) and with the involvement of the medical scientific advisory board of the DGM. The aim was to define and establish the necessary prerequisites for a safe and successful application of the new gene replacement therapy in clinical practice.ConclusionGene replacement therapy with onasemnogene abeparvovec has the potential to significantly influence the course of SMA. Long-term data on sustainability of effects and possible adverse effects of gene replacement therapy are not yet available. The application of this innovative therapy must be carried out in specialized and appropriately qualified treatment centers under strict safety conditions. This article makes suggestions for the necessary framework conditions and gives recommendations for a systematic pretreatment and posttreatment assessment schedule under gene therapy. The effectiveness and safety of the therapy should be systematically documented in an industry-independent and disease-specific register.
    23 schema:genre article
    24 schema:inLanguage de
    25 schema:isAccessibleForFree true
    26 schema:isPartOf N0d1c9776c6844b2cac0d2bc431585f65
    27 Na2c325b8f28e461db4053d38ee06ac16
    28 sg:journal.1018193
    29 schema:keywords Advisory Board
    30 Assessment Schedule
    31 BackgroundSpinal muscular atrophy
    32 DERs
    33 DGM
    34 Drug Administration
    35 Europe
    36 German Society
    37 German section
    38 Germany
    39 Medical Scientific Advisory Board
    40 Register
    41 SMA
    42 Scientific Advisory Board
    43 U.S. Food
    44 administration
    45 adverse effects
    46 aim
    47 applications
    48 approval
    49 article
    50 atrophy
    51 board
    52 center
    53 clinical practice
    54 conditions
    55 consensus paper
    56 course
    57 data
    58 disease
    59 disease-specific register
    60 effect
    61 effectiveness
    62 first time
    63 food
    64 framework conditions
    65 gene replacement therapy
    66 gene therapy
    67 innovative therapies
    68 invitation
    69 involvement
    70 lifetime administration
    71 long-term data
    72 muscular atrophy
    73 muscular diseases
    74 necessary framework conditions
    75 necessary prerequisite
    76 neurodegenerative diseases
    77 neurology
    78 nusinersen
    79 onasemnogene abeparvovec
    80 options
    81 paper
    82 participation
    83 pediatric neurology
    84 possible adverse effects
    85 potential
    86 practice
    87 prerequisite
    88 pretreatment
    89 promising treatment option
    90 recommendations
    91 replacement therapy
    92 safety
    93 safety conditions
    94 schedule
    95 sections
    96 society
    97 successful application
    98 suggestions
    99 sustainability
    100 sustainability of effects
    101 systematic pretreatment
    102 therapy
    103 time
    104 treatment
    105 treatment centers
    106 treatment options
    107 schema:name Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101
    108 schema:pagination 518-529
    109 schema:productId N3576ee4f589d440ebd96deee5414f500
    110 Nbbf29de080504bcab0390cfdf0e265f5
    111 Nf29f544c88b44c8597552d5feca10c47
    112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1127514887
    113 https://doi.org/10.1007/s00115-020-00919-8
    114 schema:sdDatePublished 2022-06-01T22:22
    115 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    116 schema:sdPublisher N1e9e3e7d4c0641fdaa854699a7b6ff77
    117 schema:url https://doi.org/10.1007/s00115-020-00919-8
    118 sgo:license sg:explorer/license/
    119 sgo:sdDataset articles
    120 rdf:type schema:ScholarlyArticle
    121 N048de485756640c098f7044e9a77488d rdf:first sg:person.0717435623.02
    122 rdf:rest rdf:nil
    123 N0b6b7ab9abb945139373e953f5feabe1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    124 schema:name Child
    125 rdf:type schema:DefinedTerm
    126 N0d1c9776c6844b2cac0d2bc431585f65 schema:issueNumber 6
    127 rdf:type schema:PublicationIssue
    128 N1e9e3e7d4c0641fdaa854699a7b6ff77 schema:name Springer Nature - SN SciGraph project
    129 rdf:type schema:Organization
    130 N20edbdd2e8a848108df13f216172139e rdf:first sg:person.01147147152.72
    131 rdf:rest N4f910430582b40f0a96e62247387e397
    132 N2717f9c0c4c64d9aaa057bfc6e4f3e9a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    133 schema:name Neurology
    134 rdf:type schema:DefinedTerm
    135 N2af6a457c3684380bb759fd88a642f90 rdf:first sg:person.01133657416.38
    136 rdf:rest N47091c5e119a45a491e58a717103b1bf
    137 N30aa30d5d7f54b8da277cc26f7b387f4 rdf:first sg:person.01322611423.37
    138 rdf:rest Nf2f5106955cf467abd069e4e7ef71217
    139 N3576ee4f589d440ebd96deee5414f500 schema:name dimensions_id
    140 schema:value pub.1127514887
    141 rdf:type schema:PropertyValue
    142 N47091c5e119a45a491e58a717103b1bf rdf:first sg:person.0721031255.31
    143 rdf:rest N20edbdd2e8a848108df13f216172139e
    144 N4f910430582b40f0a96e62247387e397 rdf:first sg:person.0715660253.99
    145 rdf:rest Nffa4f93b48cd4389b9e3d9dfb6967cad
    146 N5a91464dbd3b4782aa0281fd1caa4181 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Genetic Therapy
    148 rdf:type schema:DefinedTerm
    149 N5e2956d72b574776aae5a2f06edb6542 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    150 schema:name Muscular Diseases
    151 rdf:type schema:DefinedTerm
    152 N65a068dbcf6240beb819d49a45ad3609 rdf:first sg:person.0707430255.92
    153 rdf:rest Nae7863dfae8540e581e5ae0de5b84122
    154 N6817b6db313b4502a1ae1d63fc11b93e rdf:first sg:person.01130007500.10
    155 rdf:rest N2af6a457c3684380bb759fd88a642f90
    156 N7ad69d0aabff41eb8a2c5df8662620f7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    157 schema:name Consensus
    158 rdf:type schema:DefinedTerm
    159 N8e322085ae6744f39fb2065b65b9f878 rdf:first sg:person.01255655775.30
    160 rdf:rest N65a068dbcf6240beb819d49a45ad3609
    161 N91ffac0fcd5c41dd8eed368843d43205 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    162 schema:name Germany
    163 rdf:type schema:DefinedTerm
    164 N940867bb16ef47598020e442268e2e90 rdf:first sg:person.01155171261.36
    165 rdf:rest Nb4b6b306bce241f49f3d6e5b6bd730c3
    166 Na2c325b8f28e461db4053d38ee06ac16 schema:volumeNumber 91
    167 rdf:type schema:PublicationVolume
    168 Nadb17816dace40d4b83778c21a3b20c8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    169 schema:name Neurodegenerative Diseases
    170 rdf:type schema:DefinedTerm
    171 Nae7863dfae8540e581e5ae0de5b84122 rdf:first sg:person.01052673126.62
    172 rdf:rest Ndd0c14e6092b460c90e26a52dc116484
    173 Nb4b6b306bce241f49f3d6e5b6bd730c3 rdf:first sg:person.014531632247.82
    174 rdf:rest N30aa30d5d7f54b8da277cc26f7b387f4
    175 Nbbf29de080504bcab0390cfdf0e265f5 schema:name pubmed_id
    176 schema:value 32394004
    177 rdf:type schema:PropertyValue
    178 Nc3a471bdf1934f9494a5b2ebdf52b14e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    179 schema:name Humans
    180 rdf:type schema:DefinedTerm
    181 Nc62a1ebc00bc4d8eb877c5324f3eb6a1 rdf:first sg:person.01207532423.34
    182 rdf:rest N6817b6db313b4502a1ae1d63fc11b93e
    183 Nd26e0a9bc6ac4231a8924c2b35b97f8d rdf:first sg:person.013150304271.05
    184 rdf:rest N048de485756640c098f7044e9a77488d
    185 Nd88085a007684d92b3ab9e7643f38a2f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    186 schema:name Europe
    187 rdf:type schema:DefinedTerm
    188 Ndd0c14e6092b460c90e26a52dc116484 rdf:first sg:person.01327662273.91
    189 rdf:rest Nd26e0a9bc6ac4231a8924c2b35b97f8d
    190 Ndd929478a3dc4424b34c26e7c70dd933 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    191 schema:name Muscular Atrophy, Spinal
    192 rdf:type schema:DefinedTerm
    193 Nf29f544c88b44c8597552d5feca10c47 schema:name doi
    194 schema:value 10.1007/s00115-020-00919-8
    195 rdf:type schema:PropertyValue
    196 Nf2f5106955cf467abd069e4e7ef71217 rdf:first sg:person.01004405606.60
    197 rdf:rest N8e322085ae6744f39fb2065b65b9f878
    198 Nffa4f93b48cd4389b9e3d9dfb6967cad rdf:first sg:person.0700502521.18
    199 rdf:rest N940867bb16ef47598020e442268e2e90
    200 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    201 schema:name Medical and Health Sciences
    202 rdf:type schema:DefinedTerm
    203 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
    204 schema:name Clinical Sciences
    205 rdf:type schema:DefinedTerm
    206 sg:journal.1018193 schema:issn 0028-2804
    207 1433-0407
    208 schema:name Der Nervenarzt
    209 schema:publisher Springer Nature
    210 rdf:type schema:Periodical
    211 sg:person.01004405606.60 schema:affiliation grid-institutes:grid.5252.0
    212 schema:familyName Walter
    213 schema:givenName Maggie C.
    214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01004405606.60
    215 rdf:type schema:Person
    216 sg:person.01052673126.62 schema:affiliation grid-institutes:grid.5570.7
    217 schema:familyName Köhler
    218 schema:givenName Cornelia
    219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052673126.62
    220 rdf:type schema:Person
    221 sg:person.01130007500.10 schema:affiliation grid-institutes:grid.411984.1
    222 schema:familyName Wilichowski
    223 schema:givenName Ekkehard
    224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130007500.10
    225 rdf:type schema:Person
    226 sg:person.01133657416.38 schema:affiliation grid-institutes:grid.410718.b
    227 schema:familyName Schara
    228 schema:givenName Ulrike
    229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133657416.38
    230 rdf:type schema:Person
    231 sg:person.01147147152.72 schema:affiliation grid-institutes:grid.411095.8
    232 schema:familyName Müller-Felber
    233 schema:givenName Wolfgang
    234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01147147152.72
    235 rdf:type schema:Person
    236 sg:person.01155171261.36 schema:affiliation grid-institutes:grid.500030.6
    237 schema:familyName von Moers
    238 schema:givenName Arpad
    239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155171261.36
    240 rdf:type schema:Person
    241 sg:person.01207532423.34 schema:affiliation grid-institutes:grid.5253.1
    242 schema:familyName Ziegler
    243 schema:givenName Andreas
    244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207532423.34
    245 rdf:type schema:Person
    246 sg:person.01255655775.30 schema:affiliation grid-institutes:grid.275559.9
    247 schema:familyName Husain
    248 schema:givenName Ralf A.
    249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255655775.30
    250 rdf:type schema:Person
    251 sg:person.013150304271.05 schema:affiliation grid-institutes:grid.16149.3b
    252 schema:familyName Schwartz
    253 schema:givenName Oliver
    254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013150304271.05
    255 rdf:type schema:Person
    256 sg:person.01322611423.37 schema:affiliation grid-institutes:grid.5253.1
    257 schema:familyName Saffari
    258 schema:givenName Afshin
    259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322611423.37
    260 rdf:type schema:Person
    261 sg:person.01327662273.91 schema:affiliation grid-institutes:grid.488549.c
    262 schema:familyName Horber
    263 schema:givenName Veronka
    264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327662273.91
    265 rdf:type schema:Person
    266 sg:person.014531632247.82 schema:affiliation grid-institutes:grid.6363.0
    267 schema:familyName Stoltenburg
    268 schema:givenName Corinna
    269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014531632247.82
    270 rdf:type schema:Person
    271 sg:person.0700502521.18 schema:affiliation grid-institutes:grid.4488.0
    272 schema:familyName von der Hagen
    273 schema:givenName Maja
    274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0700502521.18
    275 rdf:type schema:Person
    276 sg:person.0707430255.92 schema:affiliation grid-institutes:grid.5963.9
    277 schema:familyName Pechmann
    278 schema:givenName Astrid
    279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707430255.92
    280 rdf:type schema:Person
    281 sg:person.0715660253.99 schema:affiliation grid-institutes:grid.13648.38
    282 schema:familyName Johannsen
    283 schema:givenName Jessika
    284 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0715660253.99
    285 rdf:type schema:Person
    286 sg:person.0717435623.02 schema:affiliation grid-institutes:grid.470032.2
    287 schema:familyName Kirschner
    288 schema:givenName Janbernd
    289 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717435623.02
    290 rdf:type schema:Person
    291 sg:person.0721031255.31 schema:affiliation grid-institutes:grid.8664.c
    292 schema:familyName Hahn
    293 schema:givenName Andreas
    294 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0721031255.31
    295 rdf:type schema:Person
    296 sg:pub.10.1007/s00018-018-2849-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1104408852
    297 https://doi.org/10.1007/s00018-018-2849-1
    298 rdf:type schema:CreativeWork
    299 sg:pub.10.1007/s00115-019-0761-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1117831515
    300 https://doi.org/10.1007/s00115-019-0761-z
    301 rdf:type schema:CreativeWork
    302 sg:pub.10.1038/nbt.1610 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026693143
    303 https://doi.org/10.1038/nbt.1610
    304 rdf:type schema:CreativeWork
    305 sg:pub.10.1038/ng.3389 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009452373
    306 https://doi.org/10.1038/ng.3389
    307 rdf:type schema:CreativeWork
    308 sg:pub.10.1038/s41573-019-0012-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111832441
    309 https://doi.org/10.1038/s41573-019-0012-9
    310 rdf:type schema:CreativeWork
    311 sg:pub.10.1186/s13023-019-0998-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1111576845
    312 https://doi.org/10.1186/s13023-019-0998-4
    313 rdf:type schema:CreativeWork
    314 grid-institutes:grid.13648.38 schema:alternateName Neuropädiatrie, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland
    315 schema:name Neuropädiatrie, Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Deutschland
    316 rdf:type schema:Organization
    317 grid-institutes:grid.16149.3b schema:alternateName Abteilung für Allgemeine Pädiatrie – Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Deutschland
    318 schema:name Abteilung für Allgemeine Pädiatrie – Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Münster, Deutschland
    319 rdf:type schema:Organization
    320 grid-institutes:grid.275559.9 schema:alternateName Klinik für Neuropädiatrie, Universitätsklinikum Jena, Jena, Deutschland
    321 schema:name Klinik für Neuropädiatrie, Universitätsklinikum Jena, Jena, Deutschland
    322 rdf:type schema:Organization
    323 grid-institutes:grid.410718.b schema:alternateName Abteilung für Neuropädiatrie, Zentrum für neuromuskuläre Erkrankungen des Kindes- und Jugendalters, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland
    324 schema:name Abteilung für Neuropädiatrie, Zentrum für neuromuskuläre Erkrankungen des Kindes- und Jugendalters, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Deutschland
    325 rdf:type schema:Organization
    326 grid-institutes:grid.411095.8 schema:alternateName Dr. v. Hauner’sche Kinderklinik, Universitätskinderklinik, Ludwig-Maximilians-Universität, München, Deutschland
    327 schema:name Dr. v. Hauner’sche Kinderklinik, Universitätskinderklinik, Ludwig-Maximilians-Universität, München, Deutschland
    328 rdf:type schema:Organization
    329 grid-institutes:grid.411984.1 schema:alternateName Abteilung Neuropädiatrie und Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Göttingen, Göttingen, Deutschland
    330 schema:name Abteilung Neuropädiatrie und Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Göttingen, Göttingen, Deutschland
    331 rdf:type schema:Organization
    332 grid-institutes:grid.4488.0 schema:alternateName Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland
    333 schema:name Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Deutschland
    334 rdf:type schema:Organization
    335 grid-institutes:grid.470032.2 schema:alternateName Abteilung Neuropädiatrie und Sozialpädiatrisches Zentrum, Zentrum für Kinderheilkunde, Universitätsklinikum Bonn, Bonn, Deutschland
    336 schema:name Abteilung Neuropädiatrie und Sozialpädiatrisches Zentrum, Zentrum für Kinderheilkunde, Universitätsklinikum Bonn, Bonn, Deutschland
    337 rdf:type schema:Organization
    338 grid-institutes:grid.488549.c schema:alternateName Abteilung Neuropädiatrie, Entwicklungsneurologie und Sozialpädiatrie, Universitätsklinik für Kinder- und Jugendmedizin, Tübingen, Deutschland
    339 schema:name Abteilung Neuropädiatrie, Entwicklungsneurologie und Sozialpädiatrie, Universitätsklinik für Kinder- und Jugendmedizin, Tübingen, Deutschland
    340 rdf:type schema:Organization
    341 grid-institutes:grid.500030.6 schema:alternateName Klinik für Kinder- und Jugendmedizin, DRK Kliniken Berlin, Berlin, Deutschland
    342 schema:name Klinik für Kinder- und Jugendmedizin, DRK Kliniken Berlin, Berlin, Deutschland
    343 rdf:type schema:Organization
    344 grid-institutes:grid.5252.0 schema:alternateName Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Deutschland
    345 schema:name Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität, München, Deutschland
    346 rdf:type schema:Organization
    347 grid-institutes:grid.5253.1 schema:alternateName Zentrum für Kinder- und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland
    348 schema:name Zentrum für Kinder- und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland
    349 rdf:type schema:Organization
    350 grid-institutes:grid.5570.7 schema:alternateName Abteilung für Neuropädiatrie mit Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Ruhr-Universität Bochum, Bochum, Deutschland
    351 schema:name Abteilung für Neuropädiatrie mit Sozialpädiatrie, Klinik für Kinder- und Jugendmedizin, Ruhr-Universität Bochum, Bochum, Deutschland
    352 rdf:type schema:Organization
    353 grid-institutes:grid.5963.9 schema:alternateName Klinik für Neuropädiatrie und Muskelerkrankungen, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Freiburg, Deutschland
    354 schema:name Klinik für Neuropädiatrie und Muskelerkrankungen, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Freiburg, Deutschland
    355 rdf:type schema:Organization
    356 grid-institutes:grid.6363.0 schema:alternateName Sozialpädiatrisches Zentrum, Charité – Universitätsmedizin Berlin, Berlin, Deutschland
    357 schema:name Sozialpädiatrisches Zentrum, Charité – Universitätsmedizin Berlin, Berlin, Deutschland
    358 rdf:type schema:Organization
    359 grid-institutes:grid.8664.c schema:alternateName Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Gießen, Deutschland
    360 schema:name Abteilung Kinderneurologie, Sozialpädiatrie und Epileptologie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Gießen, Deutschland
    361 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...