Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-09

AUTHORS

Alleene V. Strickland, Maria Schabhüttl, Hans Offenbacher, Matthis Synofzik, Natalie S. Hauser, Michaela Brunner-Krainz, Ursula Gruber-Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael A. Gonzalez, Stephan Züchner, Rebecca Schule, Michael E. Shy, Michaela Auer-Grumbach

ABSTRACT

Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development, and Charcot-Marie-Tooth disease, type 2O. We hypothesized that additional variants could be found in these and novel motoneuron and related diseases. Therefore, we analyzed our database of 1024 whole exome sequencing samples of motoneuron and related diseases for novel single nucleotide variations. We filtered these results for significant variants, which were further screened using segregation analysis in available family members. Analysis revealed six novel, rare, and highly conserved variants. Three of these are likely pathogenic and encompass a broad phenotypic spectrum with distinct disease clusters. Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease. It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways. More... »

PAGES

2124-2134

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-015-7727-2

DOI

http://dx.doi.org/10.1007/s00415-015-7727-2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011772351

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/26100331


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Charcot-Marie-Tooth Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cytoplasmic Dyneins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Motor Neuron Disease", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Motor Neurons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Muscle, Skeletal", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Miami", 
          "id": "https://www.grid.ac/institutes/grid.26790.3a", 
          "name": [
            "Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Strickland", 
        "givenName": "Alleene V.", 
        "id": "sg:person.01050052520.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050052520.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical University of Vienna", 
          "id": "https://www.grid.ac/institutes/grid.22937.3d", 
          "name": [
            "Department of Orthopaedics, Medical University Vienna, W\u00e4hringerg\u00fcrtel 18-20, 1090, Vienna, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schabh\u00fcttl", 
        "givenName": "Maria", 
        "id": "sg:person.01202734553.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202734553.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Neurology, Hospital Knittelfeld, Knittelfeld, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Offenbacher", 
        "givenName": "Hans", 
        "id": "sg:person.0674101462.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674101462.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of T\u00fcbingen", 
          "id": "https://www.grid.ac/institutes/grid.10392.39", 
          "name": [
            "Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany", 
            "German Research Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Synofzik", 
        "givenName": "Matthis", 
        "id": "sg:person.01270305370.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270305370.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital Central California", 
          "id": "https://www.grid.ac/institutes/grid.414129.b", 
          "name": [
            "Department of Medical Genetics, Children\u2019s Hospital of Central California, Madera, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hauser", 
        "givenName": "Natalie S.", 
        "id": "sg:person.01302701503.69", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302701503.69"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical University of Graz", 
          "id": "https://www.grid.ac/institutes/grid.11598.34", 
          "name": [
            "Division of General Pediatrics, Medical University Graz, Graz, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brunner-Krainz", 
        "givenName": "Michaela", 
        "id": "sg:person.01230666254.29", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230666254.29"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical University of Graz", 
          "id": "https://www.grid.ac/institutes/grid.11598.34", 
          "name": [
            "Division of General Pediatrics, Medical University Graz, Graz, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gruber-Sedlmayr", 
        "givenName": "Ursula", 
        "id": "sg:person.01274354253.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274354253.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Iowa", 
          "id": "https://www.grid.ac/institutes/grid.214572.7", 
          "name": [
            "Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moore", 
        "givenName": "Steven A.", 
        "id": "sg:person.01163560106.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163560106.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical University of Vienna", 
          "id": "https://www.grid.ac/institutes/grid.22937.3d", 
          "name": [
            "Department of Orthopaedics, Medical University Vienna, W\u00e4hringerg\u00fcrtel 18-20, 1090, Vienna, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Windhager", 
        "givenName": "Reinhard", 
        "id": "sg:person.01110510443.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110510443.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Universit\u00e4tsklinikum T\u00fcbingen", 
          "id": "https://www.grid.ac/institutes/grid.411544.1", 
          "name": [
            "Magnetic Resonance Research Group, Department of Diagnostic and Interventional Neuroradiology, University Hospital T\u00fcbingen, T\u00fcbingen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bender", 
        "givenName": "Benjamin", 
        "id": "sg:person.01110513221.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110513221.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Washington University in St. Louis", 
          "id": "https://www.grid.ac/institutes/grid.4367.6", 
          "name": [
            "Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, Saint Louis, MO, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Harms", 
        "givenName": "Matthew", 
        "id": "sg:person.0657672333.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657672333.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital of W\u00fcrzburg", 
          "id": "https://www.grid.ac/institutes/grid.411760.5", 
          "name": [
            "Department of Neurology, University Hospital Wuerzburg, W\u00fcrzburg, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Klebe", 
        "givenName": "Stephan", 
        "id": "sg:person.0663624333.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663624333.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of M\u00fcnster", 
          "id": "https://www.grid.ac/institutes/grid.5949.1", 
          "name": [
            "Department of Sleep Medicine and Neuromuscular Disorders, University of Munster, Munster, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Young", 
        "givenName": "Peter", 
        "id": "sg:person.01177535357.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177535357.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Concord Repatriation General Hospital", 
          "id": "https://www.grid.ac/institutes/grid.414685.a", 
          "name": [
            "Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, Australia", 
            "Molecular Medicine Laboratory, Concord Hospital, Sydney, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kennerson", 
        "givenName": "Marina", 
        "id": "sg:person.01027474634.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027474634.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Miami", 
          "id": "https://www.grid.ac/institutes/grid.26790.3a", 
          "name": [
            "Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Garcia", 
        "givenName": "Avencia Sanchez Mejias", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Miami", 
          "id": "https://www.grid.ac/institutes/grid.26790.3a", 
          "name": [
            "Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gonzalez", 
        "givenName": "Michael A.", 
        "id": "sg:person.0630434375.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630434375.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Miami", 
          "id": "https://www.grid.ac/institutes/grid.26790.3a", 
          "name": [
            "Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Z\u00fcchner", 
        "givenName": "Stephan", 
        "id": "sg:person.0644440010.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644440010.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of T\u00fcbingen", 
          "id": "https://www.grid.ac/institutes/grid.10392.39", 
          "name": [
            "Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA", 
            "Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, University of T\u00fcbingen, T\u00fcbingen, Germany", 
            "German Research Center for Neurodegenerative Diseases (DZNE), T\u00fcbingen, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schule", 
        "givenName": "Rebecca", 
        "id": "sg:person.01140737003.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140737003.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Iowa", 
          "id": "https://www.grid.ac/institutes/grid.214572.7", 
          "name": [
            "Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shy", 
        "givenName": "Michael E.", 
        "id": "sg:person.0614006275.78", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614006275.78"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical University of Vienna", 
          "id": "https://www.grid.ac/institutes/grid.22937.3d", 
          "name": [
            "Department of Orthopaedics, Medical University Vienna, W\u00e4hringerg\u00fcrtel 18-20, 1090, Vienna, Austria"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Auer-Grumbach", 
        "givenName": "Michaela", 
        "id": "sg:person.01102242521.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102242521.30"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/humu.22305", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000087108"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2613", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006226843", 
          "https://doi.org/10.1038/ng.2613"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1523/jneurosci.4338-07.2007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007711933"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2003.09.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007926448"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10048-012-0337-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009189862", 
          "https://doi.org/10.1007/s10048-012-0337-6"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/123.8.1612", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010958516"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/01241398-200107000-00018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011339276"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1529-8027.2012.00370.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011849667"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp698", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012031985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m110.178087", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012973897"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1083129", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013686000"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.712", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016232682", 
          "https://doi.org/10.1038/ng.712"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jnnp.2008.167528", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017375825"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1749-8104-5-12", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018997789", 
          "https://doi.org/10.1186/1749-8104-5-12"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.neuro.051508.135722", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020995537"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrn2946", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022076859", 
          "https://doi.org/10.1038/nrn2946"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrn2946", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022076859", 
          "https://doi.org/10.1038/nrn2946"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0805422105", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023244939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.biocel.2013.05.016", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025752874"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1016/s1091-255x(98)80012-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029267223", 
          "https://doi.org/10.1016/s1091-255x(98)80012-7"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awm293", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030591996"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1749-8104-6-26", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032075397", 
          "https://doi.org/10.1186/1749-8104-6-26"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.107524.110", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032096953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1749-8104-7-37", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034121938", 
          "https://doi.org/10.1186/1749-8104-7-37"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jnnp-2013-306777", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037457698"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/aws108", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038443585"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2011.07.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040504654"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmedgenet-2011-100542", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043193421"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22491", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045034333"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2013.04.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046181700"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.expneurol.2012.01.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047556659"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.112.141580", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049438084"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1534/genetics.112.141580", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049438084"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00401-012-1058-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052100667", 
          "https://doi.org/10.1007/s00401-012-1058-5"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000001269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000001269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0000000000001269", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064352685"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3182556c05", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064356919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3182556c05", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064356919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.0b013e3182556c05", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064356919"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2015-09", 
    "datePublishedReg": "2015-09-01", 
    "description": "Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development, and Charcot-Marie-Tooth disease, type 2O. We hypothesized that additional variants could be found in these and novel motoneuron and related diseases. Therefore, we analyzed our database of 1024 whole exome sequencing samples of motoneuron and related diseases for novel single nucleotide variations. We filtered these results for significant variants, which were further screened using segregation analysis in available family members. Analysis revealed six novel, rare, and highly conserved variants. Three of these are likely pathogenic and encompass a broad phenotypic spectrum with distinct disease clusters. Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease. It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways. ", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s00415-015-7727-2", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2409236", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2699462", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2415560", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2699476", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2563137", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2562881", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6188380", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1014525", 
        "issn": [
          "0340-5354", 
          "1432-1459"
        ], 
        "name": "Journal of Neurology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "9", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "262"
      }
    ], 
    "name": "Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1", 
    "pagination": "2124-2134", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "3816fefd33c28514b574ee2345f35762610787dd58bdc3854bb34604e39f79b3"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "26100331"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0423161"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s00415-015-7727-2"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1011772351"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s00415-015-7727-2", 
      "https://app.dimensions.ai/details/publication/pub.1011772351"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T23:24", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8693_00000511.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007%2Fs00415-015-7727-2"
  }
]
 

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/s00415-015-7727-2'

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/s00415-015-7727-2'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00415-015-7727-2'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00415-015-7727-2'


 

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

398 TRIPLES      21 PREDICATES      72 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s00415-015-7727-2 schema:about N0d32ed8c86644a1d8fd765fd1daf44f1
2 N65ca2d4af88b44c78b0dd5d300e30391
3 N697a95f0f4f54671bfe226ebe1038b41
4 N723bc99103a84b1996f7e4f997b4e756
5 Nac304f77708746cca45be379d7d9ce9d
6 Nd433f70c7dc2412c85bb04e712929898
7 Nd9bdd01505a44fbc8ca2f7e547ad86ba
8 Ne430f6e39bc448898806bc2334b37d49
9 Ne99412899e334929b90734ec06c39b4a
10 anzsrc-for:06
11 anzsrc-for:0604
12 schema:author Ne9c2fdcb7bee47e486891b83adbcc9f3
13 schema:citation sg:pub.10.1007/s00401-012-1058-5
14 sg:pub.10.1007/s10048-012-0337-6
15 sg:pub.10.1016/s1091-255x(98)80012-7
16 sg:pub.10.1038/ng.2613
17 sg:pub.10.1038/ng.712
18 sg:pub.10.1038/nrn2946
19 sg:pub.10.1186/1749-8104-5-12
20 sg:pub.10.1186/1749-8104-6-26
21 sg:pub.10.1186/1749-8104-7-37
22 https://doi.org/10.1002/humu.22305
23 https://doi.org/10.1002/humu.22491
24 https://doi.org/10.1016/j.ajhg.2011.07.002
25 https://doi.org/10.1016/j.ajhg.2013.04.018
26 https://doi.org/10.1016/j.biocel.2013.05.016
27 https://doi.org/10.1016/j.expneurol.2012.01.010
28 https://doi.org/10.1016/j.nmd.2003.09.005
29 https://doi.org/10.1073/pnas.0805422105
30 https://doi.org/10.1074/jbc.m110.178087
31 https://doi.org/10.1093/bioinformatics/btp698
32 https://doi.org/10.1093/brain/123.8.1612
33 https://doi.org/10.1093/brain/awm293
34 https://doi.org/10.1093/brain/aws108
35 https://doi.org/10.1097/01241398-200107000-00018
36 https://doi.org/10.1101/gr.107524.110
37 https://doi.org/10.1111/j.1529-8027.2012.00370.x
38 https://doi.org/10.1126/science.1083129
39 https://doi.org/10.1136/jmedgenet-2011-100542
40 https://doi.org/10.1136/jnnp-2013-306777
41 https://doi.org/10.1136/jnnp.2008.167528
42 https://doi.org/10.1146/annurev.neuro.051508.135722
43 https://doi.org/10.1212/wnl.0000000000001269
44 https://doi.org/10.1212/wnl.0b013e3182556c05
45 https://doi.org/10.1523/jneurosci.4338-07.2007
46 https://doi.org/10.1534/genetics.112.141580
47 schema:datePublished 2015-09
48 schema:datePublishedReg 2015-09-01
49 schema:description Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) encodes a necessary subunit of the cytoplasmic dynein complex, which traffics cargo along microtubules. Dominant DYNC1H1 mutations are implicated in neural diseases, including spinal muscular atrophy with lower extremity dominance (SMA-LED), intellectual disability with neuronal migration defects, malformations of cortical development, and Charcot-Marie-Tooth disease, type 2O. We hypothesized that additional variants could be found in these and novel motoneuron and related diseases. Therefore, we analyzed our database of 1024 whole exome sequencing samples of motoneuron and related diseases for novel single nucleotide variations. We filtered these results for significant variants, which were further screened using segregation analysis in available family members. Analysis revealed six novel, rare, and highly conserved variants. Three of these are likely pathogenic and encompass a broad phenotypic spectrum with distinct disease clusters. Our findings suggest that DYNC1H1 variants can cause not only lower, but also upper motor neuron disease. It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways.
50 schema:genre research_article
51 schema:inLanguage en
52 schema:isAccessibleForFree true
53 schema:isPartOf N64e5daab2ffe40b3a8055a46f1a9ab25
54 N9696280daa844e1c806c5fa51b60a5d8
55 sg:journal.1014525
56 schema:name Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
57 schema:pagination 2124-2134
58 schema:productId N877a35a5fc7b4f4bbc7c142925bba3f1
59 N8c94c81d017c4466a915e51951b3e970
60 N9cd5ead184ca4d4b8e58ed25318c2439
61 Nabd2d1a35fcc4b15a71a96d60d77cb2f
62 Ndf90e64de5d44fd2a324241a14262eb6
63 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011772351
64 https://doi.org/10.1007/s00415-015-7727-2
65 schema:sdDatePublished 2019-04-10T23:24
66 schema:sdLicense https://scigraph.springernature.com/explorer/license/
67 schema:sdPublisher N810c05f01dee4876bb36001fb67d74b3
68 schema:url http://link.springer.com/10.1007%2Fs00415-015-7727-2
69 sgo:license sg:explorer/license/
70 sgo:sdDataset articles
71 rdf:type schema:ScholarlyArticle
72 N0739925df26b4fc1bf90ae106736e923 rdf:first sg:person.0674101462.21
73 rdf:rest Nac180ef2c9b6428799a9458d43b508c4
74 N0d32ed8c86644a1d8fd765fd1daf44f1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
75 schema:name DNA Mutational Analysis
76 rdf:type schema:DefinedTerm
77 N1b2ef1e9abca4e85912a44679ec8ab83 rdf:first sg:person.0663624333.89
78 rdf:rest Nf411c25758854b5892ebc6550dd059e1
79 N2b63438c4f4142fb9696833d6dd54b54 rdf:first sg:person.01202734553.72
80 rdf:rest N0739925df26b4fc1bf90ae106736e923
81 N531261dbb00c41b0bee232561f81eb92 rdf:first sg:person.0614006275.78
82 rdf:rest N81806af77df341c7bd25f1ef3284547a
83 N6294cc22964543728799899c322823ad rdf:first sg:person.0630434375.19
84 rdf:rest N83d8802b234941809c0ffe633dfc0ba1
85 N64e5daab2ffe40b3a8055a46f1a9ab25 schema:issueNumber 9
86 rdf:type schema:PublicationIssue
87 N65ca2d4af88b44c78b0dd5d300e30391 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name Phenotype
89 rdf:type schema:DefinedTerm
90 N697a95f0f4f54671bfe226ebe1038b41 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Motor Neurons
92 rdf:type schema:DefinedTerm
93 N723bc99103a84b1996f7e4f997b4e756 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Charcot-Marie-Tooth Disease
95 rdf:type schema:DefinedTerm
96 N770c36c815dc4141838ac6b33d839f33 rdf:first sg:person.0657672333.19
97 rdf:rest N1b2ef1e9abca4e85912a44679ec8ab83
98 N7ca18d2475b046f389284def6a0f0e67 schema:name Department of Neurology, Hospital Knittelfeld, Knittelfeld, Austria
99 rdf:type schema:Organization
100 N7d9154878d2842918e1cfd6c6640fb5d rdf:first sg:person.01163560106.03
101 rdf:rest Nee9d9312a16349acb35e2acccef45857
102 N810c05f01dee4876bb36001fb67d74b3 schema:name Springer Nature - SN SciGraph project
103 rdf:type schema:Organization
104 N81806af77df341c7bd25f1ef3284547a rdf:first sg:person.01102242521.30
105 rdf:rest rdf:nil
106 N83d8802b234941809c0ffe633dfc0ba1 rdf:first sg:person.0644440010.48
107 rdf:rest Na0f6b87439314bdcaee7d0d9172698ae
108 N877a35a5fc7b4f4bbc7c142925bba3f1 schema:name nlm_unique_id
109 schema:value 0423161
110 rdf:type schema:PropertyValue
111 N8c94c81d017c4466a915e51951b3e970 schema:name readcube_id
112 schema:value 3816fefd33c28514b574ee2345f35762610787dd58bdc3854bb34604e39f79b3
113 rdf:type schema:PropertyValue
114 N9696280daa844e1c806c5fa51b60a5d8 schema:volumeNumber 262
115 rdf:type schema:PublicationVolume
116 N9cd5ead184ca4d4b8e58ed25318c2439 schema:name doi
117 schema:value 10.1007/s00415-015-7727-2
118 rdf:type schema:PropertyValue
119 Na0f6b87439314bdcaee7d0d9172698ae rdf:first sg:person.01140737003.52
120 rdf:rest N531261dbb00c41b0bee232561f81eb92
121 Nabd2d1a35fcc4b15a71a96d60d77cb2f schema:name pubmed_id
122 schema:value 26100331
123 rdf:type schema:PropertyValue
124 Nac180ef2c9b6428799a9458d43b508c4 rdf:first sg:person.01270305370.63
125 rdf:rest Nf9d3b5975b5b47b29812f4f8a829bedf
126 Nac304f77708746cca45be379d7d9ce9d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Motor Neuron Disease
128 rdf:type schema:DefinedTerm
129 Nb0452585ca694808a5e284bdca3af1ad rdf:first sg:person.01110513221.48
130 rdf:rest N770c36c815dc4141838ac6b33d839f33
131 Nb75e6dbe5a7d49bb8c422a9c4f622b19 rdf:first Nc042831fdfd643c8a01464e96deccfe5
132 rdf:rest N6294cc22964543728799899c322823ad
133 Nc042831fdfd643c8a01464e96deccfe5 schema:affiliation https://www.grid.ac/institutes/grid.26790.3a
134 schema:familyName Garcia
135 schema:givenName Avencia Sanchez Mejias
136 rdf:type schema:Person
137 Nca74bd22156c472cb8c623a425242b57 rdf:first sg:person.01230666254.29
138 rdf:rest Nf7910bd219b64bb4b301408c5dbfc776
139 Nd433f70c7dc2412c85bb04e712929898 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
140 schema:name Cytoplasmic Dyneins
141 rdf:type schema:DefinedTerm
142 Nd9bdd01505a44fbc8ca2f7e547ad86ba schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Muscle, Skeletal
144 rdf:type schema:DefinedTerm
145 Ndf90e64de5d44fd2a324241a14262eb6 schema:name dimensions_id
146 schema:value pub.1011772351
147 rdf:type schema:PropertyValue
148 Ne430f6e39bc448898806bc2334b37d49 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Mutation
150 rdf:type schema:DefinedTerm
151 Ne99412899e334929b90734ec06c39b4a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Humans
153 rdf:type schema:DefinedTerm
154 Ne9c2fdcb7bee47e486891b83adbcc9f3 rdf:first sg:person.01050052520.27
155 rdf:rest N2b63438c4f4142fb9696833d6dd54b54
156 Nee9d9312a16349acb35e2acccef45857 rdf:first sg:person.01110510443.82
157 rdf:rest Nb0452585ca694808a5e284bdca3af1ad
158 Nf411c25758854b5892ebc6550dd059e1 rdf:first sg:person.01177535357.42
159 rdf:rest Nf7cac2e964ae483db6a46001277f2111
160 Nf7910bd219b64bb4b301408c5dbfc776 rdf:first sg:person.01274354253.92
161 rdf:rest N7d9154878d2842918e1cfd6c6640fb5d
162 Nf7cac2e964ae483db6a46001277f2111 rdf:first sg:person.01027474634.40
163 rdf:rest Nb75e6dbe5a7d49bb8c422a9c4f622b19
164 Nf9d3b5975b5b47b29812f4f8a829bedf rdf:first sg:person.01302701503.69
165 rdf:rest Nca74bd22156c472cb8c623a425242b57
166 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
167 schema:name Biological Sciences
168 rdf:type schema:DefinedTerm
169 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
170 schema:name Genetics
171 rdf:type schema:DefinedTerm
172 sg:grant.2409236 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
173 rdf:type schema:MonetaryGrant
174 sg:grant.2415560 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
175 rdf:type schema:MonetaryGrant
176 sg:grant.2562881 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
177 rdf:type schema:MonetaryGrant
178 sg:grant.2563137 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
179 rdf:type schema:MonetaryGrant
180 sg:grant.2699462 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
181 rdf:type schema:MonetaryGrant
182 sg:grant.2699476 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
183 rdf:type schema:MonetaryGrant
184 sg:grant.6188380 http://pending.schema.org/fundedItem sg:pub.10.1007/s00415-015-7727-2
185 rdf:type schema:MonetaryGrant
186 sg:journal.1014525 schema:issn 0340-5354
187 1432-1459
188 schema:name Journal of Neurology
189 rdf:type schema:Periodical
190 sg:person.01027474634.40 schema:affiliation https://www.grid.ac/institutes/grid.414685.a
191 schema:familyName Kennerson
192 schema:givenName Marina
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027474634.40
194 rdf:type schema:Person
195 sg:person.01050052520.27 schema:affiliation https://www.grid.ac/institutes/grid.26790.3a
196 schema:familyName Strickland
197 schema:givenName Alleene V.
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050052520.27
199 rdf:type schema:Person
200 sg:person.01102242521.30 schema:affiliation https://www.grid.ac/institutes/grid.22937.3d
201 schema:familyName Auer-Grumbach
202 schema:givenName Michaela
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01102242521.30
204 rdf:type schema:Person
205 sg:person.01110510443.82 schema:affiliation https://www.grid.ac/institutes/grid.22937.3d
206 schema:familyName Windhager
207 schema:givenName Reinhard
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110510443.82
209 rdf:type schema:Person
210 sg:person.01110513221.48 schema:affiliation https://www.grid.ac/institutes/grid.411544.1
211 schema:familyName Bender
212 schema:givenName Benjamin
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01110513221.48
214 rdf:type schema:Person
215 sg:person.01140737003.52 schema:affiliation https://www.grid.ac/institutes/grid.10392.39
216 schema:familyName Schule
217 schema:givenName Rebecca
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140737003.52
219 rdf:type schema:Person
220 sg:person.01163560106.03 schema:affiliation https://www.grid.ac/institutes/grid.214572.7
221 schema:familyName Moore
222 schema:givenName Steven A.
223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163560106.03
224 rdf:type schema:Person
225 sg:person.01177535357.42 schema:affiliation https://www.grid.ac/institutes/grid.5949.1
226 schema:familyName Young
227 schema:givenName Peter
228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177535357.42
229 rdf:type schema:Person
230 sg:person.01202734553.72 schema:affiliation https://www.grid.ac/institutes/grid.22937.3d
231 schema:familyName Schabhüttl
232 schema:givenName Maria
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202734553.72
234 rdf:type schema:Person
235 sg:person.01230666254.29 schema:affiliation https://www.grid.ac/institutes/grid.11598.34
236 schema:familyName Brunner-Krainz
237 schema:givenName Michaela
238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01230666254.29
239 rdf:type schema:Person
240 sg:person.01270305370.63 schema:affiliation https://www.grid.ac/institutes/grid.10392.39
241 schema:familyName Synofzik
242 schema:givenName Matthis
243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01270305370.63
244 rdf:type schema:Person
245 sg:person.01274354253.92 schema:affiliation https://www.grid.ac/institutes/grid.11598.34
246 schema:familyName Gruber-Sedlmayr
247 schema:givenName Ursula
248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274354253.92
249 rdf:type schema:Person
250 sg:person.01302701503.69 schema:affiliation https://www.grid.ac/institutes/grid.414129.b
251 schema:familyName Hauser
252 schema:givenName Natalie S.
253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302701503.69
254 rdf:type schema:Person
255 sg:person.0614006275.78 schema:affiliation https://www.grid.ac/institutes/grid.214572.7
256 schema:familyName Shy
257 schema:givenName Michael E.
258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614006275.78
259 rdf:type schema:Person
260 sg:person.0630434375.19 schema:affiliation https://www.grid.ac/institutes/grid.26790.3a
261 schema:familyName Gonzalez
262 schema:givenName Michael A.
263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630434375.19
264 rdf:type schema:Person
265 sg:person.0644440010.48 schema:affiliation https://www.grid.ac/institutes/grid.26790.3a
266 schema:familyName Züchner
267 schema:givenName Stephan
268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0644440010.48
269 rdf:type schema:Person
270 sg:person.0657672333.19 schema:affiliation https://www.grid.ac/institutes/grid.4367.6
271 schema:familyName Harms
272 schema:givenName Matthew
273 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657672333.19
274 rdf:type schema:Person
275 sg:person.0663624333.89 schema:affiliation https://www.grid.ac/institutes/grid.411760.5
276 schema:familyName Klebe
277 schema:givenName Stephan
278 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663624333.89
279 rdf:type schema:Person
280 sg:person.0674101462.21 schema:affiliation N7ca18d2475b046f389284def6a0f0e67
281 schema:familyName Offenbacher
282 schema:givenName Hans
283 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0674101462.21
284 rdf:type schema:Person
285 sg:pub.10.1007/s00401-012-1058-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052100667
286 https://doi.org/10.1007/s00401-012-1058-5
287 rdf:type schema:CreativeWork
288 sg:pub.10.1007/s10048-012-0337-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009189862
289 https://doi.org/10.1007/s10048-012-0337-6
290 rdf:type schema:CreativeWork
291 sg:pub.10.1016/s1091-255x(98)80012-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029267223
292 https://doi.org/10.1016/s1091-255x(98)80012-7
293 rdf:type schema:CreativeWork
294 sg:pub.10.1038/ng.2613 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006226843
295 https://doi.org/10.1038/ng.2613
296 rdf:type schema:CreativeWork
297 sg:pub.10.1038/ng.712 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016232682
298 https://doi.org/10.1038/ng.712
299 rdf:type schema:CreativeWork
300 sg:pub.10.1038/nrn2946 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022076859
301 https://doi.org/10.1038/nrn2946
302 rdf:type schema:CreativeWork
303 sg:pub.10.1186/1749-8104-5-12 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018997789
304 https://doi.org/10.1186/1749-8104-5-12
305 rdf:type schema:CreativeWork
306 sg:pub.10.1186/1749-8104-6-26 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032075397
307 https://doi.org/10.1186/1749-8104-6-26
308 rdf:type schema:CreativeWork
309 sg:pub.10.1186/1749-8104-7-37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034121938
310 https://doi.org/10.1186/1749-8104-7-37
311 rdf:type schema:CreativeWork
312 https://doi.org/10.1002/humu.22305 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000087108
313 rdf:type schema:CreativeWork
314 https://doi.org/10.1002/humu.22491 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045034333
315 rdf:type schema:CreativeWork
316 https://doi.org/10.1016/j.ajhg.2011.07.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040504654
317 rdf:type schema:CreativeWork
318 https://doi.org/10.1016/j.ajhg.2013.04.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046181700
319 rdf:type schema:CreativeWork
320 https://doi.org/10.1016/j.biocel.2013.05.016 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025752874
321 rdf:type schema:CreativeWork
322 https://doi.org/10.1016/j.expneurol.2012.01.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047556659
323 rdf:type schema:CreativeWork
324 https://doi.org/10.1016/j.nmd.2003.09.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007926448
325 rdf:type schema:CreativeWork
326 https://doi.org/10.1073/pnas.0805422105 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023244939
327 rdf:type schema:CreativeWork
328 https://doi.org/10.1074/jbc.m110.178087 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012973897
329 rdf:type schema:CreativeWork
330 https://doi.org/10.1093/bioinformatics/btp698 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012031985
331 rdf:type schema:CreativeWork
332 https://doi.org/10.1093/brain/123.8.1612 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010958516
333 rdf:type schema:CreativeWork
334 https://doi.org/10.1093/brain/awm293 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030591996
335 rdf:type schema:CreativeWork
336 https://doi.org/10.1093/brain/aws108 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038443585
337 rdf:type schema:CreativeWork
338 https://doi.org/10.1097/01241398-200107000-00018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011339276
339 rdf:type schema:CreativeWork
340 https://doi.org/10.1101/gr.107524.110 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032096953
341 rdf:type schema:CreativeWork
342 https://doi.org/10.1111/j.1529-8027.2012.00370.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1011849667
343 rdf:type schema:CreativeWork
344 https://doi.org/10.1126/science.1083129 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013686000
345 rdf:type schema:CreativeWork
346 https://doi.org/10.1136/jmedgenet-2011-100542 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043193421
347 rdf:type schema:CreativeWork
348 https://doi.org/10.1136/jnnp-2013-306777 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037457698
349 rdf:type schema:CreativeWork
350 https://doi.org/10.1136/jnnp.2008.167528 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017375825
351 rdf:type schema:CreativeWork
352 https://doi.org/10.1146/annurev.neuro.051508.135722 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020995537
353 rdf:type schema:CreativeWork
354 https://doi.org/10.1212/wnl.0000000000001269 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064352685
355 rdf:type schema:CreativeWork
356 https://doi.org/10.1212/wnl.0b013e3182556c05 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064356919
357 rdf:type schema:CreativeWork
358 https://doi.org/10.1523/jneurosci.4338-07.2007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007711933
359 rdf:type schema:CreativeWork
360 https://doi.org/10.1534/genetics.112.141580 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049438084
361 rdf:type schema:CreativeWork
362 https://www.grid.ac/institutes/grid.10392.39 schema:alternateName University of Tübingen
363 schema:name Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA
364 Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany
365 German Research Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany
366 rdf:type schema:Organization
367 https://www.grid.ac/institutes/grid.11598.34 schema:alternateName Medical University of Graz
368 schema:name Division of General Pediatrics, Medical University Graz, Graz, Austria
369 rdf:type schema:Organization
370 https://www.grid.ac/institutes/grid.214572.7 schema:alternateName University of Iowa
371 schema:name Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
372 Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA
373 rdf:type schema:Organization
374 https://www.grid.ac/institutes/grid.22937.3d schema:alternateName Medical University of Vienna
375 schema:name Department of Orthopaedics, Medical University Vienna, Währingergürtel 18-20, 1090, Vienna, Austria
376 rdf:type schema:Organization
377 https://www.grid.ac/institutes/grid.26790.3a schema:alternateName University of Miami
378 schema:name Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA
379 rdf:type schema:Organization
380 https://www.grid.ac/institutes/grid.411544.1 schema:alternateName Universitätsklinikum Tübingen
381 schema:name Magnetic Resonance Research Group, Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, Tübingen, Germany
382 rdf:type schema:Organization
383 https://www.grid.ac/institutes/grid.411760.5 schema:alternateName University Hospital of Würzburg
384 schema:name Department of Neurology, University Hospital Wuerzburg, Würzburg, Germany
385 rdf:type schema:Organization
386 https://www.grid.ac/institutes/grid.414129.b schema:alternateName Children's Hospital Central California
387 schema:name Department of Medical Genetics, Children’s Hospital of Central California, Madera, CA, USA
388 rdf:type schema:Organization
389 https://www.grid.ac/institutes/grid.414685.a schema:alternateName Concord Repatriation General Hospital
390 schema:name Molecular Medicine Laboratory, Concord Hospital, Sydney, Australia
391 Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, Australia
392 rdf:type schema:Organization
393 https://www.grid.ac/institutes/grid.4367.6 schema:alternateName Washington University in St. Louis
394 schema:name Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, Saint Louis, MO, USA
395 rdf:type schema:Organization
396 https://www.grid.ac/institutes/grid.5949.1 schema:alternateName University of Münster
397 schema:name Department of Sleep Medicine and Neuromuscular Disorders, University of Munster, Munster, Germany
398 rdf:type schema:Organization
 




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


...