Trinucleotide repeat length instability and age of onset in Huntington's disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1993-08

AUTHORS

M. Duyao, C. Ambrose, R. Myers, A. Novelletto, F. Persichetti, M. Frontali, S. Folstein, C. Ross, M. Franz, M. Abbott, J. Gray, P. Conneally, A. Young, J. Penney, Z. Hollingsworth, I. Shoulson, A. Lazzarini, A. Falek, W. Koroshetz, D. Sax, E. Bird, J. Vonsattel, E. Bonilla, J. Alvir, J. Bickham Conde, J.-H. Cha, L. Dure, F. Gomez, M. Ramos, J. Sanchez-Ramos, S. Snodgrass, M. de Young, N. Wexler, C. Moscowitz, G. Penchaszadeh, H. MacFarlane, M. Anderson, B. Jenkins, J. Srinidhi, G. Barnes, J. Gusella, M. MacDonald

ABSTRACT

The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37–86 repeat units, whereas normal chromosomes displayed 11–34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis. More... »

PAGES

387-392

Journal

TITLE

Nature Genetics

ISSUE

4

VOLUME

4

Author Affiliations

  • Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA
  • Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA
  • Department of Biology, University of Rome “Tor Vergata”, Rome, Italy
  • Instituto di Medicina Sperimentale, CNR, Rome, Italy
  • Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA
  • Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA
  • Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA
  • Department of Neurology, University of Rochester Medical Center, 14642, Rochester, New York, USA
  • Department of Neurology, Robert Wood Johnson Medical School, 08903, New Brunswick, New Jersey, USA
  • Department of Psychiatry, Emory University School of Medicine, 30306, Atlanta, Georgia, USA
  • Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA
  • Universidad de Zulia, Maracaibo, Venezuela
  • Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA
  • Baylor University College of Medicine, 77009, Houston, Texas, USA
  • Neuroscience Laboratory, Kennedy Kreiger Institute, 21205, Baltimore, Maryland, USA
  • Aguirre 621-7A, Capital 1414, Buenos Aires, Argentina
  • Servicio de Genetica, Hospital Virgen del Camino, 31008, Pamplona, Spain
  • Department of Neurology, University of Miami, 33136, Miami, Florida, USA
  • Pediatric Neurology, University of Mississippi Medical Center, 39216, Jackson, Mississippi, USA
  • Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA
  • Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts, USA
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng0893-387

    DOI

    http://dx.doi.org/10.1038/ng0893-387

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1048577444

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8401587


    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/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "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"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adult", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Age Factors", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Carrier Screening", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Linkage", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Huntington Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Linkage Disequilibrium", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Middle Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Pedigree", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Repetitive Sequences, Nucleic Acid", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Spermatozoa", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Duyao", 
            "givenName": "M.", 
            "id": "sg:person.0755255635.46", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755255635.46"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ambrose", 
            "givenName": "C.", 
            "id": "sg:person.0723021606.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723021606.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.189504.1", 
              "name": [
                "Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Myers", 
            "givenName": "R.", 
            "id": "sg:person.010442405757.16", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010442405757.16"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biology, University of Rome \u201cTor Vergata\u201d, Rome, Italy", 
              "id": "http://www.grid.ac/institutes/grid.6530.0", 
              "name": [
                "Department of Biology, University of Rome \u201cTor Vergata\u201d, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Novelletto", 
            "givenName": "A.", 
            "id": "sg:person.01165337752.06", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165337752.06"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Biology, University of Rome \u201cTor Vergata\u201d, Rome, Italy", 
              "id": "http://www.grid.ac/institutes/grid.6530.0", 
              "name": [
                "Department of Biology, University of Rome \u201cTor Vergata\u201d, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Persichetti", 
            "givenName": "F.", 
            "id": "sg:person.01025733334.76", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025733334.76"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Instituto di Medicina Sperimentale, CNR, Rome, Italy", 
              "id": "http://www.grid.ac/institutes/grid.5326.2", 
              "name": [
                "Instituto di Medicina Sperimentale, CNR, Rome, Italy"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Frontali", 
            "givenName": "M.", 
            "id": "sg:person.01146206576.22", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146206576.22"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.21107.35", 
              "name": [
                "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Folstein", 
            "givenName": "S.", 
            "id": "sg:person.01071033744.61", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071033744.61"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.21107.35", 
              "name": [
                "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ross", 
            "givenName": "C.", 
            "id": "sg:person.015704230517.84", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015704230517.84"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.21107.35", 
              "name": [
                "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Franz", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.21107.35", 
              "name": [
                "Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Abbott", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA", 
              "id": "http://www.grid.ac/institutes/grid.411570.6", 
              "name": [
                "Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gray", 
            "givenName": "J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA", 
              "id": "http://www.grid.ac/institutes/grid.411570.6", 
              "name": [
                "Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Conneally", 
            "givenName": "P.", 
            "id": "sg:person.0634332240.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634332240.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Young", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Penney", 
            "givenName": "J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hollingsworth", 
            "givenName": "Z.", 
            "id": "sg:person.01063341351.60", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063341351.60"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, University of Rochester Medical Center, 14642, Rochester, New York, USA", 
              "id": "http://www.grid.ac/institutes/grid.412750.5", 
              "name": [
                "Department of Neurology, University of Rochester Medical Center, 14642, Rochester, New York, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Shoulson", 
            "givenName": "I.", 
            "id": "sg:person.0743720436.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743720436.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Robert Wood Johnson Medical School, 08903, New Brunswick, New Jersey, USA", 
              "id": "http://www.grid.ac/institutes/grid.430387.b", 
              "name": [
                "Department of Neurology, Robert Wood Johnson Medical School, 08903, New Brunswick, New Jersey, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lazzarini", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Psychiatry, Emory University School of Medicine, 30306, Atlanta, Georgia, USA", 
              "id": "http://www.grid.ac/institutes/grid.189967.8", 
              "name": [
                "Department of Psychiatry, Emory University School of Medicine, 30306, Atlanta, Georgia, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Falek", 
            "givenName": "A.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Koroshetz", 
            "givenName": "W.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.189504.1", 
              "name": [
                "Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sax", 
            "givenName": "D.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.38142.3c", 
              "name": [
                "Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bird", 
            "givenName": "E.", 
            "id": "sg:person.0773075455.78", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773075455.78"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.38142.3c", 
              "name": [
                "Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vonsattel", 
            "givenName": "J.", 
            "id": "sg:person.015126147177.10", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015126147177.10"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Universidad de Zulia, Maracaibo, Venezuela", 
              "id": "http://www.grid.ac/institutes/grid.411267.7", 
              "name": [
                "Universidad de Zulia, Maracaibo, Venezuela"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bonilla", 
            "givenName": "E.", 
            "id": "sg:person.01107376745.65", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107376745.65"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA", 
              "id": "http://www.grid.ac/institutes/grid.273206.2", 
              "name": [
                "Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Alvir", 
            "givenName": "J.", 
            "id": "sg:person.014136347237.18", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014136347237.18"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Baylor University College of Medicine, 77009, Houston, Texas, USA", 
              "id": "http://www.grid.ac/institutes/grid.252890.4", 
              "name": [
                "Baylor University College of Medicine, 77009, Houston, Texas, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Bickham Conde", 
            "givenName": "J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Neuroscience Laboratory, Kennedy Kreiger Institute, 21205, Baltimore, Maryland, USA", 
              "id": "http://www.grid.ac/institutes/grid.240023.7", 
              "name": [
                "Neuroscience Laboratory, Kennedy Kreiger Institute, 21205, Baltimore, Maryland, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cha", 
            "givenName": "J.-H.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dure", 
            "givenName": "L.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Aguirre 621-7A, Capital 1414, Buenos Aires, Argentina", 
              "id": "http://www.grid.ac/institutes/None", 
              "name": [
                "Aguirre 621-7A, Capital 1414, Buenos Aires, Argentina"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gomez", 
            "givenName": "F.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Servicio de Genetica, Hospital Virgen del Camino, 31008, Pamplona, Spain", 
              "id": "http://www.grid.ac/institutes/grid.413524.5", 
              "name": [
                "Servicio de Genetica, Hospital Virgen del Camino, 31008, Pamplona, Spain"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ramos", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Neurology, University of Miami, 33136, Miami, Florida, USA", 
              "id": "http://www.grid.ac/institutes/grid.26790.3a", 
              "name": [
                "Department of Neurology, University of Miami, 33136, Miami, Florida, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sanchez-Ramos", 
            "givenName": "J.", 
            "id": "sg:person.01235224147.42", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235224147.42"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Pediatric Neurology, University of Mississippi Medical Center, 39216, Jackson, Mississippi, USA", 
              "id": "http://www.grid.ac/institutes/grid.410721.1", 
              "name": [
                "Pediatric Neurology, University of Mississippi Medical Center, 39216, Jackson, Mississippi, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Snodgrass", 
            "givenName": "S.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA", 
              "id": "http://www.grid.ac/institutes/grid.273206.2", 
              "name": [
                "Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Young", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.453769.a", 
              "name": [
                "Departments of Neurology and Psychiatry, College of Physicians and Surgeons, Columbia University, 10032, New York", 
                "Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Wexler", 
            "givenName": "N.", 
            "id": "sg:person.0671611030.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671611030.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.453769.a", 
              "name": [
                "Departments of Neurology and Psychiatry, College of Physicians and Surgeons, Columbia University, 10032, New York", 
                "Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Moscowitz", 
            "givenName": "C.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA", 
              "id": "http://www.grid.ac/institutes/grid.453769.a", 
              "name": [
                "Departments of Neurology and Psychiatry, College of Physicians and Surgeons, Columbia University, 10032, New York", 
                "Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Penchaszadeh", 
            "givenName": "G.", 
            "id": "sg:person.01214160657.05", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214160657.05"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "MacFarlane", 
            "givenName": "H.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Anderson", 
            "givenName": "M.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Jenkins", 
            "givenName": "B.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Srinidhi", 
            "givenName": "J.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Barnes", 
            "givenName": "G.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.38142.3c", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
                "Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gusella", 
            "givenName": "J.", 
            "id": "sg:person.012250725157.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012250725157.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA", 
              "id": "http://www.grid.ac/institutes/grid.32224.35", 
              "name": [
                "Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA"
              ], 
              "type": "Organization"
            }, 
            "familyName": "MacDonald", 
            "givenName": "M.", 
            "id": "sg:person.01333046672.39", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333046672.39"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "sg:pub.10.1038/ng0793-221", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024789892", 
              "https://doi.org/10.1038/ng0793-221"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/355547a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025773144", 
              "https://doi.org/10.1038/355547a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0692-192", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012530665", 
              "https://doi.org/10.1038/ng0692-192"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/326194a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012101430", 
              "https://doi.org/10.1038/326194a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0793-295", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013454954", 
              "https://doi.org/10.1038/ng0793-295"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng0592-99", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051122816", 
              "https://doi.org/10.1038/ng0592-99"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/355548a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039513377", 
              "https://doi.org/10.1038/355548a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/355545a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1030097475", 
              "https://doi.org/10.1038/355545a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf02619631", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007374959", 
              "https://doi.org/10.1007/bf02619631"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/352077a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039878884", 
              "https://doi.org/10.1038/352077a0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ng1292-301", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1053577537", 
              "https://doi.org/10.1038/ng1292-301"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/306234a0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008727690", 
              "https://doi.org/10.1038/306234a0"
            ], 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "1993-08", 
        "datePublishedReg": "1993-08-01", 
        "description": "The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37\u201386 repeat units, whereas normal chromosomes displayed 11\u201334 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.", 
        "genre": "article", 
        "id": "sg:pub.10.1038/ng0893-387", 
        "isAccessibleForFree": false, 
        "isFundedItemOf": [
          {
            "id": "sg:grant.2437255", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2437256", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2441042", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2441040", 
            "type": "MonetaryGrant"
          }, 
          {
            "id": "sg:grant.2554730", 
            "type": "MonetaryGrant"
          }
        ], 
        "isPartOf": [
          {
            "id": "sg:journal.1103138", 
            "issn": [
              "1061-4036", 
              "1546-1718"
            ], 
            "name": "Nature Genetics", 
            "publisher": "Springer Nature", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "4", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "4"
          }
        ], 
        "keywords": [
          "disease genes", 
          "unstable trinucleotide repeats", 
          "disease families", 
          "meiotic transmission", 
          "individual repeats", 
          "Huntington's disease gene", 
          "repeat instability", 
          "repeat distribution", 
          "trinucleotide repeats", 
          "repeats", 
          "paternal transmission", 
          "sperm DNA", 
          "chromosomes", 
          "repeat units", 
          "normal chromosomes", 
          "repeat length", 
          "repeat length instability", 
          "HD chromosomes", 
          "presymptomatic diagnosis", 
          "Huntington's disease", 
          "genes", 
          "family", 
          "profound implications", 
          "length instability", 
          "DNA", 
          "targeting", 
          "spermatogenesis", 
          "members", 
          "initial observations", 
          "large increase", 
          "length", 
          "disease", 
          "age of onset", 
          "increase", 
          "transmission", 
          "instability", 
          "distribution", 
          "analysis", 
          "observations", 
          "onset", 
          "decrease", 
          "size", 
          "source", 
          "implications", 
          "disorders", 
          "units", 
          "particular source", 
          "age", 
          "diagnosis", 
          "Huntington's disease families"
        ], 
        "name": "Trinucleotide repeat length instability and age of onset in Huntington's disease", 
        "pagination": "387-392", 
        "productId": [
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1048577444"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1038/ng0893-387"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "8401587"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1038/ng0893-387", 
          "https://app.dimensions.ai/details/publication/pub.1048577444"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2022-12-01T06:20", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/article/article_232.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://doi.org/10.1038/ng0893-387"
      }
    ]
     

    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.10.1038/ng0893-387'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng0893-387'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng0893-387'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng0893-387'


     

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

    546 TRIPLES      21 PREDICATES      101 URIs      81 LITERALS      20 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1038/ng0893-387 schema:about N049ed9eae1764fc0b26433dcade4fe89
    2 N294407f5ffcf476ab680e165f335b3ff
    3 N38d2e48cd93d4eaf8e2983cc3bf89042
    4 N3907f4e972a044b7a69468b84e9a6c11
    5 N540a2b42f2bb4878ae5f7a2cb2eb18c7
    6 N711484fea61b4f5aad61415ccefc2321
    7 N7b4220cd53404b1cb95388a60bfa8d24
    8 N7fa5d8b086f64d62aa0aeec9652e4418
    9 N983c8e25dda64b93affd75d041398f1a
    10 Na1fcb13eab914ec98221502e3f68574e
    11 Nbf7472644514420dba3c73cb88c8210b
    12 Ned5532b39e5f4d9a8c7e94d8f94828a3
    13 Nfb30f11851f64bc89b3021907a859da0
    14 anzsrc-for:06
    15 anzsrc-for:0604
    16 schema:author Nc4b6953bd0504781b2adbdddf43c8b32
    17 schema:citation sg:pub.10.1007/bf02619631
    18 sg:pub.10.1038/306234a0
    19 sg:pub.10.1038/326194a0
    20 sg:pub.10.1038/352077a0
    21 sg:pub.10.1038/355545a0
    22 sg:pub.10.1038/355547a0
    23 sg:pub.10.1038/355548a0
    24 sg:pub.10.1038/ng0592-99
    25 sg:pub.10.1038/ng0692-192
    26 sg:pub.10.1038/ng0793-221
    27 sg:pub.10.1038/ng0793-295
    28 sg:pub.10.1038/ng1292-301
    29 schema:datePublished 1993-08
    30 schema:datePublishedReg 1993-08-01
    31 schema:description The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37–86 repeat units, whereas normal chromosomes displayed 11–34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.
    32 schema:genre article
    33 schema:isAccessibleForFree false
    34 schema:isPartOf N61c9aec341554888842e149c365a4c7c
    35 Ndabf94c7f86448ed83e0e3259dd18167
    36 sg:journal.1103138
    37 schema:keywords DNA
    38 HD chromosomes
    39 Huntington's disease
    40 Huntington's disease families
    41 Huntington's disease gene
    42 age
    43 age of onset
    44 analysis
    45 chromosomes
    46 decrease
    47 diagnosis
    48 disease
    49 disease families
    50 disease genes
    51 disorders
    52 distribution
    53 family
    54 genes
    55 implications
    56 increase
    57 individual repeats
    58 initial observations
    59 instability
    60 large increase
    61 length
    62 length instability
    63 meiotic transmission
    64 members
    65 normal chromosomes
    66 observations
    67 onset
    68 particular source
    69 paternal transmission
    70 presymptomatic diagnosis
    71 profound implications
    72 repeat distribution
    73 repeat instability
    74 repeat length
    75 repeat length instability
    76 repeat units
    77 repeats
    78 size
    79 source
    80 sperm DNA
    81 spermatogenesis
    82 targeting
    83 transmission
    84 trinucleotide repeats
    85 units
    86 unstable trinucleotide repeats
    87 schema:name Trinucleotide repeat length instability and age of onset in Huntington's disease
    88 schema:pagination 387-392
    89 schema:productId N5caacc7552cc48a285dcd8933a0e3fbd
    90 Naa6a463bd6e4488bb502492c52202a04
    91 Ne64b40b318f44b81bf7ca23c3d6e9c8b
    92 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048577444
    93 https://doi.org/10.1038/ng0893-387
    94 schema:sdDatePublished 2022-12-01T06:20
    95 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    96 schema:sdPublisher N099816b143e14a8aaea3fd8e63c8634a
    97 schema:url https://doi.org/10.1038/ng0893-387
    98 sgo:license sg:explorer/license/
    99 sgo:sdDataset articles
    100 rdf:type schema:ScholarlyArticle
    101 N00ee3fa463e243ed92f454214c3eba56 schema:affiliation grid-institutes:grid.273206.2
    102 schema:familyName de Young
    103 schema:givenName M.
    104 rdf:type schema:Person
    105 N049ed9eae1764fc0b26433dcade4fe89 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    106 schema:name Genetic Carrier Screening
    107 rdf:type schema:DefinedTerm
    108 N099816b143e14a8aaea3fd8e63c8634a schema:name Springer Nature - SN SciGraph project
    109 rdf:type schema:Organization
    110 N0a3c94c3294b4c4eb43834da7b2dfc72 rdf:first N133979b320f6412babc07eb5e98f3c3d
    111 rdf:rest N5ed490642b7c4b28ac9656e80d4f80ba
    112 N0cc2a0722f4b4725a65cf39288fda904 rdf:first Nec3269312c814ba2a933ffd0811c950b
    113 rdf:rest Nccc3668981a24ea287ba3d7e6ed26645
    114 N0d5eb1ab291e41ee8270f9f3dc329da4 rdf:first sg:person.0743720436.41
    115 rdf:rest N44f04204053e40a0bf789f4ed192ddfd
    116 N0df13e13841f43baa7ee92a6f352758e rdf:first N0e1368b9932e487a96fea2160e213207
    117 rdf:rest Nb4082a0ca3984bb09cfa522039eb921b
    118 N0e1368b9932e487a96fea2160e213207 schema:affiliation grid-institutes:grid.32224.35
    119 schema:familyName Srinidhi
    120 schema:givenName J.
    121 rdf:type schema:Person
    122 N133979b320f6412babc07eb5e98f3c3d schema:affiliation grid-institutes:grid.413524.5
    123 schema:familyName Ramos
    124 schema:givenName M.
    125 rdf:type schema:Person
    126 N16d79b5d66d942e3b9fbf2454e00bb1b schema:affiliation grid-institutes:grid.430387.b
    127 schema:familyName Lazzarini
    128 schema:givenName A.
    129 rdf:type schema:Person
    130 N1dcc877105eb49f0aa2da9b6a8fbf41a rdf:first sg:person.0671611030.63
    131 rdf:rest N8dd88101b6e94f6ebe4e8194dd11fcf2
    132 N200c826cfcae4a9292f35f9d5ecbe71e rdf:first Nab52ff23db0f428fa50ba1beead542d9
    133 rdf:rest N4193ed64bc9a4bfe865be8ab2ada8e34
    134 N25fc6cc7256f44cbaeebfd4cf0f3a891 rdf:first sg:person.01333046672.39
    135 rdf:rest rdf:nil
    136 N294407f5ffcf476ab680e165f335b3ff schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    137 schema:name Adult
    138 rdf:type schema:DefinedTerm
    139 N2a1819c9d9e6478abf2ef2e8094a9729 schema:affiliation grid-institutes:grid.410721.1
    140 schema:familyName Snodgrass
    141 schema:givenName S.
    142 rdf:type schema:Person
    143 N38d2e48cd93d4eaf8e2983cc3bf89042 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    144 schema:name Pedigree
    145 rdf:type schema:DefinedTerm
    146 N3907f4e972a044b7a69468b84e9a6c11 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    147 schema:name Female
    148 rdf:type schema:DefinedTerm
    149 N3e99ebb20cbc402493377f230ac9f32b rdf:first Na861c11f2f12428f94a7da1eaa68b80d
    150 rdf:rest N0df13e13841f43baa7ee92a6f352758e
    151 N4193ed64bc9a4bfe865be8ab2ada8e34 rdf:first Nb14756f6b63044dbb303010318b9cde9
    152 rdf:rest N7885f57d0ab54f64afaeb75b0b26c947
    153 N44f04204053e40a0bf789f4ed192ddfd rdf:first N16d79b5d66d942e3b9fbf2454e00bb1b
    154 rdf:rest Nde7172b19abd41eebb10e83d8e6c03fb
    155 N483f68f0d12240b59b629ff70108758e schema:affiliation grid-institutes:grid.21107.35
    156 schema:familyName Franz
    157 schema:givenName M.
    158 rdf:type schema:Person
    159 N4f135ee5ef884a1393efcee641b1323b schema:affiliation grid-institutes:grid.32224.35
    160 schema:familyName Young
    161 schema:givenName A.
    162 rdf:type schema:Person
    163 N511b1b9318c44820b8a9b7c520fe7451 rdf:first sg:person.01214160657.05
    164 rdf:rest N51c67678c56148b2868b9a7f9dfdde1c
    165 N51c67678c56148b2868b9a7f9dfdde1c rdf:first Nfef00877bdc1483fadd27ed979d8649f
    166 rdf:rest Naa7946eb4c40438fb1e9d1a07a868437
    167 N540a2b42f2bb4878ae5f7a2cb2eb18c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    168 schema:name Age Factors
    169 rdf:type schema:DefinedTerm
    170 N55af10cb38114c4d9b042bc88101de7e rdf:first sg:person.01063341351.60
    171 rdf:rest N0d5eb1ab291e41ee8270f9f3dc329da4
    172 N5caacc7552cc48a285dcd8933a0e3fbd schema:name doi
    173 schema:value 10.1038/ng0893-387
    174 rdf:type schema:PropertyValue
    175 N5ed490642b7c4b28ac9656e80d4f80ba rdf:first sg:person.01235224147.42
    176 rdf:rest Na3740aa40d9d4c669f02a37b1b0472a0
    177 N5faa356555d9445bb4c672e97e6bd1f6 schema:affiliation grid-institutes:grid.32224.35
    178 schema:familyName Barnes
    179 schema:givenName G.
    180 rdf:type schema:Person
    181 N61c9aec341554888842e149c365a4c7c schema:volumeNumber 4
    182 rdf:type schema:PublicationVolume
    183 N682a9545258a44f9980a1749d2056578 schema:affiliation grid-institutes:grid.32224.35
    184 schema:familyName Penney
    185 schema:givenName J.
    186 rdf:type schema:Person
    187 N711484fea61b4f5aad61415ccefc2321 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    188 schema:name Genetic Linkage
    189 rdf:type schema:DefinedTerm
    190 N7583902794ec43288db7c041941a5b69 rdf:first sg:person.0773075455.78
    191 rdf:rest N89a7d27cd16e4299954304015a7914cc
    192 N7724edb9dd62415db6dd8faec155ac5f schema:affiliation grid-institutes:grid.252890.4
    193 schema:familyName Bickham Conde
    194 schema:givenName J.
    195 rdf:type schema:Person
    196 N7790decc92ca4682a6e3f4c4d48522a8 rdf:first sg:person.01165337752.06
    197 rdf:rest Nc9601b2f39e648439c1db926d6a05323
    198 N7885f57d0ab54f64afaeb75b0b26c947 rdf:first N8832aa2068b34d84963e20834906b141
    199 rdf:rest N0a3c94c3294b4c4eb43834da7b2dfc72
    200 N7b4220cd53404b1cb95388a60bfa8d24 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    201 schema:name Linkage Disequilibrium
    202 rdf:type schema:DefinedTerm
    203 N7f2244099f924d23aa9f12e80aef0364 rdf:first sg:person.015704230517.84
    204 rdf:rest Nd0855cdf114847eb95f287fb52e8b14d
    205 N7fa5d8b086f64d62aa0aeec9652e4418 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    206 schema:name Male
    207 rdf:type schema:DefinedTerm
    208 N8832aa2068b34d84963e20834906b141 schema:affiliation grid-institutes:None
    209 schema:familyName Gomez
    210 schema:givenName F.
    211 rdf:type schema:Person
    212 N89a7d27cd16e4299954304015a7914cc rdf:first sg:person.015126147177.10
    213 rdf:rest N91824947d261447da6bcddd637596af0
    214 N8cfc3c8fc37a4aef88cfef688052997d rdf:first N00ee3fa463e243ed92f454214c3eba56
    215 rdf:rest N1dcc877105eb49f0aa2da9b6a8fbf41a
    216 N8dd88101b6e94f6ebe4e8194dd11fcf2 rdf:first N91c4fe6a4ca347d1b8e4172855a9ff03
    217 rdf:rest N511b1b9318c44820b8a9b7c520fe7451
    218 N91824947d261447da6bcddd637596af0 rdf:first sg:person.01107376745.65
    219 rdf:rest Nffb31187c6dd4564ba8a3fc139de841b
    220 N91c4fe6a4ca347d1b8e4172855a9ff03 schema:affiliation grid-institutes:grid.453769.a
    221 schema:familyName Moscowitz
    222 schema:givenName C.
    223 rdf:type schema:Person
    224 N983c8e25dda64b93affd75d041398f1a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    225 schema:name Humans
    226 rdf:type schema:DefinedTerm
    227 N9e188770478e4ee4a33cad30f196da10 rdf:first N682a9545258a44f9980a1749d2056578
    228 rdf:rest N55af10cb38114c4d9b042bc88101de7e
    229 Na1fcb13eab914ec98221502e3f68574e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    230 schema:name Repetitive Sequences, Nucleic Acid
    231 rdf:type schema:DefinedTerm
    232 Na2dfb7d5ec86428da9e59092ccc70e70 schema:affiliation grid-institutes:grid.411570.6
    233 schema:familyName Gray
    234 schema:givenName J.
    235 rdf:type schema:Person
    236 Na3740aa40d9d4c669f02a37b1b0472a0 rdf:first N2a1819c9d9e6478abf2ef2e8094a9729
    237 rdf:rest N8cfc3c8fc37a4aef88cfef688052997d
    238 Na6e12d1097d94ec7ae5077d4caeea1bc rdf:first Nb5ea592f1b004763b982c95edea44d8c
    239 rdf:rest N7583902794ec43288db7c041941a5b69
    240 Na861c11f2f12428f94a7da1eaa68b80d schema:affiliation grid-institutes:grid.32224.35
    241 schema:familyName Jenkins
    242 schema:givenName B.
    243 rdf:type schema:Person
    244 Naa6a463bd6e4488bb502492c52202a04 schema:name pubmed_id
    245 schema:value 8401587
    246 rdf:type schema:PropertyValue
    247 Naa7946eb4c40438fb1e9d1a07a868437 rdf:first Nbf401e3a48954439a7bf241c9ce53ac3
    248 rdf:rest N3e99ebb20cbc402493377f230ac9f32b
    249 Nab52ff23db0f428fa50ba1beead542d9 schema:affiliation grid-institutes:grid.240023.7
    250 schema:familyName Cha
    251 schema:givenName J.-H.
    252 rdf:type schema:Person
    253 Nb1204e84b9004a39a1f8be4af4e651c7 rdf:first Ncc1aac042fd24b0b8a1d44c2fc556ddd
    254 rdf:rest Na6e12d1097d94ec7ae5077d4caeea1bc
    255 Nb14756f6b63044dbb303010318b9cde9 schema:affiliation grid-institutes:grid.32224.35
    256 schema:familyName Dure
    257 schema:givenName L.
    258 rdf:type schema:Person
    259 Nb4082a0ca3984bb09cfa522039eb921b rdf:first N5faa356555d9445bb4c672e97e6bd1f6
    260 rdf:rest Ncdd2e79440464832a1598ce20fcd2e9e
    261 Nb5ea592f1b004763b982c95edea44d8c schema:affiliation grid-institutes:grid.189504.1
    262 schema:familyName Sax
    263 schema:givenName D.
    264 rdf:type schema:Person
    265 Nbad6434cae4a4888a6dad8857d9a44e1 rdf:first sg:person.0634332240.24
    266 rdf:rest Nf5b67768920845ff9758d1b1ac80d9d2
    267 Nbd9309c37b7844baaeef7cc44b024640 rdf:first sg:person.0723021606.51
    268 rdf:rest Nc2f335fbbf9d4425a678bfde7749efc0
    269 Nbf401e3a48954439a7bf241c9ce53ac3 schema:affiliation grid-institutes:grid.32224.35
    270 schema:familyName Anderson
    271 schema:givenName M.
    272 rdf:type schema:Person
    273 Nbf7472644514420dba3c73cb88c8210b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    274 schema:name Spermatozoa
    275 rdf:type schema:DefinedTerm
    276 Nc0ac10b3f34844fe87a3bff2c8238ac5 rdf:first sg:person.01146206576.22
    277 rdf:rest Ndec2c8f121784392ad0ee310e4ef75ce
    278 Nc2f335fbbf9d4425a678bfde7749efc0 rdf:first sg:person.010442405757.16
    279 rdf:rest N7790decc92ca4682a6e3f4c4d48522a8
    280 Nc4b6953bd0504781b2adbdddf43c8b32 rdf:first sg:person.0755255635.46
    281 rdf:rest Nbd9309c37b7844baaeef7cc44b024640
    282 Nc9601b2f39e648439c1db926d6a05323 rdf:first sg:person.01025733334.76
    283 rdf:rest Nc0ac10b3f34844fe87a3bff2c8238ac5
    284 Ncc1aac042fd24b0b8a1d44c2fc556ddd schema:affiliation grid-institutes:grid.32224.35
    285 schema:familyName Koroshetz
    286 schema:givenName W.
    287 rdf:type schema:Person
    288 Nccc3668981a24ea287ba3d7e6ed26645 rdf:first Na2dfb7d5ec86428da9e59092ccc70e70
    289 rdf:rest Nbad6434cae4a4888a6dad8857d9a44e1
    290 Ncdd2e79440464832a1598ce20fcd2e9e rdf:first sg:person.012250725157.32
    291 rdf:rest N25fc6cc7256f44cbaeebfd4cf0f3a891
    292 Nd0855cdf114847eb95f287fb52e8b14d rdf:first N483f68f0d12240b59b629ff70108758e
    293 rdf:rest N0cc2a0722f4b4725a65cf39288fda904
    294 Nd0c13534cec5436d8b51a587dc078a9a rdf:first N7724edb9dd62415db6dd8faec155ac5f
    295 rdf:rest N200c826cfcae4a9292f35f9d5ecbe71e
    296 Ndabf94c7f86448ed83e0e3259dd18167 schema:issueNumber 4
    297 rdf:type schema:PublicationIssue
    298 Nde7172b19abd41eebb10e83d8e6c03fb rdf:first Ne726fec26c9c4428a83082166233875d
    299 rdf:rest Nb1204e84b9004a39a1f8be4af4e651c7
    300 Ndec2c8f121784392ad0ee310e4ef75ce rdf:first sg:person.01071033744.61
    301 rdf:rest N7f2244099f924d23aa9f12e80aef0364
    302 Ne64b40b318f44b81bf7ca23c3d6e9c8b schema:name dimensions_id
    303 schema:value pub.1048577444
    304 rdf:type schema:PropertyValue
    305 Ne726fec26c9c4428a83082166233875d schema:affiliation grid-institutes:grid.189967.8
    306 schema:familyName Falek
    307 schema:givenName A.
    308 rdf:type schema:Person
    309 Nec3269312c814ba2a933ffd0811c950b schema:affiliation grid-institutes:grid.21107.35
    310 schema:familyName Abbott
    311 schema:givenName M.
    312 rdf:type schema:Person
    313 Ned5532b39e5f4d9a8c7e94d8f94828a3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    314 schema:name Huntington Disease
    315 rdf:type schema:DefinedTerm
    316 Nf5b67768920845ff9758d1b1ac80d9d2 rdf:first N4f135ee5ef884a1393efcee641b1323b
    317 rdf:rest N9e188770478e4ee4a33cad30f196da10
    318 Nfb30f11851f64bc89b3021907a859da0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    319 schema:name Middle Aged
    320 rdf:type schema:DefinedTerm
    321 Nfef00877bdc1483fadd27ed979d8649f schema:affiliation grid-institutes:grid.32224.35
    322 schema:familyName MacFarlane
    323 schema:givenName H.
    324 rdf:type schema:Person
    325 Nffb31187c6dd4564ba8a3fc139de841b rdf:first sg:person.014136347237.18
    326 rdf:rest Nd0c13534cec5436d8b51a587dc078a9a
    327 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    328 schema:name Biological Sciences
    329 rdf:type schema:DefinedTerm
    330 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    331 schema:name Genetics
    332 rdf:type schema:DefinedTerm
    333 sg:grant.2437255 http://pending.schema.org/fundedItem sg:pub.10.1038/ng0893-387
    334 rdf:type schema:MonetaryGrant
    335 sg:grant.2437256 http://pending.schema.org/fundedItem sg:pub.10.1038/ng0893-387
    336 rdf:type schema:MonetaryGrant
    337 sg:grant.2441040 http://pending.schema.org/fundedItem sg:pub.10.1038/ng0893-387
    338 rdf:type schema:MonetaryGrant
    339 sg:grant.2441042 http://pending.schema.org/fundedItem sg:pub.10.1038/ng0893-387
    340 rdf:type schema:MonetaryGrant
    341 sg:grant.2554730 http://pending.schema.org/fundedItem sg:pub.10.1038/ng0893-387
    342 rdf:type schema:MonetaryGrant
    343 sg:journal.1103138 schema:issn 1061-4036
    344 1546-1718
    345 schema:name Nature Genetics
    346 schema:publisher Springer Nature
    347 rdf:type schema:Periodical
    348 sg:person.01025733334.76 schema:affiliation grid-institutes:grid.6530.0
    349 schema:familyName Persichetti
    350 schema:givenName F.
    351 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01025733334.76
    352 rdf:type schema:Person
    353 sg:person.010442405757.16 schema:affiliation grid-institutes:grid.189504.1
    354 schema:familyName Myers
    355 schema:givenName R.
    356 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010442405757.16
    357 rdf:type schema:Person
    358 sg:person.01063341351.60 schema:affiliation grid-institutes:grid.32224.35
    359 schema:familyName Hollingsworth
    360 schema:givenName Z.
    361 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063341351.60
    362 rdf:type schema:Person
    363 sg:person.01071033744.61 schema:affiliation grid-institutes:grid.21107.35
    364 schema:familyName Folstein
    365 schema:givenName S.
    366 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071033744.61
    367 rdf:type schema:Person
    368 sg:person.01107376745.65 schema:affiliation grid-institutes:grid.411267.7
    369 schema:familyName Bonilla
    370 schema:givenName E.
    371 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01107376745.65
    372 rdf:type schema:Person
    373 sg:person.01146206576.22 schema:affiliation grid-institutes:grid.5326.2
    374 schema:familyName Frontali
    375 schema:givenName M.
    376 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146206576.22
    377 rdf:type schema:Person
    378 sg:person.01165337752.06 schema:affiliation grid-institutes:grid.6530.0
    379 schema:familyName Novelletto
    380 schema:givenName A.
    381 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165337752.06
    382 rdf:type schema:Person
    383 sg:person.01214160657.05 schema:affiliation grid-institutes:grid.453769.a
    384 schema:familyName Penchaszadeh
    385 schema:givenName G.
    386 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01214160657.05
    387 rdf:type schema:Person
    388 sg:person.012250725157.32 schema:affiliation grid-institutes:grid.38142.3c
    389 schema:familyName Gusella
    390 schema:givenName J.
    391 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012250725157.32
    392 rdf:type schema:Person
    393 sg:person.01235224147.42 schema:affiliation grid-institutes:grid.26790.3a
    394 schema:familyName Sanchez-Ramos
    395 schema:givenName J.
    396 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01235224147.42
    397 rdf:type schema:Person
    398 sg:person.01333046672.39 schema:affiliation grid-institutes:grid.32224.35
    399 schema:familyName MacDonald
    400 schema:givenName M.
    401 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333046672.39
    402 rdf:type schema:Person
    403 sg:person.014136347237.18 schema:affiliation grid-institutes:grid.273206.2
    404 schema:familyName Alvir
    405 schema:givenName J.
    406 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014136347237.18
    407 rdf:type schema:Person
    408 sg:person.015126147177.10 schema:affiliation grid-institutes:grid.38142.3c
    409 schema:familyName Vonsattel
    410 schema:givenName J.
    411 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015126147177.10
    412 rdf:type schema:Person
    413 sg:person.015704230517.84 schema:affiliation grid-institutes:grid.21107.35
    414 schema:familyName Ross
    415 schema:givenName C.
    416 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015704230517.84
    417 rdf:type schema:Person
    418 sg:person.0634332240.24 schema:affiliation grid-institutes:grid.411570.6
    419 schema:familyName Conneally
    420 schema:givenName P.
    421 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634332240.24
    422 rdf:type schema:Person
    423 sg:person.0671611030.63 schema:affiliation grid-institutes:grid.453769.a
    424 schema:familyName Wexler
    425 schema:givenName N.
    426 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0671611030.63
    427 rdf:type schema:Person
    428 sg:person.0723021606.51 schema:affiliation grid-institutes:grid.32224.35
    429 schema:familyName Ambrose
    430 schema:givenName C.
    431 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723021606.51
    432 rdf:type schema:Person
    433 sg:person.0743720436.41 schema:affiliation grid-institutes:grid.412750.5
    434 schema:familyName Shoulson
    435 schema:givenName I.
    436 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0743720436.41
    437 rdf:type schema:Person
    438 sg:person.0755255635.46 schema:affiliation grid-institutes:grid.32224.35
    439 schema:familyName Duyao
    440 schema:givenName M.
    441 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755255635.46
    442 rdf:type schema:Person
    443 sg:person.0773075455.78 schema:affiliation grid-institutes:grid.38142.3c
    444 schema:familyName Bird
    445 schema:givenName E.
    446 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773075455.78
    447 rdf:type schema:Person
    448 sg:pub.10.1007/bf02619631 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007374959
    449 https://doi.org/10.1007/bf02619631
    450 rdf:type schema:CreativeWork
    451 sg:pub.10.1038/306234a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008727690
    452 https://doi.org/10.1038/306234a0
    453 rdf:type schema:CreativeWork
    454 sg:pub.10.1038/326194a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012101430
    455 https://doi.org/10.1038/326194a0
    456 rdf:type schema:CreativeWork
    457 sg:pub.10.1038/352077a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039878884
    458 https://doi.org/10.1038/352077a0
    459 rdf:type schema:CreativeWork
    460 sg:pub.10.1038/355545a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030097475
    461 https://doi.org/10.1038/355545a0
    462 rdf:type schema:CreativeWork
    463 sg:pub.10.1038/355547a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025773144
    464 https://doi.org/10.1038/355547a0
    465 rdf:type schema:CreativeWork
    466 sg:pub.10.1038/355548a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039513377
    467 https://doi.org/10.1038/355548a0
    468 rdf:type schema:CreativeWork
    469 sg:pub.10.1038/ng0592-99 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051122816
    470 https://doi.org/10.1038/ng0592-99
    471 rdf:type schema:CreativeWork
    472 sg:pub.10.1038/ng0692-192 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012530665
    473 https://doi.org/10.1038/ng0692-192
    474 rdf:type schema:CreativeWork
    475 sg:pub.10.1038/ng0793-221 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024789892
    476 https://doi.org/10.1038/ng0793-221
    477 rdf:type schema:CreativeWork
    478 sg:pub.10.1038/ng0793-295 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013454954
    479 https://doi.org/10.1038/ng0793-295
    480 rdf:type schema:CreativeWork
    481 sg:pub.10.1038/ng1292-301 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053577537
    482 https://doi.org/10.1038/ng1292-301
    483 rdf:type schema:CreativeWork
    484 grid-institutes:None schema:alternateName Aguirre 621-7A, Capital 1414, Buenos Aires, Argentina
    485 schema:name Aguirre 621-7A, Capital 1414, Buenos Aires, Argentina
    486 rdf:type schema:Organization
    487 grid-institutes:grid.189504.1 schema:alternateName Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA
    488 schema:name Department of Neurology, Boston University Medical School, 02118, Boston, Massachusetts, USA
    489 rdf:type schema:Organization
    490 grid-institutes:grid.189967.8 schema:alternateName Department of Psychiatry, Emory University School of Medicine, 30306, Atlanta, Georgia, USA
    491 schema:name Department of Psychiatry, Emory University School of Medicine, 30306, Atlanta, Georgia, USA
    492 rdf:type schema:Organization
    493 grid-institutes:grid.21107.35 schema:alternateName Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA
    494 schema:name Department of Psychiatry, Johns Hopkins University School of Medicine, 21205, Baltimore, Maryland, USA
    495 rdf:type schema:Organization
    496 grid-institutes:grid.240023.7 schema:alternateName Neuroscience Laboratory, Kennedy Kreiger Institute, 21205, Baltimore, Maryland, USA
    497 schema:name Neuroscience Laboratory, Kennedy Kreiger Institute, 21205, Baltimore, Maryland, USA
    498 rdf:type schema:Organization
    499 grid-institutes:grid.252890.4 schema:alternateName Baylor University College of Medicine, 77009, Houston, Texas, USA
    500 schema:name Baylor University College of Medicine, 77009, Houston, Texas, USA
    501 rdf:type schema:Organization
    502 grid-institutes:grid.26790.3a schema:alternateName Department of Neurology, University of Miami, 33136, Miami, Florida, USA
    503 schema:name Department of Neurology, University of Miami, 33136, Miami, Florida, USA
    504 rdf:type schema:Organization
    505 grid-institutes:grid.273206.2 schema:alternateName Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA
    506 schema:name Long Island Jewish Hillside Medical Center, 11004, Glen Oaks, New York, USA
    507 rdf:type schema:Organization
    508 grid-institutes:grid.32224.35 schema:alternateName Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA
    509 Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA
    510 schema:name Department of Neurology, Massachusetts General Hospital, 02114, Boston, Massachusetts, USA
    511 Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA
    512 rdf:type schema:Organization
    513 grid-institutes:grid.38142.3c schema:alternateName Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA
    514 Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts, USA
    515 schema:name Brain Tissue Resource Center, McLean Hospital and Department of Neuropathology, Harvard Medical School, 02178, Belmont, Massachusetts, USA
    516 Department of Genetics, Harvard Medical School, 02114, Boston, Massachusetts, USA
    517 Molecular Neurogenetics Unit, Massachusetts General Hospital, 02129, Charlestown, Massachusetts, USA
    518 rdf:type schema:Organization
    519 grid-institutes:grid.410721.1 schema:alternateName Pediatric Neurology, University of Mississippi Medical Center, 39216, Jackson, Mississippi, USA
    520 schema:name Pediatric Neurology, University of Mississippi Medical Center, 39216, Jackson, Mississippi, USA
    521 rdf:type schema:Organization
    522 grid-institutes:grid.411267.7 schema:alternateName Universidad de Zulia, Maracaibo, Venezuela
    523 schema:name Universidad de Zulia, Maracaibo, Venezuela
    524 rdf:type schema:Organization
    525 grid-institutes:grid.411570.6 schema:alternateName Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA
    526 schema:name Department of Medical Genetics, Indiana University Medical Center, 46202, Indianapolis, Indiana, USA
    527 rdf:type schema:Organization
    528 grid-institutes:grid.412750.5 schema:alternateName Department of Neurology, University of Rochester Medical Center, 14642, Rochester, New York, USA
    529 schema:name Department of Neurology, University of Rochester Medical Center, 14642, Rochester, New York, USA
    530 rdf:type schema:Organization
    531 grid-institutes:grid.413524.5 schema:alternateName Servicio de Genetica, Hospital Virgen del Camino, 31008, Pamplona, Spain
    532 schema:name Servicio de Genetica, Hospital Virgen del Camino, 31008, Pamplona, Spain
    533 rdf:type schema:Organization
    534 grid-institutes:grid.430387.b schema:alternateName Department of Neurology, Robert Wood Johnson Medical School, 08903, New Brunswick, New Jersey, USA
    535 schema:name Department of Neurology, Robert Wood Johnson Medical School, 08903, New Brunswick, New Jersey, USA
    536 rdf:type schema:Organization
    537 grid-institutes:grid.453769.a schema:alternateName Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA
    538 schema:name Departments of Neurology and Psychiatry, College of Physicians and Surgeons, Columbia University, 10032, New York
    539 Hereditary Disease Foundation, 1427 7th St., Suite 2, 90401, Santa Monica, California, USA
    540 rdf:type schema:Organization
    541 grid-institutes:grid.5326.2 schema:alternateName Instituto di Medicina Sperimentale, CNR, Rome, Italy
    542 schema:name Instituto di Medicina Sperimentale, CNR, Rome, Italy
    543 rdf:type schema:Organization
    544 grid-institutes:grid.6530.0 schema:alternateName Department of Biology, University of Rome “Tor Vergata”, Rome, Italy
    545 schema:name Department of Biology, University of Rome “Tor Vergata”, Rome, Italy
    546 rdf:type schema:Organization
     




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


    ...