Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy D. Harper, Julie R. Jones, Benjamin Kamien, Kristin Kernohan, Mary Kay Koenig, Matthew Lines, Elizabeth Emma Palmer, Randal Richardson, Reeval Segel, Mark Tarnopolsky, Jason R. Vanstone, Melissa Gibbons, Abigail Collins, Brent L. Fogel, Care4Rare Canada Consortium, Tracy Dudding-Byth, Kym M. Boycott

ABSTRACT

BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. RESULTS: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3-12 years of age. Mild-to-moderate cognitive impairment was present in 17 individuals (85%). Cerebellar atrophy developed after initial symptom presentation in 13 individuals (72%) and was not associated with disease progression or worsening functional impairment. We identified 12 different mutations including 6 novel mutations; 10 mutations were missense (with 4 present in >1 individual), 1 a splice site mutation leading to an in-frame insertion and 1 an in-frame deletion. No specific genotype-phenotype correlations were observed within our cohort. CONCLUSIONS: Our findings document significant clinical heterogeneity between individuals with SCA29 in a large cohort of molecularly confirmed cases. Based on the retrospective observed clinical features and disease course, we provide recommendations for management. Further research into the natural history of SCA29 through prospective studies is an important next step in better understanding the condition. More... »

PAGES

121

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13023-017-0672-7

DOI

http://dx.doi.org/10.1186/s13023-017-0672-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1090283503

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28659154


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cerebellar Ataxia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Inositol 1,4,5-Trisphosphate Receptors", 
        "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": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Retrospective Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Spinocerebellar Ataxias", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Eastern Ontario", 
          "id": "https://www.grid.ac/institutes/grid.414148.c", 
          "name": [
            "Department of Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zambonin", 
        "givenName": "Jessica L.", 
        "id": "sg:person.0577526571.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577526571.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bellomo", 
        "givenName": "Allison", 
        "id": "sg:person.011475337043.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011475337043.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ben-Pazi", 
        "givenName": "Hilla", 
        "id": "sg:person.01000762307.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000762307.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Everman", 
        "givenName": "David B.", 
        "id": "sg:person.0707220737.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707220737.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Frazer", 
        "givenName": "Lee M.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Eastern Ontario", 
          "id": "https://www.grid.ac/institutes/grid.414148.c", 
          "name": [
            "Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Geraghty", 
        "givenName": "Michael T.", 
        "id": "sg:person.0637066640.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637066640.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Carolinas Healthcare System", 
          "id": "https://www.grid.ac/institutes/grid.427669.8", 
          "name": [
            "Carolinas Healthcare System, Charlotte, NC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Harper", 
        "givenName": "Amy D.", 
        "id": "sg:person.01302370213.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302370213.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Greenwood Genetic Center", 
          "id": "https://www.grid.ac/institutes/grid.418307.9", 
          "name": [
            "Greenwood Genetic Center, Greenwood, SC, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jones", 
        "givenName": "Julie R.", 
        "id": "sg:person.0615724561.93", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615724561.93"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Hunter Genetics, Newcastle, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kamien", 
        "givenName": "Benjamin", 
        "id": "sg:person.01327354306.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327354306.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Eastern Ontario", 
          "id": "https://www.grid.ac/institutes/grid.414148.c", 
          "name": [
            "Department of Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada", 
            "Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kernohan", 
        "givenName": "Kristin", 
        "id": "sg:person.0641553157.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641553157.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "The University of Texas Health Science Center at Houston", 
          "id": "https://www.grid.ac/institutes/grid.267308.8", 
          "name": [
            "University of Texas Health Science Center at Houston, Houston, TX, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koenig", 
        "givenName": "Mary Kay", 
        "id": "sg:person.01325450216.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325450216.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Eastern Ontario", 
          "id": "https://www.grid.ac/institutes/grid.414148.c", 
          "name": [
            "Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lines", 
        "givenName": "Matthew", 
        "id": "sg:person.0727654476.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727654476.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "UNSW Australia", 
          "id": "https://www.grid.ac/institutes/grid.1005.4", 
          "name": [
            "Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia", 
            "University of New South Wales, Randwick, Sydney, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Palmer", 
        "givenName": "Elizabeth Emma", 
        "id": "sg:person.01027662276.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027662276.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Gillette Children\u2019s Specialty Healthcare, St Paul, MN, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Richardson", 
        "givenName": "Randal", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Segel", 
        "givenName": "Reeval", 
        "id": "sg:person.01163661643.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163661643.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McMaster University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.411657.0", 
          "name": [
            "Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tarnopolsky", 
        "givenName": "Mark", 
        "id": "sg:person.01225430011.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225430011.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Eastern Ontario", 
          "id": "https://www.grid.ac/institutes/grid.414148.c", 
          "name": [
            "Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vanstone", 
        "givenName": "Jason R.", 
        "id": "sg:person.0734545227.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734545227.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Colorado Denver", 
          "id": "https://www.grid.ac/institutes/grid.241116.1", 
          "name": [
            "Department of Neurology, Children\u2019s Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Gibbons", 
        "givenName": "Melissa", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Colorado Denver", 
          "id": "https://www.grid.ac/institutes/grid.241116.1", 
          "name": [
            "Departments of Pediatrics and Neurology, Children\u2019s Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Collins", 
        "givenName": "Abigail", 
        "id": "sg:person.01154661444.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154661444.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of California Los Angeles", 
          "id": "https://www.grid.ac/institutes/grid.19006.3e", 
          "name": [
            "Program in Neurogenetics, Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fogel", 
        "givenName": "Brent L.", 
        "id": "sg:person.01030461430.37", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030461430.37"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Care4Rare Canada Consortium", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Newcastle Australia", 
          "id": "https://www.grid.ac/institutes/grid.266842.c", 
          "name": [
            "University of Newcastle Australia, Grow Up Well Priority Research Centre & Hunter Genetics & NSW Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dudding-Byth", 
        "givenName": "Tracy", 
        "id": "sg:person.0606024306.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606024306.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Children's Hospital of Eastern Ontario", 
          "id": "https://www.grid.ac/institutes/grid.414148.c", 
          "name": [
            "Department of Genetics, Children\u2019s Hospital of Eastern Ontario, Ottawa, ON, Canada", 
            "Children\u2019s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boycott", 
        "givenName": "Kym M.", 
        "id": "sg:person.01231345512.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231345512.97"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.ncl.2013.04.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006244034"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2016.03.004", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009278714"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archneur.1989.00520410118036", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009754929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/cge.12783", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015566919"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0387-7604(98)00019-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015618963"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbrc.2011.06.043", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016637309"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1750-1172-7-67", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018737879", 
          "https://doi.org/10.1186/1750-1172-7-67"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/jamaneurol.2014.1944", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019072833"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/humu.22451", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019264542"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00415-015-7705-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019801632", 
          "https://doi.org/10.1007/s00415-015-7705-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2016.03.018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020866916"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0887-8994(96)00220-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021158192"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archneur.63.4.594", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023218041"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0387-7604(93)90124-q", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024410739"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0387-7604(93)90124-q", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024410739"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1998.tb15438.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024532683"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1469-8749.1998.tb15438.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024532683"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2014.154", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027316421", 
          "https://doi.org/10.1038/gim.2014.154"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.37962", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028288958"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.celrep.2015.07.023", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031639899"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1373/clinchem.2009.124958", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032627625"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0887-8994(87)90008-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035990525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0887-8994(87)90008-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035990525"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.neuint.2016.01.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042710587"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awv117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046633376"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s40673-016-0040-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051477222", 
          "https://doi.org/10.1186/s40673-016-0040-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.410170417", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052276168"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2008-1071342", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057562696"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/088307389100600104", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063855918"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/088307389100600104", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1063855918"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000147299.80872.d1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346632"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000147299.80872.d1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346632"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000147299.80872.d1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064346632"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000311277.71046.a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064350201"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000311277.71046.a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064350201"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/01.wnl.0000311277.71046.a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064350201"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-12", 
    "datePublishedReg": "2017-12-01", 
    "description": "BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible.\nRESULTS: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28\u00a0months to 49\u00a0years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3-12\u00a0years of age. Mild-to-moderate cognitive impairment was present in 17 individuals (85%). Cerebellar atrophy developed after initial symptom presentation in 13 individuals (72%) and was not associated with disease progression or worsening functional impairment. We identified 12 different mutations including 6 novel mutations; 10 mutations were missense (with 4 present in >1 individual), 1 a splice site mutation leading to an in-frame insertion and 1 an in-frame deletion. No specific genotype-phenotype correlations were observed within our cohort.\nCONCLUSIONS: Our findings document significant clinical heterogeneity between individuals with SCA29 in a large cohort of molecularly confirmed cases. Based on the retrospective observed clinical features and disease course, we provide recommendations for management. Further research into the natural history of SCA29 through prospective studies is an important next step in better understanding the condition.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13023-017-0672-7", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2563532", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1036535", 
        "issn": [
          "1750-1172"
        ], 
        "name": "Orphanet Journal of Rare Diseases", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "12"
      }
    ], 
    "name": "Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia", 
    "pagination": "121", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "5d62cbd69af39d44f8eda578d3f638056aa47c618c33b98051d15cb30ab55ce7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28659154"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101266602"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13023-017-0672-7"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1090283503"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13023-017-0672-7", 
      "https://app.dimensions.ai/details/publication/pub.1090283503"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:42", 
    "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/v90/0000000363_0000000363/records_70058_00000002.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13023-017-0672-7"
  }
]
 

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.10.1186/s13023-017-0672-7'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0672-7'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0672-7'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13023-017-0672-7'


 

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

397 TRIPLES      21 PREDICATES      71 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13023-017-0672-7 schema:about N17c3780dd58943cda8bcff765a3d3378
2 N1a1615678f36449b9eb0e74f81a5c5dc
3 N372ce9cbcf1c42eab3d3ee931074a0ac
4 N595d8743c37b4d1b98d243799a18807b
5 N60bdfeb87be3473ab76d661a704b7042
6 N61572f64b62b4142b6699ed0dbbc67ac
7 N733788473153463fa486ba11abd3ac51
8 N80c48969ad39455986f7cae75943813e
9 N90ec7ea6ccad4439ac9f69830e903948
10 Nc8876e601f524974aa60a2c034139188
11 Nd285c67ded4447dda0fd2f8ed7615f58
12 Ndd9e2ccf7b7348a08307584bcec73762
13 Ned84e064d9a2446482c1fbdde8b2ea44
14 Nedb23a8374ba4746b868d3d2aa41b771
15 anzsrc-for:11
16 anzsrc-for:1103
17 schema:author N1812d1d2f50d4f27914a2433151fce99
18 schema:citation sg:pub.10.1007/s00415-015-7705-8
19 sg:pub.10.1038/gim.2014.154
20 sg:pub.10.1186/1750-1172-7-67
21 sg:pub.10.1186/s40673-016-0040-8
22 https://doi.org/10.1001/archneur.1989.00520410118036
23 https://doi.org/10.1001/archneur.63.4.594
24 https://doi.org/10.1001/jamaneurol.2014.1944
25 https://doi.org/10.1002/ajmg.a.37962
26 https://doi.org/10.1002/ana.410170417
27 https://doi.org/10.1002/humu.22451
28 https://doi.org/10.1016/0387-7604(93)90124-q
29 https://doi.org/10.1016/0887-8994(87)90008-7
30 https://doi.org/10.1016/j.ajhg.2016.03.004
31 https://doi.org/10.1016/j.ajhg.2016.03.018
32 https://doi.org/10.1016/j.bbrc.2011.06.043
33 https://doi.org/10.1016/j.celrep.2015.07.023
34 https://doi.org/10.1016/j.ncl.2013.04.006
35 https://doi.org/10.1016/j.neuint.2016.01.007
36 https://doi.org/10.1016/s0387-7604(98)00019-9
37 https://doi.org/10.1016/s0887-8994(96)00220-2
38 https://doi.org/10.1055/s-2008-1071342
39 https://doi.org/10.1093/brain/awv117
40 https://doi.org/10.1111/cge.12783
41 https://doi.org/10.1111/j.1469-8749.1998.tb15438.x
42 https://doi.org/10.1177/088307389100600104
43 https://doi.org/10.1212/01.wnl.0000147299.80872.d1
44 https://doi.org/10.1212/01.wnl.0000311277.71046.a0
45 https://doi.org/10.1373/clinchem.2009.124958
46 schema:datePublished 2017-12
47 schema:datePublishedReg 2017-12-01
48 schema:description BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. Affected individuals exhibit cerebellar dysfunction and often have cerebellar atrophy on neuroimaging. Recently, missense mutations in ITPR1 were determined to be responsible. RESULTS: Clinical information on 21 individuals from 15 unrelated families with ITPR1 mutations was retrospectively collected using standardized questionnaires, including 11 previously unreported singletons and 2 new patients from a previously reported family. We describe the genetic, clinical and neuroimaging features of these patients to further characterize the clinical features of this rare condition and assess for any genotype-phenotype correlation for this disorder. Our cohort consisted of 9 males and 12 females, with ages ranging from 28 months to 49 years. Disease course was non-progressive with infantile-onset hypotonia and delays in motor and speech development. Gait ataxia was present in all individuals and 10 (48%) were not ambulating independently between the ages of 3-12 years of age. Mild-to-moderate cognitive impairment was present in 17 individuals (85%). Cerebellar atrophy developed after initial symptom presentation in 13 individuals (72%) and was not associated with disease progression or worsening functional impairment. We identified 12 different mutations including 6 novel mutations; 10 mutations were missense (with 4 present in >1 individual), 1 a splice site mutation leading to an in-frame insertion and 1 an in-frame deletion. No specific genotype-phenotype correlations were observed within our cohort. CONCLUSIONS: Our findings document significant clinical heterogeneity between individuals with SCA29 in a large cohort of molecularly confirmed cases. Based on the retrospective observed clinical features and disease course, we provide recommendations for management. Further research into the natural history of SCA29 through prospective studies is an important next step in better understanding the condition.
49 schema:genre research_article
50 schema:inLanguage en
51 schema:isAccessibleForFree true
52 schema:isPartOf N4e0b70ab854044e2bb0920801a37ea7b
53 Nd4a02a6ce3a644f2b5ca7ebe0d9a8d17
54 sg:journal.1036535
55 schema:name Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
56 schema:pagination 121
57 schema:productId N2208589cc6af44f9a70a014a6d1dfb7b
58 N4c594721e6d94565b725247d6d641362
59 N60e24a428eeb4675970dd67c2edbfa71
60 Nbf7c790a58d64a17bb21fc57ca98957c
61 Nf8da6037078a4e3fa59475568449ab70
62 schema:sameAs https://app.dimensions.ai/details/publication/pub.1090283503
63 https://doi.org/10.1186/s13023-017-0672-7
64 schema:sdDatePublished 2019-04-11T12:42
65 schema:sdLicense https://scigraph.springernature.com/explorer/license/
66 schema:sdPublisher Na1d4bb979037480a9847c6a654fa75af
67 schema:url https://link.springer.com/10.1186%2Fs13023-017-0672-7
68 sgo:license sg:explorer/license/
69 sgo:sdDataset articles
70 rdf:type schema:ScholarlyArticle
71 N0dbecbe467ef4562a0a585e1a6ef9d86 schema:familyName Care4Rare Canada Consortium
72 rdf:type schema:Person
73 N17c3780dd58943cda8bcff765a3d3378 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
74 schema:name Spinocerebellar Ataxias
75 rdf:type schema:DefinedTerm
76 N1812d1d2f50d4f27914a2433151fce99 rdf:first sg:person.0577526571.24
77 rdf:rest N37c83bce0668478fb6015d706b69531c
78 N1a1615678f36449b9eb0e74f81a5c5dc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
79 schema:name Adolescent
80 rdf:type schema:DefinedTerm
81 N2208589cc6af44f9a70a014a6d1dfb7b schema:name pubmed_id
82 schema:value 28659154
83 rdf:type schema:PropertyValue
84 N296e43fac3aa4114919d7e0806268a4f rdf:first sg:person.0707220737.64
85 rdf:rest N688dfdfec12f4bd8bd397c7e2726d5bf
86 N30109fdc0b00421b860ab9346bf46582 rdf:first N5ecb427b40784e55a7814603e590bfba
87 rdf:rest N4defefb01110475485942b8f648c4df4
88 N34015d4e4299457ab0730929defa0fc8 schema:name Gillette Children’s Specialty Healthcare, St Paul, MN, USA
89 rdf:type schema:Organization
90 N372ce9cbcf1c42eab3d3ee931074a0ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Cerebellar Ataxia
92 rdf:type schema:DefinedTerm
93 N37c83bce0668478fb6015d706b69531c rdf:first sg:person.011475337043.84
94 rdf:rest Nc196d1d729524e50ada3389cc37e1309
95 N3c22d10377cf4d869404aaa39d4706e0 rdf:first sg:person.0727654476.23
96 rdf:rest N60a84805e14c43c7ba78386d59d80030
97 N477566a7893d4430a809ef476dd08af9 rdf:first sg:person.0615724561.93
98 rdf:rest N4cce5dba690a4b358b149b4629d10ef3
99 N4c594721e6d94565b725247d6d641362 schema:name readcube_id
100 schema:value 5d62cbd69af39d44f8eda578d3f638056aa47c618c33b98051d15cb30ab55ce7
101 rdf:type schema:PropertyValue
102 N4cce5dba690a4b358b149b4629d10ef3 rdf:first sg:person.01327354306.54
103 rdf:rest N71adc31cbe594f3cb61e5cf9c7a4c6cf
104 N4defefb01110475485942b8f648c4df4 rdf:first sg:person.01154661444.91
105 rdf:rest N72238acf88e347ec84be8db5c234bffd
106 N4e0b70ab854044e2bb0920801a37ea7b schema:issueNumber 1
107 rdf:type schema:PublicationIssue
108 N592524166ce9450f9ee205d8d44a9cec schema:name Shaare Zedek Medical Center and the Hebrew University School of Medicine, Jerusalem, Israel
109 rdf:type schema:Organization
110 N595d8743c37b4d1b98d243799a18807b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Middle Aged
112 rdf:type schema:DefinedTerm
113 N5995863c446149cdba543a84026e30a1 rdf:first sg:person.01325450216.42
114 rdf:rest N3c22d10377cf4d869404aaa39d4706e0
115 N5ecb427b40784e55a7814603e590bfba schema:affiliation https://www.grid.ac/institutes/grid.241116.1
116 schema:familyName Gibbons
117 schema:givenName Melissa
118 rdf:type schema:Person
119 N60a84805e14c43c7ba78386d59d80030 rdf:first sg:person.01027662276.55
120 rdf:rest Nf06d44ca121946f18e6af659ce072ba9
121 N60bdfeb87be3473ab76d661a704b7042 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Adult
123 rdf:type schema:DefinedTerm
124 N60e24a428eeb4675970dd67c2edbfa71 schema:name doi
125 schema:value 10.1186/s13023-017-0672-7
126 rdf:type schema:PropertyValue
127 N61572f64b62b4142b6699ed0dbbc67ac schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Male
129 rdf:type schema:DefinedTerm
130 N688dfdfec12f4bd8bd397c7e2726d5bf rdf:first Nf60a105781354b839478a9149eb08fcf
131 rdf:rest N744b40f74a484b9986cca6e8f61db80e
132 N6a6461e5d9f1434b87b44c503a1a528e rdf:first sg:person.01231345512.97
133 rdf:rest rdf:nil
134 N71adc31cbe594f3cb61e5cf9c7a4c6cf rdf:first sg:person.0641553157.15
135 rdf:rest N5995863c446149cdba543a84026e30a1
136 N72238acf88e347ec84be8db5c234bffd rdf:first sg:person.01030461430.37
137 rdf:rest Nc4ff3f158d8b4e4e80823479d977e5e9
138 N733788473153463fa486ba11abd3ac51 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Child
140 rdf:type schema:DefinedTerm
141 N744b40f74a484b9986cca6e8f61db80e rdf:first sg:person.0637066640.38
142 rdf:rest Ne571b3f9e6db43f994c1bda890b4ef11
143 N80c48969ad39455986f7cae75943813e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Inositol 1,4,5-Trisphosphate Receptors
145 rdf:type schema:DefinedTerm
146 N90ec7ea6ccad4439ac9f69830e903948 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name Humans
148 rdf:type schema:DefinedTerm
149 Na1d4bb979037480a9847c6a654fa75af schema:name Springer Nature - SN SciGraph project
150 rdf:type schema:Organization
151 Na46480bc7a924cddb445787e390bba0c schema:name Hunter Genetics, Newcastle, NSW, Australia
152 rdf:type schema:Organization
153 Na7a77a091df94e1e8319292e6e7aa91b schema:affiliation N34015d4e4299457ab0730929defa0fc8
154 schema:familyName Richardson
155 schema:givenName Randal
156 rdf:type schema:Person
157 Nb64c070fad094631a18e36ba655e314e rdf:first sg:person.01163661643.17
158 rdf:rest Ne7750400177c4e899324c1a574fcaefa
159 Nbd7943f1346c4678ab980807852b3b93 schema:name Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel
160 rdf:type schema:Organization
161 Nbf7c790a58d64a17bb21fc57ca98957c schema:name dimensions_id
162 schema:value pub.1090283503
163 rdf:type schema:PropertyValue
164 Nc196d1d729524e50ada3389cc37e1309 rdf:first sg:person.01000762307.12
165 rdf:rest N296e43fac3aa4114919d7e0806268a4f
166 Nc4ff3f158d8b4e4e80823479d977e5e9 rdf:first N0dbecbe467ef4562a0a585e1a6ef9d86
167 rdf:rest Ndb9e56b0d96a4bf28373982f7bcbf125
168 Nc8876e601f524974aa60a2c034139188 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Mutation
170 rdf:type schema:DefinedTerm
171 Nd285c67ded4447dda0fd2f8ed7615f58 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
172 schema:name Female
173 rdf:type schema:DefinedTerm
174 Nd4a02a6ce3a644f2b5ca7ebe0d9a8d17 schema:volumeNumber 12
175 rdf:type schema:PublicationVolume
176 Ndb9e56b0d96a4bf28373982f7bcbf125 rdf:first sg:person.0606024306.21
177 rdf:rest N6a6461e5d9f1434b87b44c503a1a528e
178 Ndd9e2ccf7b7348a08307584bcec73762 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name Young Adult
180 rdf:type schema:DefinedTerm
181 Ne571b3f9e6db43f994c1bda890b4ef11 rdf:first sg:person.01302370213.32
182 rdf:rest N477566a7893d4430a809ef476dd08af9
183 Ne7750400177c4e899324c1a574fcaefa rdf:first sg:person.01225430011.48
184 rdf:rest Neac1e9d410554f2aa3961cc93c91bd43
185 Neac1e9d410554f2aa3961cc93c91bd43 rdf:first sg:person.0734545227.43
186 rdf:rest N30109fdc0b00421b860ab9346bf46582
187 Ned84e064d9a2446482c1fbdde8b2ea44 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
188 schema:name Child, Preschool
189 rdf:type schema:DefinedTerm
190 Nedb23a8374ba4746b868d3d2aa41b771 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
191 schema:name Retrospective Studies
192 rdf:type schema:DefinedTerm
193 Nf06d44ca121946f18e6af659ce072ba9 rdf:first Na7a77a091df94e1e8319292e6e7aa91b
194 rdf:rest Nb64c070fad094631a18e36ba655e314e
195 Nf60a105781354b839478a9149eb08fcf schema:affiliation https://www.grid.ac/institutes/grid.418307.9
196 schema:familyName Frazer
197 schema:givenName Lee M.
198 rdf:type schema:Person
199 Nf8da6037078a4e3fa59475568449ab70 schema:name nlm_unique_id
200 schema:value 101266602
201 rdf:type schema:PropertyValue
202 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
203 schema:name Medical and Health Sciences
204 rdf:type schema:DefinedTerm
205 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
206 schema:name Clinical Sciences
207 rdf:type schema:DefinedTerm
208 sg:grant.2563532 http://pending.schema.org/fundedItem sg:pub.10.1186/s13023-017-0672-7
209 rdf:type schema:MonetaryGrant
210 sg:journal.1036535 schema:issn 1750-1172
211 schema:name Orphanet Journal of Rare Diseases
212 rdf:type schema:Periodical
213 sg:person.01000762307.12 schema:affiliation Nbd7943f1346c4678ab980807852b3b93
214 schema:familyName Ben-Pazi
215 schema:givenName Hilla
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000762307.12
217 rdf:type schema:Person
218 sg:person.01027662276.55 schema:affiliation https://www.grid.ac/institutes/grid.1005.4
219 schema:familyName Palmer
220 schema:givenName Elizabeth Emma
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027662276.55
222 rdf:type schema:Person
223 sg:person.01030461430.37 schema:affiliation https://www.grid.ac/institutes/grid.19006.3e
224 schema:familyName Fogel
225 schema:givenName Brent L.
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01030461430.37
227 rdf:type schema:Person
228 sg:person.011475337043.84 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
229 schema:familyName Bellomo
230 schema:givenName Allison
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011475337043.84
232 rdf:type schema:Person
233 sg:person.01154661444.91 schema:affiliation https://www.grid.ac/institutes/grid.241116.1
234 schema:familyName Collins
235 schema:givenName Abigail
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154661444.91
237 rdf:type schema:Person
238 sg:person.01163661643.17 schema:affiliation N592524166ce9450f9ee205d8d44a9cec
239 schema:familyName Segel
240 schema:givenName Reeval
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01163661643.17
242 rdf:type schema:Person
243 sg:person.01225430011.48 schema:affiliation https://www.grid.ac/institutes/grid.411657.0
244 schema:familyName Tarnopolsky
245 schema:givenName Mark
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225430011.48
247 rdf:type schema:Person
248 sg:person.01231345512.97 schema:affiliation https://www.grid.ac/institutes/grid.414148.c
249 schema:familyName Boycott
250 schema:givenName Kym M.
251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231345512.97
252 rdf:type schema:Person
253 sg:person.01302370213.32 schema:affiliation https://www.grid.ac/institutes/grid.427669.8
254 schema:familyName Harper
255 schema:givenName Amy D.
256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302370213.32
257 rdf:type schema:Person
258 sg:person.01325450216.42 schema:affiliation https://www.grid.ac/institutes/grid.267308.8
259 schema:familyName Koenig
260 schema:givenName Mary Kay
261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01325450216.42
262 rdf:type schema:Person
263 sg:person.01327354306.54 schema:affiliation Na46480bc7a924cddb445787e390bba0c
264 schema:familyName Kamien
265 schema:givenName Benjamin
266 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01327354306.54
267 rdf:type schema:Person
268 sg:person.0577526571.24 schema:affiliation https://www.grid.ac/institutes/grid.414148.c
269 schema:familyName Zambonin
270 schema:givenName Jessica L.
271 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577526571.24
272 rdf:type schema:Person
273 sg:person.0606024306.21 schema:affiliation https://www.grid.ac/institutes/grid.266842.c
274 schema:familyName Dudding-Byth
275 schema:givenName Tracy
276 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606024306.21
277 rdf:type schema:Person
278 sg:person.0615724561.93 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
279 schema:familyName Jones
280 schema:givenName Julie R.
281 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0615724561.93
282 rdf:type schema:Person
283 sg:person.0637066640.38 schema:affiliation https://www.grid.ac/institutes/grid.414148.c
284 schema:familyName Geraghty
285 schema:givenName Michael T.
286 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0637066640.38
287 rdf:type schema:Person
288 sg:person.0641553157.15 schema:affiliation https://www.grid.ac/institutes/grid.414148.c
289 schema:familyName Kernohan
290 schema:givenName Kristin
291 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641553157.15
292 rdf:type schema:Person
293 sg:person.0707220737.64 schema:affiliation https://www.grid.ac/institutes/grid.418307.9
294 schema:familyName Everman
295 schema:givenName David B.
296 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707220737.64
297 rdf:type schema:Person
298 sg:person.0727654476.23 schema:affiliation https://www.grid.ac/institutes/grid.414148.c
299 schema:familyName Lines
300 schema:givenName Matthew
301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0727654476.23
302 rdf:type schema:Person
303 sg:person.0734545227.43 schema:affiliation https://www.grid.ac/institutes/grid.414148.c
304 schema:familyName Vanstone
305 schema:givenName Jason R.
306 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0734545227.43
307 rdf:type schema:Person
308 sg:pub.10.1007/s00415-015-7705-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019801632
309 https://doi.org/10.1007/s00415-015-7705-8
310 rdf:type schema:CreativeWork
311 sg:pub.10.1038/gim.2014.154 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027316421
312 https://doi.org/10.1038/gim.2014.154
313 rdf:type schema:CreativeWork
314 sg:pub.10.1186/1750-1172-7-67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018737879
315 https://doi.org/10.1186/1750-1172-7-67
316 rdf:type schema:CreativeWork
317 sg:pub.10.1186/s40673-016-0040-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051477222
318 https://doi.org/10.1186/s40673-016-0040-8
319 rdf:type schema:CreativeWork
320 https://doi.org/10.1001/archneur.1989.00520410118036 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009754929
321 rdf:type schema:CreativeWork
322 https://doi.org/10.1001/archneur.63.4.594 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023218041
323 rdf:type schema:CreativeWork
324 https://doi.org/10.1001/jamaneurol.2014.1944 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019072833
325 rdf:type schema:CreativeWork
326 https://doi.org/10.1002/ajmg.a.37962 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028288958
327 rdf:type schema:CreativeWork
328 https://doi.org/10.1002/ana.410170417 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052276168
329 rdf:type schema:CreativeWork
330 https://doi.org/10.1002/humu.22451 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019264542
331 rdf:type schema:CreativeWork
332 https://doi.org/10.1016/0387-7604(93)90124-q schema:sameAs https://app.dimensions.ai/details/publication/pub.1024410739
333 rdf:type schema:CreativeWork
334 https://doi.org/10.1016/0887-8994(87)90008-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035990525
335 rdf:type schema:CreativeWork
336 https://doi.org/10.1016/j.ajhg.2016.03.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009278714
337 rdf:type schema:CreativeWork
338 https://doi.org/10.1016/j.ajhg.2016.03.018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020866916
339 rdf:type schema:CreativeWork
340 https://doi.org/10.1016/j.bbrc.2011.06.043 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016637309
341 rdf:type schema:CreativeWork
342 https://doi.org/10.1016/j.celrep.2015.07.023 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031639899
343 rdf:type schema:CreativeWork
344 https://doi.org/10.1016/j.ncl.2013.04.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006244034
345 rdf:type schema:CreativeWork
346 https://doi.org/10.1016/j.neuint.2016.01.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042710587
347 rdf:type schema:CreativeWork
348 https://doi.org/10.1016/s0387-7604(98)00019-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015618963
349 rdf:type schema:CreativeWork
350 https://doi.org/10.1016/s0887-8994(96)00220-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021158192
351 rdf:type schema:CreativeWork
352 https://doi.org/10.1055/s-2008-1071342 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057562696
353 rdf:type schema:CreativeWork
354 https://doi.org/10.1093/brain/awv117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046633376
355 rdf:type schema:CreativeWork
356 https://doi.org/10.1111/cge.12783 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015566919
357 rdf:type schema:CreativeWork
358 https://doi.org/10.1111/j.1469-8749.1998.tb15438.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1024532683
359 rdf:type schema:CreativeWork
360 https://doi.org/10.1177/088307389100600104 schema:sameAs https://app.dimensions.ai/details/publication/pub.1063855918
361 rdf:type schema:CreativeWork
362 https://doi.org/10.1212/01.wnl.0000147299.80872.d1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064346632
363 rdf:type schema:CreativeWork
364 https://doi.org/10.1212/01.wnl.0000311277.71046.a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064350201
365 rdf:type schema:CreativeWork
366 https://doi.org/10.1373/clinchem.2009.124958 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032627625
367 rdf:type schema:CreativeWork
368 https://www.grid.ac/institutes/grid.1005.4 schema:alternateName UNSW Australia
369 schema:name Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia
370 University of New South Wales, Randwick, Sydney, Australia
371 rdf:type schema:Organization
372 https://www.grid.ac/institutes/grid.19006.3e schema:alternateName University of California Los Angeles
373 schema:name Program in Neurogenetics, Departments of Neurology and Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA
374 rdf:type schema:Organization
375 https://www.grid.ac/institutes/grid.241116.1 schema:alternateName University of Colorado Denver
376 schema:name Department of Neurology, Children’s Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA
377 Departments of Pediatrics and Neurology, Children’s Hospital Colorado, University of Colorado, Denver, School of Medicine, Aurora, CO, USA
378 rdf:type schema:Organization
379 https://www.grid.ac/institutes/grid.266842.c schema:alternateName University of Newcastle Australia
380 schema:name University of Newcastle Australia, Grow Up Well Priority Research Centre & Hunter Genetics & NSW Genetics of Learning Disability (GOLD) Service, Waratah, NSW, Australia
381 rdf:type schema:Organization
382 https://www.grid.ac/institutes/grid.267308.8 schema:alternateName The University of Texas Health Science Center at Houston
383 schema:name University of Texas Health Science Center at Houston, Houston, TX, USA
384 rdf:type schema:Organization
385 https://www.grid.ac/institutes/grid.411657.0 schema:alternateName McMaster University Medical Centre
386 schema:name Department of Pediatrics, Division of Neuromuscular and Neurometabolic Diseases, McMaster University Medical Centre, Hamilton, ON, Canada
387 rdf:type schema:Organization
388 https://www.grid.ac/institutes/grid.414148.c schema:alternateName Children's Hospital of Eastern Ontario
389 schema:name Children’s Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada
390 Department of Genetics, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada
391 rdf:type schema:Organization
392 https://www.grid.ac/institutes/grid.418307.9 schema:alternateName Greenwood Genetic Center
393 schema:name Greenwood Genetic Center, Greenwood, SC, USA
394 rdf:type schema:Organization
395 https://www.grid.ac/institutes/grid.427669.8 schema:alternateName Carolinas Healthcare System
396 schema:name Carolinas Healthcare System, Charlotte, NC, USA
397 rdf:type schema:Organization
 




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


...