Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Saved in:
Bibliographic Details
Title: Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Authors: Mohan S; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., McNulty S; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Thaxton C; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Elnagheeb M; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Owens E; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Flowers M; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Nunnery T; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Self A; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Palus B; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA., Gorokhova S; Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France., Kennedy A; Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Ontario, Canada., Niu Z; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Maiga AB; Department of Medicine, University of Sciences, Techniques and Technologies of Bamako, Bamako, Mali., Macalalad K; Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA., Clause AR; Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA., Beckmann JS; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Bronicki L; Department of clinical genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Cooper ST; Kids Neuroscience Centre, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia., Ganesh VS; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA., Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA., Kesari A; Illumina Inc, San Diego, California, USA., Lek M; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Levy J; Coalition to Cure Calpain 3, Westport, Connecticut, USA., Rufibach L; Jain Foundation, Seattle, Washington, USA., Savarese M; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Spencer MJ; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK., Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK., Weihl CC; Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.
Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2268-2276. Date of Electronic Publication: 2024 Aug 30.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39215466
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Mohan+S%22">Mohan S</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22McNulty+S%22">McNulty S</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Thaxton+C%22">Thaxton C</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Elnagheeb+M%22">Elnagheeb M</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Owens+E%22">Owens E</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Flowers+M%22">Flowers M</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Nunnery+T%22">Nunnery T</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Self+A%22">Self A</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Palus+B%22">Palus B</searchLink>; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Gorokhova+S%22">Gorokhova S</searchLink>; Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.; Department of Medical Genetics, Timone Children's Hospital, APHM, Marseille, France.<br /><searchLink fieldCode="AU" term="%22Kennedy+A%22">Kennedy A</searchLink>; Division of Clinical Pharmacology and Toxicology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Niu+Z%22">Niu Z</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Johari+M%22">Johari M</searchLink>; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Maiga+AB%22">Maiga AB</searchLink>; Department of Medicine, University of Sciences, Techniques and Technologies of Bamako, Bamako, Mali.<br /><searchLink fieldCode="AU" term="%22Macalalad+K%22">Macalalad K</searchLink>; Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Clause+AR%22">Clause AR</searchLink>; Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Beckmann+JS%22">Beckmann JS</searchLink>; Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bronicki+L%22">Bronicki L</searchLink>; Department of clinical genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Cooper+ST%22">Cooper ST</searchLink>; Kids Neuroscience Centre, Children's Hospital at Westmead, Westmead, New South Wales, Australia.; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Westmead, New South Wales, Australia.; Functional Neuromics, Children's Medical Research Institute, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Kang+PB%22">Kang PB</searchLink>; Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota, Minneapolis, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Kesari+A%22">Kesari A</searchLink>; Illumina Inc, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Lek+M%22">Lek M</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Coalition to Cure Calpain 3, Westport, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Rufibach+L%22">Rufibach L</searchLink>; Jain Foundation, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Savarese+M%22">Savarese M</searchLink>; Folkhälsan Research Center, Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Spencer+MJ%22">Spencer MJ</searchLink>; Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Tasca+G%22">Tasca G</searchLink>; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Weihl+CC%22">Weihl CC</searchLink>; Department of Neurology, Washington University School of Medicine in St. Louis, St Louis, Missouri, USA.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101623278%22">Annals of clinical and translational neurology</searchLink> [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2268-2276. <i>Date of Electronic Publication: </i>2024 Aug 30.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley+Periodicals%2C+Inc+on+behalf+of+American+Neurological+Association%22">Wiley Periodicals, Inc on behalf of American Neurological Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101623278 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2328-9503 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223289503%22">23289503 </searchLink><i>NLM ISO Abbreviation: </i>Ann Clin Transl Neurol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39215466
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/acn3.52127
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2268
    Titles:
      – TitleFull: Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mohan S
      – PersonEntity:
          Name:
            NameFull: McNulty S
      – PersonEntity:
          Name:
            NameFull: Thaxton C
      – PersonEntity:
          Name:
            NameFull: Elnagheeb M
      – PersonEntity:
          Name:
            NameFull: Owens E
      – PersonEntity:
          Name:
            NameFull: Flowers M
      – PersonEntity:
          Name:
            NameFull: Nunnery T
      – PersonEntity:
          Name:
            NameFull: Self A
      – PersonEntity:
          Name:
            NameFull: Palus B
      – PersonEntity:
          Name:
            NameFull: Gorokhova S
      – PersonEntity:
          Name:
            NameFull: Kennedy A
      – PersonEntity:
          Name:
            NameFull: Niu Z
      – PersonEntity:
          Name:
            NameFull: Johari M
      – PersonEntity:
          Name:
            NameFull: Maiga AB
      – PersonEntity:
          Name:
            NameFull: Macalalad K
      – PersonEntity:
          Name:
            NameFull: Clause AR
      – PersonEntity:
          Name:
            NameFull: Beckmann JS
      – PersonEntity:
          Name:
            NameFull: Bronicki L
      – PersonEntity:
          Name:
            NameFull: Cooper ST
      – PersonEntity:
          Name:
            NameFull: Ganesh VS
      – PersonEntity:
          Name:
            NameFull: Kang PB
      – PersonEntity:
          Name:
            NameFull: Kesari A
      – PersonEntity:
          Name:
            NameFull: Lek M
      – PersonEntity:
          Name:
            NameFull: Levy J
      – PersonEntity:
          Name:
            NameFull: Rufibach L
      – PersonEntity:
          Name:
            NameFull: Savarese M
      – PersonEntity:
          Name:
            NameFull: Spencer MJ
      – PersonEntity:
          Name:
            NameFull: Straub V
      – PersonEntity:
          Name:
            NameFull: Tasca G
      – PersonEntity:
          Name:
            NameFull: Weihl CC
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2024 Sep
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2328-9503
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: Annals of clinical and translational neurology
              Type: main
ResultId 1