View in EDS HTML Full Text PDF Full Text

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.

Saved in:
Bibliographic Details
Title: Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
Authors: Helman G; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia., Takanohashi A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hagemann TL; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin., Perng MD; Institute of Molecular Medicine, College of Life Sciences, National Tsing Hua University, Hsinchu, Taiwan., Walkiewicz M; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Sase S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cross Z; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Du Y; Department of Pathology and Laboratory Medicine, Human Immunology Core, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Zhao L; Department of Pathology and Laboratory Medicine, Human Immunology Core, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Waldman A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Haake BC; Regions Hospital, Saint Paul, Minnesota., Fatemi A; Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland., Brenner M; Department of Neurobiology, University of Alabama at Birmingham, Birmingham, Alabama., Sherbini O; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Messing A; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Simons C; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
Source: Human mutation [Hum Mutat] 2020 Jun; Vol. 41 (6), pp. 1131-1137. Date of Electronic Publication: 2020 Mar 11.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat 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: 32126152
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Helman+G%22">Helman G</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Takanohashi+A%22">Takanohashi A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Hagemann+TL%22">Hagemann TL</searchLink>; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.<br /><searchLink fieldCode="AU" term="%22Perng+MD%22">Perng MD</searchLink>; Institute of Molecular Medicine, College of Life Sciences, National Tsing Hua University, Hsinchu, Taiwan.<br /><searchLink fieldCode="AU" term="%22Walkiewicz+M%22">Walkiewicz M</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.<br /><searchLink fieldCode="AU" term="%22Woidill+S%22">Woidill S</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Sase+S%22">Sase S</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Cross+Z%22">Cross Z</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Du+Y%22">Du Y</searchLink>; Department of Pathology and Laboratory Medicine, Human Immunology Core, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Zhao+L%22">Zhao L</searchLink>; Department of Pathology and Laboratory Medicine, Human Immunology Core, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Waldman+A%22">Waldman A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Haake+BC%22">Haake BC</searchLink>; Regions Hospital, Saint Paul, Minnesota.<br /><searchLink fieldCode="AU" term="%22Fatemi+A%22">Fatemi A</searchLink>; Moser Center for Leukodystrophies, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland.<br /><searchLink fieldCode="AU" term="%22Brenner+M%22">Brenner M</searchLink>; Department of Neurobiology, University of Alabama at Birmingham, Birmingham, Alabama.<br /><searchLink fieldCode="AU" term="%22Sherbini+O%22">Sherbini O</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Messing+A%22">Messing A</searchLink>; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin.; Department of Comparative Biosciences, University of Wisconsin-Madison, Madison, Wisconsin.<br /><searchLink fieldCode="AU" term="%22Vanderver+A%22">Vanderver A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Simons+C%22">Simons C</searchLink>; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Melbourne, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Jun; Vol. 41 (6), pp. 1131-1137. <i>Date of Electronic Publication: </i>2020 Mar 11.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32126152
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/humu.24008
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1131
    Titles:
      – TitleFull: Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Helman G
      – PersonEntity:
          Name:
            NameFull: Takanohashi A
      – PersonEntity:
          Name:
            NameFull: Hagemann TL
      – PersonEntity:
          Name:
            NameFull: Perng MD
      – PersonEntity:
          Name:
            NameFull: Walkiewicz M
      – PersonEntity:
          Name:
            NameFull: Woidill S
      – PersonEntity:
          Name:
            NameFull: Sase S
      – PersonEntity:
          Name:
            NameFull: Cross Z
      – PersonEntity:
          Name:
            NameFull: Du Y
      – PersonEntity:
          Name:
            NameFull: Zhao L
      – PersonEntity:
          Name:
            NameFull: Waldman A
      – PersonEntity:
          Name:
            NameFull: Haake BC
      – PersonEntity:
          Name:
            NameFull: Fatemi A
      – PersonEntity:
          Name:
            NameFull: Brenner M
      – PersonEntity:
          Name:
            NameFull: Sherbini O
      – PersonEntity:
          Name:
            NameFull: Messing A
      – PersonEntity:
          Name:
            NameFull: Vanderver A
      – PersonEntity:
          Name:
            NameFull: Simons C
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2020 Jun
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 41
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1