View in EDS PDF Full Text

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Saved in:
Bibliographic Details
Title: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Authors: Kurtovic-Kozaric A; Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA., Singer-Berk M; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Wood J; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Evangelista E; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA., Panwala L; The INADcure Foundation, Fairfield, NJ, 07004, USA., Hope A; The INADcure Foundation, Fairfield, NJ, 07004, USA., Heinrich SM; Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA., Baxter S; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA. samantha@broadinstitute.org., Kiel MJ; Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA. kiel@genomenon.com.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 18; Vol. 19 (1), pp. 388. Date of Electronic Publication: 2024 Oct 18.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 39425167
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Kurtovic-Kozaric+A%22">Kurtovic-Kozaric A</searchLink>; Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA.<br /><searchLink fieldCode="AU" term="%22Wood+J%22">Wood J</searchLink>; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA.<br /><searchLink fieldCode="AU" term="%22Evangelista+E%22">Evangelista E</searchLink>; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA.<br /><searchLink fieldCode="AU" term="%22Panwala+L%22">Panwala L</searchLink>; The INADcure Foundation, Fairfield, NJ, 07004, USA.<br /><searchLink fieldCode="AU" term="%22Hope+A%22">Hope A</searchLink>; The INADcure Foundation, Fairfield, NJ, 07004, USA.<br /><searchLink fieldCode="AU" term="%22Heinrich+SM%22">Heinrich SM</searchLink>; Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA.<br /><searchLink fieldCode="AU" term="%22Baxter+S%22">Baxter S</searchLink>; Broad Institute of MIT and Harvard, Cambridge, MA, 02141, USA. samantha@broadinstitute.org.<br /><searchLink fieldCode="AU" term="%22Kiel+MJ%22">Kiel MJ</searchLink>; Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA. kiel@genomenon.com.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2024 Oct 18; Vol. 19 (1), pp. 388. <i>Date of Electronic Publication: </i>2024 Oct 18.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39425167
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s13023-024-03275-x
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 388
    Titles:
      – TitleFull: An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Kurtovic-Kozaric A
      – PersonEntity:
          Name:
            NameFull: Singer-Berk M
      – PersonEntity:
          Name:
            NameFull: Wood J
      – PersonEntity:
          Name:
            NameFull: Evangelista E
      – PersonEntity:
          Name:
            NameFull: Panwala L
      – PersonEntity:
          Name:
            NameFull: Hope A
      – PersonEntity:
          Name:
            NameFull: Heinrich SM
      – PersonEntity:
          Name:
            NameFull: Baxter S
      – PersonEntity:
          Name:
            NameFull: Kiel MJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 18
              M: 10
              Text: 2024 Oct 18
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1750-1172
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Orphanet journal of rare diseases
              Type: main
ResultId 1