View in EDS HTML Full Text PDF Full Text

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Saved in:
Bibliographic Details
Title: Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
Authors: Cafournet, Cérane1 (AUTHOR), Zanin, Sofia1 (AUTHOR), Guimier, Anne2,3 (AUTHOR), Hully, Marie4 (AUTHOR), Assouline, Zahra5 (AUTHOR), Barcia, Giulia5 (AUTHOR), de Lonlay, Pascale6 (AUTHOR), Steffann, Julie1,5 (AUTHOR), Munnich, Arnold1 (AUTHOR), Bonnefont, Jean-Paul1,5 (AUTHOR), Rötig, Agnès1 (AUTHOR), Ruzzenente, Benedetta1 (AUTHOR), Metodiev, Metodi D.1 (AUTHOR) metodi.metodiev@inserm.fr
Source: Life (2075-1729). Feb2023, Vol. 13 Issue 2, p445. 12p.
Database: Academic Search Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 162135472
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Cafournet%2C+Cérane%22">Cafournet, Cérane</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zanin%2C+Sofia%22">Zanin, Sofia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guimier%2C+Anne%22">Guimier, Anne</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hully%2C+Marie%22">Hully, Marie</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Assouline%2C+Zahra%22">Assouline, Zahra</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Barcia%2C+Giulia%22">Barcia, Giulia</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22de+Lonlay%2C+Pascale%22">de Lonlay, Pascale</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Steffann%2C+Julie%22">Steffann, Julie</searchLink><relatesTo>1,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Munnich%2C+Arnold%22">Munnich, Arnold</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bonnefont%2C+Jean-Paul%22">Bonnefont, Jean-Paul</searchLink><relatesTo>1,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rötig%2C+Agnès%22">Rötig, Agnès</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ruzzenente%2C+Benedetta%22">Ruzzenente, Benedetta</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Metodiev%2C+Metodi+D%2E%22">Metodiev, Metodi D.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> metodi.metodiev@inserm.fr</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Life+%282075-1729%29%22">Life (2075-1729)</searchLink>. Feb2023, Vol. 13 Issue 2, p445. 12p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=162135472
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/life13020445
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 12
        StartPage: 445
    Titles:
      – TitleFull: Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Cafournet, Cérane
      – PersonEntity:
          Name:
            NameFull: Zanin, Sofia
      – PersonEntity:
          Name:
            NameFull: Guimier, Anne
      – PersonEntity:
          Name:
            NameFull: Hully, Marie
      – PersonEntity:
          Name:
            NameFull: Assouline, Zahra
      – PersonEntity:
          Name:
            NameFull: Barcia, Giulia
      – PersonEntity:
          Name:
            NameFull: de Lonlay, Pascale
      – PersonEntity:
          Name:
            NameFull: Steffann, Julie
      – PersonEntity:
          Name:
            NameFull: Munnich, Arnold
      – PersonEntity:
          Name:
            NameFull: Bonnefont, Jean-Paul
      – PersonEntity:
          Name:
            NameFull: Rötig, Agnès
      – PersonEntity:
          Name:
            NameFull: Ruzzenente, Benedetta
      – PersonEntity:
          Name:
            NameFull: Metodiev, Metodi D.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: Feb2023
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-print
              Value: 20751729
          Numbering:
            – Type: volume
              Value: 13
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Life (2075-1729)
              Type: main
ResultId 1