View in EDS HTML Full Text PDF Full Text

Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.

Saved in:
Bibliographic Details
Title: Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Authors: Papadopoulos C; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece., Malfatti E; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Université Paris Est, U955 INSERM, EnvA, EFS, IMRB, F-94010 and APHP, Henri Mondor Hospital, 94010 Créteil, France., Métay C; APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, INSERM, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Sorbonne Université, 75013 Paris, France., Keren B; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France., Lejeune E; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France., Buratti J; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France., Xirou S; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece., Chrysanthou-Piterou M; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece., Papadimas GK; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jul 06; Vol. 24 (13). Date of Electronic Publication: 2023 Jul 06.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci 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: 37446359
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Papadopoulos+C%22">Papadopoulos C</searchLink>; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Malfatti+E%22">Malfatti E</searchLink>; Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Université Paris Est, U955 INSERM, EnvA, EFS, IMRB, F-94010 and APHP, Henri Mondor Hospital, 94010 Créteil, France.<br /><searchLink fieldCode="AU" term="%22Métay+C%22">Métay C</searchLink>; APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Centre de Génétique Moléculaire et Chromosomique, INSERM, Institut de Myologie, Groupe Hospitalier La Pitié-Salpêtrière-Charles Foix, Sorbonne Université, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Lejeune+E%22">Lejeune E</searchLink>; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; APHP, Centre de Génétique Moléculaire et Chromosomique, UF Génétique du Développement, GH Pitié-Salpêtrière, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Xirou+S%22">Xirou S</searchLink>; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Chrysanthou-Piterou+M%22">Chrysanthou-Piterou M</searchLink>; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Papadimas+GK%22">Papadimas GK</searchLink>; First Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, ERN, EURO NMD, 11528 Athens, Greece.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2023 Jul 06; Vol. 24 (13). <i>Date of Electronic Publication: </i>2023 Jul 06.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101092791 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1422-0067 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214220067%22">14220067 </searchLink><i>NLM ISO Abbreviation: </i>Int J Mol Sci <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37446359
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/ijms241311181
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Papadopoulos C
      – PersonEntity:
          Name:
            NameFull: Malfatti E
      – PersonEntity:
          Name:
            NameFull: Métay C
      – PersonEntity:
          Name:
            NameFull: Keren B
      – PersonEntity:
          Name:
            NameFull: Lejeune E
      – PersonEntity:
          Name:
            NameFull: Buratti J
      – PersonEntity:
          Name:
            NameFull: Xirou S
      – PersonEntity:
          Name:
            NameFull: Chrysanthou-Piterou M
      – PersonEntity:
          Name:
            NameFull: Papadimas GK
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 06
              M: 07
              Text: 2023 Jul 06
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1422-0067
          Numbering:
            – Type: volume
              Value: 24
            – Type: issue
              Value: 13
          Titles:
            – TitleFull: International journal of molecular sciences
              Type: main
ResultId 1