View in EDS

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Saved in:
Bibliographic Details
Title: Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Authors: Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Zonnekein N; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Amor-Barris S; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Pelayo-Negro AL; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Atkinson D; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Turchetti V; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Dinopoulos A; 3rd Department of Pediatrics, Attiko Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Garcia A; Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Moris G; Service of Neurology, University Hospital Central de Asturias, University of Oviedo, Oviedo, Spain., Polat AI; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Yiş U; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey., Espinos C; Rare Neurodegenerative Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), CIBER on Rare Diseases (CIBERER), Valencia, Spain., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium., De Vriendt E; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Karadima G; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany., Hanna M; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom., Berciano J; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain., Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria. Electronic address: albena.jordanova@uantwerpen.be.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101117. Date of Electronic Publication: 2024 Mar 06.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 38459834
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Armirola-Ricaurte+C%22">Armirola-Ricaurte C</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Zonnekein+N%22">Zonnekein N</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Koutsis+G%22">Koutsis G</searchLink>; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Amor-Barris+S%22">Amor-Barris S</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Pelayo-Negro+AL%22">Pelayo-Negro AL</searchLink>; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.<br /><searchLink fieldCode="AU" term="%22Atkinson+D%22">Atkinson D</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Efthymiou+S%22">Efthymiou S</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Turchetti+V%22">Turchetti V</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Dinopoulos+A%22">Dinopoulos A</searchLink>; 3rd Department of Pediatrics, Attiko Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Garcia+A%22">Garcia A</searchLink>; Service of Clinical Neurophysiology, University Hospital Marqués de Valdecilla, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.<br /><searchLink fieldCode="AU" term="%22Karakaya+M%22">Karakaya M</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Moris+G%22">Moris G</searchLink>; Service of Neurology, University Hospital Central de Asturias, University of Oviedo, Oviedo, Spain.<br /><searchLink fieldCode="AU" term="%22Polat+AI%22">Polat AI</searchLink>; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Yiş+U%22">Yiş U</searchLink>; Department of Pediatric Neurology, Dokuz Eylül University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Espinos+C%22">Espinos C</searchLink>; Rare Neurodegenerative Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), CIBER on Rare Diseases (CIBERER), Valencia, Spain.<br /><searchLink fieldCode="AU" term="%22Van+de+Vondel+L%22">Van de Vondel L</searchLink>; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Vriendt+E%22">De Vriendt E</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Karadima+G%22">Karadima G</searchLink>; Neurogenetics Unit, 1st Department of Neurology, Eginitio Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Wirth+B%22">Wirth B</searchLink>; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases, University Hospital of Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Hanna+M%22">Hanna M</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Berciano+J%22">Berciano J</searchLink>; University Hospital Marqués de Valdecilla (IFIMAV), University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Santander, Spain.<br /><searchLink fieldCode="AU" term="%22Jordanova+A%22">Jordanova A</searchLink>; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria. Electronic address: albena.jordanova@uantwerpen.be.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101117. <i>Date of Electronic Publication: </i>2024 Mar 06.
– 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38459834
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.gim.2024.101117
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 101117
    Titles:
      – TitleFull: Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Armirola-Ricaurte C
      – PersonEntity:
          Name:
            NameFull: Zonnekein N
      – PersonEntity:
          Name:
            NameFull: Koutsis G
      – PersonEntity:
          Name:
            NameFull: Amor-Barris S
      – PersonEntity:
          Name:
            NameFull: Pelayo-Negro AL
      – PersonEntity:
          Name:
            NameFull: Atkinson D
      – PersonEntity:
          Name:
            NameFull: Efthymiou S
      – PersonEntity:
          Name:
            NameFull: Turchetti V
      – PersonEntity:
          Name:
            NameFull: Dinopoulos A
      – PersonEntity:
          Name:
            NameFull: Garcia A
      – PersonEntity:
          Name:
            NameFull: Karakaya M
      – PersonEntity:
          Name:
            NameFull: Moris G
      – PersonEntity:
          Name:
            NameFull: Polat AI
      – PersonEntity:
          Name:
            NameFull: Yiş U
      – PersonEntity:
          Name:
            NameFull: Espinos C
      – PersonEntity:
          Name:
            NameFull: Van de Vondel L
      – PersonEntity:
          Name:
            NameFull: De Vriendt E
      – PersonEntity:
          Name:
            NameFull: Karadima G
      – PersonEntity:
          Name:
            NameFull: Wirth B
      – PersonEntity:
          Name:
            NameFull: Hanna M
      – PersonEntity:
          Name:
            NameFull: Houlden H
      – PersonEntity:
          Name:
            NameFull: Berciano J
      – PersonEntity:
          Name:
            NameFull: Jordanova A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2024 Jun
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 26
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1