View in EDS HTML Full Text PDF Full Text

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Saved in:
Bibliographic Details
Title: Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Authors: Ranta-Aho J; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Felice KJ; Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA., Jonson PH; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Sarparanta J; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Yvorel C; Cardiology Department, Hôpital Nord, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Harzallah I; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Touraine R; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 2 Brookline Place, Boston, Massachusetts, 02445, USA., Austin-Tse CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Department of Neurology, Brigham and Women's Hospital, 60 Fenwood Road, Boston, Massachusetts, 02115, USA., O'Leary MC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA., Hehir MK; Department of Neurology, Larner College of Medicine at the University of Vermont, 149 Beaumont Avenue, Burlington, Vermont, 05405, USA., Subramony S; Department of Neurology, University of Florida College of Medicine, 1505 SW Archer Road, Gainesville, Florida, 32610, USA., Wu Q; Department of Pathology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, Connecticut, 06030, USA., Udd B; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital, Biokatu 8, Tampere, 33520, Finland., Savarese M; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.
Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2392-2405. Date of Electronic Publication: 2024 Aug 02.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol 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: 39095936
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ranta-Aho+J%22">Ranta-Aho J</searchLink>; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.<br /><searchLink fieldCode="AU" term="%22Felice+KJ%22">Felice KJ</searchLink>; Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA.<br /><searchLink fieldCode="AU" term="%22Jonson+PH%22">Jonson PH</searchLink>; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.<br /><searchLink fieldCode="AU" term="%22Sarparanta+J%22">Sarparanta J</searchLink>; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.<br /><searchLink fieldCode="AU" term="%22Yvorel+C%22">Yvorel C</searchLink>; Cardiology Department, Hôpital Nord, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France.<br /><searchLink fieldCode="AU" term="%22Harzallah+I%22">Harzallah I</searchLink>; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France.<br /><searchLink fieldCode="AU" term="%22Touraine+R%22">Touraine R</searchLink>; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France.<br /><searchLink fieldCode="AU" term="%22Pais+L%22">Pais L</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 2 Brookline Place, Boston, Massachusetts, 02445, USA.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+CA%22">Austin-Tse CA</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Department of Neurology, Brigham and Women's Hospital, 60 Fenwood Road, Boston, Massachusetts, 02115, USA.<br /><searchLink fieldCode="AU" term="%22O'Leary+MC%22">O'Leary MC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA.<br /><searchLink fieldCode="AU" term="%22Hehir+MK%22">Hehir MK</searchLink>; Department of Neurology, Larner College of Medicine at the University of Vermont, 149 Beaumont Avenue, Burlington, Vermont, 05405, USA.<br /><searchLink fieldCode="AU" term="%22Subramony+S%22">Subramony S</searchLink>; Department of Neurology, University of Florida College of Medicine, 1505 SW Archer Road, Gainesville, Florida, 32610, USA.<br /><searchLink fieldCode="AU" term="%22Wu+Q%22">Wu Q</searchLink>; Department of Pathology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, Connecticut, 06030, USA.<br /><searchLink fieldCode="AU" term="%22Udd+B%22">Udd B</searchLink>; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital, Biokatu 8, Tampere, 33520, Finland.<br /><searchLink fieldCode="AU" term="%22Savarese+M%22">Savarese M</searchLink>; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101623278%22">Annals of clinical and translational neurology</searchLink> [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2392-2405. <i>Date of Electronic Publication: </i>2024 Aug 02.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley+Periodicals%2C+Inc+on+behalf+of+American+Neurological+Association%22">Wiley Periodicals, Inc on behalf of American Neurological Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101623278 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2328-9503 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223289503%22">23289503 </searchLink><i>NLM ISO Abbreviation: </i>Ann Clin Transl Neurol <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39095936
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/acn3.52154
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 2392
    Titles:
      – TitleFull: Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ranta-Aho J
      – PersonEntity:
          Name:
            NameFull: Felice KJ
      – PersonEntity:
          Name:
            NameFull: Jonson PH
      – PersonEntity:
          Name:
            NameFull: Sarparanta J
      – PersonEntity:
          Name:
            NameFull: Yvorel C
      – PersonEntity:
          Name:
            NameFull: Harzallah I
      – PersonEntity:
          Name:
            NameFull: Touraine R
      – PersonEntity:
          Name:
            NameFull: Pais L
      – PersonEntity:
          Name:
            NameFull: Austin-Tse CA
      – PersonEntity:
          Name:
            NameFull: Ganesh VS
      – PersonEntity:
          Name:
            NameFull: O'Leary MC
      – PersonEntity:
          Name:
            NameFull: Rehm HL
      – PersonEntity:
          Name:
            NameFull: Hehir MK
      – PersonEntity:
          Name:
            NameFull: Subramony S
      – PersonEntity:
          Name:
            NameFull: Wu Q
      – PersonEntity:
          Name:
            NameFull: Udd B
      – PersonEntity:
          Name:
            NameFull: Savarese M
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2024 Sep
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 2328-9503
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 9
          Titles:
            – TitleFull: Annals of clinical and translational neurology
              Type: main
ResultId 1