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NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.

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Title: NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
Authors: Riso, Vittorio (AUTHOR), Rossi, S. (AUTHOR), Perna, A. (AUTHOR), Nicoletti, T. (AUTHOR), Bosco, L. (AUTHOR), Zanni, G. (AUTHOR), Silvestri, G. (AUTHOR)
Source: Neurological Sciences. Oct2020, Vol. 41 Issue 10, p2989-2991. 3p. 1 Diagram.
Subjects: Spinocerebellar ataxia, Cerebellum degeneration, Ataxia, Tremor, Protein kinase C, Cerebellar ataxia, Friedreich's ataxia
Database: Psychology and Behavioral Sciences Collection
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Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 145625936
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Label: Title
  Group: Ti
  Data: NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
– Name: Author
  Label: Authors
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  Data: <searchLink fieldCode="AR" term="%22Riso%2C+Vittorio%22">Riso, Vittorio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rossi%2C+S%2E%22">Rossi, S.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Perna%2C+A%2E%22">Perna, A.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nicoletti%2C+T%2E%22">Nicoletti, T.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bosco%2C+L%2E%22">Bosco, L.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zanni%2C+G%2E%22">Zanni, G.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Silvestri%2C+G%2E%22">Silvestri, G.</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Oct2020, Vol. 41 Issue 10, p2989-2991. 3p. 1 Diagram.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Spinocerebellar+ataxia%22">Spinocerebellar ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebellum+degeneration%22">Cerebellum degeneration</searchLink><br /><searchLink fieldCode="DE" term="%22Ataxia%22">Ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Tremor%22">Tremor</searchLink><br /><searchLink fieldCode="DE" term="%22Protein+kinase+C%22">Protein kinase C</searchLink><br /><searchLink fieldCode="DE" term="%22Cerebellar+ataxia%22">Cerebellar ataxia</searchLink><br /><searchLink fieldCode="DE" term="%22Friedreich's+ataxia%22">Friedreich's ataxia</searchLink>
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=145625936
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s10072-020-04443-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 3
        StartPage: 2989
    Subjects:
      – SubjectFull: Spinocerebellar ataxia
        Type: general
      – SubjectFull: Cerebellum degeneration
        Type: general
      – SubjectFull: Ataxia
        Type: general
      – SubjectFull: Tremor
        Type: general
      – SubjectFull: Protein kinase C
        Type: general
      – SubjectFull: Cerebellar ataxia
        Type: general
      – SubjectFull: Friedreich's ataxia
        Type: general
    Titles:
      – TitleFull: NGS-based detection of a novel mutation in PRKCG (SCA14) in sporadic adult-onset ataxia plus dystonic tremor.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Riso, Vittorio
      – PersonEntity:
          Name:
            NameFull: Rossi, S.
      – PersonEntity:
          Name:
            NameFull: Perna, A.
      – PersonEntity:
          Name:
            NameFull: Nicoletti, T.
      – PersonEntity:
          Name:
            NameFull: Bosco, L.
      – PersonEntity:
          Name:
            NameFull: Zanni, G.
      – PersonEntity:
          Name:
            NameFull: Silvestri, G.
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 10
              Text: Oct2020
              Type: published
              Y: 2020
          Identifiers:
            – Type: issn-print
              Value: 15901874
          Numbering:
            – Type: volume
              Value: 41
            – Type: issue
              Value: 10
          Titles:
            – TitleFull: Neurological Sciences
              Type: main
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