View in EDS HTML Full Text PDF Full Text

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

Saved in:
Bibliographic Details
Title: Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Authors: Barbier, Mathieu1 (AUTHOR), Bahlo, Melanie2,3 (AUTHOR), Pennisi, Alessandra4,5 (AUTHOR), Jacoupy, Maxime1 (AUTHOR), Tankard, Rick M.2,3 (AUTHOR), Ewenczyk, Claire1 (AUTHOR), Davies, Kayli C.6,7 (AUTHOR), Lino‐Coulon, Patricia1 (AUTHOR), Colace, Claire1 (AUTHOR), Rafehi, Haloom2,3 (AUTHOR), Auger, Nicolas1,8 (AUTHOR), Ansell, Brendan R. E.2,3 (AUTHOR), van der Stelt, Ivo2,3,9 (AUTHOR), Howell, Katherine B.7,10,11 (AUTHOR), Coutelier, Marie1,8 (AUTHOR), Amor, David J.7,11 (AUTHOR), Mundwiller, Emeline1 (AUTHOR), Guillot‐Noël, Lena1,8 (AUTHOR), Storey, Elsdon12 (AUTHOR), Gardner, R. J. McKinlay13 (AUTHOR)
Source: Annals of Neurology. Jul2022, Vol. 92 Issue 1, p122-137. 16p.
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: 157510086
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Barbier%2C+Mathieu%22">Barbier, Mathieu</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bahlo%2C+Melanie%22">Bahlo, Melanie</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pennisi%2C+Alessandra%22">Pennisi, Alessandra</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Jacoupy%2C+Maxime%22">Jacoupy, Maxime</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tankard%2C+Rick+M%2E%22">Tankard, Rick M.</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ewenczyk%2C+Claire%22">Ewenczyk, Claire</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Davies%2C+Kayli+C%2E%22">Davies, Kayli C.</searchLink><relatesTo>6,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lino‐Coulon%2C+Patricia%22">Lino‐Coulon, Patricia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Colace%2C+Claire%22">Colace, Claire</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rafehi%2C+Haloom%22">Rafehi, Haloom</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Auger%2C+Nicolas%22">Auger, Nicolas</searchLink><relatesTo>1,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ansell%2C+Brendan+R%2E+E%2E%22">Ansell, Brendan R. E.</searchLink><relatesTo>2,3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22van+der+Stelt%2C+Ivo%22">van der Stelt, Ivo</searchLink><relatesTo>2,3,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Howell%2C+Katherine+B%2E%22">Howell, Katherine B.</searchLink><relatesTo>7,10,11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Coutelier%2C+Marie%22">Coutelier, Marie</searchLink><relatesTo>1,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Amor%2C+David+J%2E%22">Amor, David J.</searchLink><relatesTo>7,11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mundwiller%2C+Emeline%22">Mundwiller, Emeline</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Guillot‐Noël%2C+Lena%22">Guillot‐Noël, Lena</searchLink><relatesTo>1,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Storey%2C+Elsdon%22">Storey, Elsdon</searchLink><relatesTo>12</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gardner%2C+R%2E+J%2E+McKinlay%22">Gardner, R. J. McKinlay</searchLink><relatesTo>13</relatesTo> (AUTHOR)
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Annals+of+Neurology%22">Annals of Neurology</searchLink>. Jul2022, Vol. 92 Issue 1, p122-137. 16p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=157510086
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ana.26366
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 16
        StartPage: 122
    Titles:
      – TitleFull: Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Barbier, Mathieu
      – PersonEntity:
          Name:
            NameFull: Bahlo, Melanie
      – PersonEntity:
          Name:
            NameFull: Pennisi, Alessandra
      – PersonEntity:
          Name:
            NameFull: Jacoupy, Maxime
      – PersonEntity:
          Name:
            NameFull: Tankard, Rick M.
      – PersonEntity:
          Name:
            NameFull: Ewenczyk, Claire
      – PersonEntity:
          Name:
            NameFull: Davies, Kayli C.
      – PersonEntity:
          Name:
            NameFull: Lino‐Coulon, Patricia
      – PersonEntity:
          Name:
            NameFull: Colace, Claire
      – PersonEntity:
          Name:
            NameFull: Rafehi, Haloom
      – PersonEntity:
          Name:
            NameFull: Auger, Nicolas
      – PersonEntity:
          Name:
            NameFull: Ansell, Brendan R. E.
      – PersonEntity:
          Name:
            NameFull: van der Stelt, Ivo
      – PersonEntity:
          Name:
            NameFull: Howell, Katherine B.
      – PersonEntity:
          Name:
            NameFull: Coutelier, Marie
      – PersonEntity:
          Name:
            NameFull: Amor, David J.
      – PersonEntity:
          Name:
            NameFull: Mundwiller, Emeline
      – PersonEntity:
          Name:
            NameFull: Guillot‐Noël, Lena
      – PersonEntity:
          Name:
            NameFull: Storey, Elsdon
      – PersonEntity:
          Name:
            NameFull: Gardner, R. J. McKinlay
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: Jul2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 03645134
          Numbering:
            – Type: volume
              Value: 92
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Annals of Neurology
              Type: main
ResultId 1