View in EDS HTML Full Text PDF Full Text

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Saved in:
Bibliographic Details
Title: Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Authors: Mikhalchuk K; Research Centre for Medical Genetics, Moscow, Russia., Zabnenkova V; Research Centre for Medical Genetics, Moscow, Russia., Braslavskaya S; Research Centre for Medical Genetics, Moscow, Russia., Chukhrova A; Research Centre for Medical Genetics, Moscow, Russia., Ryadninskaya N; Research Centre for Medical Genetics, Moscow, Russia., Dadaly E; Research Centre for Medical Genetics, Moscow, Russia., Rudenskaya G; Research Centre for Medical Genetics, Moscow, Russia., Sharkova I; Research Centre for Medical Genetics, Moscow, Russia., Anisimova I; Research Centre for Medical Genetics, Moscow, Russia., Bessonova L; Research Centre for Medical Genetics, Moscow, Russia., Mishina I; Research Centre for Medical Genetics, Moscow, Russia., Repina S; Research Centre for Medical Genetics, Moscow, Russia., Petukhova M; Research Centre for Medical Genetics, Moscow, Russia., Sparber P; Research Centre for Medical Genetics, Moscow, Russia., Kuchina A; Research Centre for Medical Genetics, Moscow, Russia., Saushev D; Research Centre for Medical Genetics, Moscow, Russia., Artemieva S; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia., Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University Named After N.N. Burdenko, Voronezh, Russia.; Saratov State Medical University, Saratov, Russia., Kanivets I; Genomed LLC, Moscow, Russia.; FSBEI FPE RMACPE MOH Russia, Moscow, Russia., Zarubina V; Morozov Children's City Clinical Hospital, Moscow, Russia., Barykova D; State Budgetary Healthcare Institution Irkutsk Order of the Badge Regional Clinical Hospital, Irkutsk, Russia., Lisakonova E; Docdeti LLC, Moscow, Russia., Polyakov A; Research Centre for Medical Genetics, Moscow, Russia., Shchagina O; Research Centre for Medical Genetics, Moscow, Russia.
Source: Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 58-68. Date of Electronic Publication: 2025 Feb 04.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet 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: 39905579
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Mikhalchuk+K%22">Mikhalchuk K</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zabnenkova+V%22">Zabnenkova V</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Braslavskaya+S%22">Braslavskaya S</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chukhrova+A%22">Chukhrova A</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ryadninskaya+N%22">Ryadninskaya N</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Dadaly+E%22">Dadaly E</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Rudenskaya+G%22">Rudenskaya G</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Sharkova+I%22">Sharkova I</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Anisimova+I%22">Anisimova I</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bessonova+L%22">Bessonova L</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Mishina+I%22">Mishina I</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Repina+S%22">Repina S</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Petukhova+M%22">Petukhova M</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Sparber+P%22">Sparber P</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kuchina+A%22">Kuchina A</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Saushev+D%22">Saushev D</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Artemieva+S%22">Artemieva S</searchLink>; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kurbatov+S%22">Kurbatov S</searchLink>; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University Named After N.N. Burdenko, Voronezh, Russia.; Saratov State Medical University, Saratov, Russia.<br /><searchLink fieldCode="AU" term="%22Kanivets+I%22">Kanivets I</searchLink>; Genomed LLC, Moscow, Russia.; FSBEI FPE RMACPE MOH Russia, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zarubina+V%22">Zarubina V</searchLink>; Morozov Children's City Clinical Hospital, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Barykova+D%22">Barykova D</searchLink>; State Budgetary Healthcare Institution Irkutsk Order of the Badge Regional Clinical Hospital, Irkutsk, Russia.<br /><searchLink fieldCode="AU" term="%22Lisakonova+E%22">Lisakonova E</searchLink>; Docdeti LLC, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+A%22">Polyakov A</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+O%22">Shchagina O</searchLink>; Research Centre for Medical Genetics, Moscow, Russia.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 58-68. <i>Date of Electronic Publication: </i>2025 Feb 04.
– 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="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39905579
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1111/cge.14714
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 58
    Titles:
      – TitleFull: Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Mikhalchuk K
      – PersonEntity:
          Name:
            NameFull: Zabnenkova V
      – PersonEntity:
          Name:
            NameFull: Braslavskaya S
      – PersonEntity:
          Name:
            NameFull: Chukhrova A
      – PersonEntity:
          Name:
            NameFull: Ryadninskaya N
      – PersonEntity:
          Name:
            NameFull: Dadaly E
      – PersonEntity:
          Name:
            NameFull: Rudenskaya G
      – PersonEntity:
          Name:
            NameFull: Sharkova I
      – PersonEntity:
          Name:
            NameFull: Anisimova I
      – PersonEntity:
          Name:
            NameFull: Bessonova L
      – PersonEntity:
          Name:
            NameFull: Mishina I
      – PersonEntity:
          Name:
            NameFull: Repina S
      – PersonEntity:
          Name:
            NameFull: Petukhova M
      – PersonEntity:
          Name:
            NameFull: Sparber P
      – PersonEntity:
          Name:
            NameFull: Kuchina A
      – PersonEntity:
          Name:
            NameFull: Saushev D
      – PersonEntity:
          Name:
            NameFull: Artemieva S
      – PersonEntity:
          Name:
            NameFull: Kurbatov S
      – PersonEntity:
          Name:
            NameFull: Kanivets I
      – PersonEntity:
          Name:
            NameFull: Zarubina V
      – PersonEntity:
          Name:
            NameFull: Barykova D
      – PersonEntity:
          Name:
            NameFull: Lisakonova E
      – PersonEntity:
          Name:
            NameFull: Polyakov A
      – PersonEntity:
          Name:
            NameFull: Shchagina O
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2025 Jul
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1399-0004
          Numbering:
            – Type: volume
              Value: 108
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Clinical genetics
              Type: main
ResultId 1