View in EDS HTML Full Text PDF Full Text

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.

Saved in:
Bibliographic Details
Title: Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
Authors: Suetterlin K; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; AGE Research Group, NIHR Newcastle Biomedical Research Centre, Newcastle-upon-Tyne Hospitals NHS Foundation Trust and Newcastle University, Newcastle-upon-Tyne, UK., Matthews E; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Atkinson Morley Neuromuscular Centre, Department of Neurology, St Georges University Hospitals NHS Foundation Trust, London, UK., Sud R; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., McCall S; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., Fialho D; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, King's College Hospital, London, UK., Burge J; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, King's College Hospital, London, UK., Jayaseelan D; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Haworth A; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., Sweeney MG; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK., Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK., Schorge S; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Department of Pharmacology, UCL School of Pharmacy, London, UK., Hanna MG; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK., Männikkö R; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
Source: Brain : a journal of neurology [Brain] 2022 Apr 18; Vol. 145 (2), pp. 607-620.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain 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: 34529042
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Suetterlin+K%22">Suetterlin K</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; AGE Research Group, NIHR Newcastle Biomedical Research Centre, Newcastle-upon-Tyne Hospitals NHS Foundation Trust and Newcastle University, Newcastle-upon-Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Matthews+E%22">Matthews E</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Atkinson Morley Neuromuscular Centre, Department of Neurology, St Georges University Hospitals NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Sud+R%22">Sud R</searchLink>; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22McCall+S%22">McCall S</searchLink>; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Fialho+D%22">Fialho D</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, King's College Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Burge+J%22">Burge J</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, King's College Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Jayaseelan+D%22">Jayaseelan D</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Haworth+A%22">Haworth A</searchLink>; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Sweeney+MG%22">Sweeney MG</searchLink>; Neurogenetics Unit, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Kullmann+DM%22">Kullmann DM</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Schorge+S%22">Schorge S</searchLink>; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; Department of Pharmacology, UCL School of Pharmacy, London, UK.<br /><searchLink fieldCode="AU" term="%22Hanna+MG%22">Hanna MG</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Männikkö+R%22">Männikkö R</searchLink>; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2022 Apr 18; Vol. 145 (2), pp. 607-620.
– 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="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34529042
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awab344
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 607
    Titles:
      – TitleFull: Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Suetterlin K
      – PersonEntity:
          Name:
            NameFull: Matthews E
      – PersonEntity:
          Name:
            NameFull: Sud R
      – PersonEntity:
          Name:
            NameFull: McCall S
      – PersonEntity:
          Name:
            NameFull: Fialho D
      – PersonEntity:
          Name:
            NameFull: Burge J
      – PersonEntity:
          Name:
            NameFull: Jayaseelan D
      – PersonEntity:
          Name:
            NameFull: Haworth A
      – PersonEntity:
          Name:
            NameFull: Sweeney MG
      – PersonEntity:
          Name:
            NameFull: Kullmann DM
      – PersonEntity:
          Name:
            NameFull: Schorge S
      – PersonEntity:
          Name:
            NameFull: Hanna MG
      – PersonEntity:
          Name:
            NameFull: Männikkö R
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 18
              M: 04
              Text: 2022 Apr 18
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 145
            – Type: issue
              Value: 2
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1