John B P Stephenson

Summary

Country: UK

Publications

  1. ncbi request reprint Aicardi-Goutières syndrome--observations of the Glasgow school
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 6:A67-70; discussion A37-9, A55-8, A65-6. 2002
  2. doi request reprint Aicardi-Goutières syndrome (AGS)
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 12:355-8. 2008
  3. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
  4. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006

Collaborators

  • Tiong Y Tan
  • Roberta Biancheri
  • Alec Aeby
  • Giovanni Lanzi
  • Bruno Barroso
  • Yanick Crow
  • Stavit A Shalev
  • Maria Luisa Martinez-Frias
  • Lieven Lagae
  • Enza Maria Valente
  • Han G Brunner
  • J Aicardi
  • C Bergmann
  • Gillian Rice
  • Christopher J Burke
  • Andrew P Jackson
  • Catherine Dery
  • Yong hui Jiang
  • Raphael Schiffmann
  • Evangeline Wassmer
  • Peter C Corry
  • Marie Laure Moutard
  • John L Tolmie
  • Suzanna G M Frints
  • John P McClure
  • John Dean
  • Agathe Roubertie
  • Michael J Lyons
  • Dieter Kotzot
  • Michel A A Willemsen
  • Frances M Cowan
  • Simon Attard Montalto
  • Stefano D'Arrigo
  • Margo L Whiteford
  • Colin D Ferrie
  • Amparo Sanchis
  • Daphna Marom
  • E G Hermione Lyall
  • Amy Kao
  • Carlos A Bacino
  • Nenad Blau
  • Elisabeth M Rosser
  • Kate E Chandler
  • Andrea Leitch
  • C Sierra Corcoles
  • Teresa Patrick
  • Francoise Goutieres
  • Nathalie Van der Aa
  • Sarina G Kant
  • John R Ostergaard
  • Raoul C Hennekam
  • Marie Husson
  • Mary D King
  • Johannes S H Vles
  • Julie Prendiville
  • Thomas Voit
  • R Curtis Rogers
  • Ronen Spiegel
  • Simona Orcesi
  • Rafael Artuch
  • Andrew J Kornberg
  • Peter Baxter
  • Rudy N A Van Coster
  • David T Bonthron
  • Uta Tacke
  • Robert McWilliam
  • Daniel R Carvalho
  • Elisa Fazzi
  • Rasieka Jayatunga
  • Claudine De Praeter
  • Sally A Lynch
  • Federica Vagnarelli
  • Andrew J Green
  • Marianne Till
  • Dominique Roland
  • Pierre Georges Landrieu
  • Sabine Scholl-Burgi
  • Pam Tomlin
  • Agnes Guet
  • Kim Flintoff
  • John H Livingston
  • Doriette Soler
  • Joerg Klepper
  • Rekha Parmar
  • Adeline Vanderver
  • Ming J Lim
  • Andreas Zankl
  • Willam S Benko
  • Sameer M Zuberi
  • Blanca Gener

Detail Information

Publications4

  1. ncbi request reprint Aicardi-Goutières syndrome--observations of the Glasgow school
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 6:A67-70; discussion A37-9, A55-8, A65-6. 2002
  2. doi request reprint Aicardi-Goutières syndrome (AGS)
    John B P Stephenson
    Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, Scotland, UK
    Eur J Paediatr Neurol 12:355-8. 2008
    ....
  3. pmc Clinical and molecular phenotype of Aicardi-Goutieres syndrome
    Gillian Rice
    Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, LS9 7TF, UK
    Am J Hum Genet 81:713-25. 2007
    ..Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified...
  4. ncbi request reprint Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection
    Yanick J Crow
    Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds, LS9 7TF, UK
    Nat Genet 38:910-6. 2006
    ..Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation...