Affordable Access

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Authors
Publication Date
Disciplines
  • Medicine

Abstract

Title page Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Gillian I Rice1, Paul R Kasher1, Gabriella MA Forte1, Niamh M Mannion2, Sam M Greenwood2, Marcin Szynkiewicz1, Jonathan E Dickerson1, Sanjeev S Bhaskar1, Massimiliano Zampini1, Tracy A Briggs1, Emma M Jenkinson1, Carlos A Bacino3, Roberta Battini4, Enrico Bertini5, Paul A Brogan6, Louise A Brueton7, Marialuisa Carpanelli8, Corinne De Laet9, Pascale de Lonlay10, Mireia del Toro11, Isabelle Desguerre12, Elisa Fazzi13, Àngels Garcia-Cazorla14,15, Arvid Heiberg16, Masakazu Kawaguchi17, Ram Kumar18, Jean-Pierre S-M Lin19, Charles M Lourenco20, Alison M Male21, Wilson Marques Jr20, Cyril Mignot22,23,24, Ivana Olivieri25, Simona Orcesi25, Prab Prabhakar26, Magnhild Rasmussen27, Robert A Robinson26, Flore Rozenberg28, Johanna L Schmidt29, Katharina Steindl30, Tiong Y Tan31, William G van der Merwe32, Adeline Vanderver29, Grace Vassallo33, Emma L Wakeling34, Evangeline Wassmer35, Elizabeth Whittaker36, John H Livingston37, Pierre Lebon28, Tamio Suzuki17, Paul J McLaughlin38, Liam P Keegan2, Mary A O’Connell2, Simon C Lovell39 & Yanick J Crow1 1Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, UK. 2Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Crewe Road, Edinburgh, UK. 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. 4Department of Developmental Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Stella Maris, Pisa, Italy. 5Laboratory of Molecular Medicine, Department of Neuroscience, Bambino Gesu' Children's Research Hospital, Rome, Italy. 6University College London (UCL) Institute of Child Health, London, UK. 7Clinical Genetics Unit, Birmingham Women's NHS Foundation Trust, Edgbaston, Birmingham. 8Department of Child Neurology and Psychiatry, A. Manzoni

There are no comments yet on this publication. Be the first to share your thoughts.