Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

The Lancet Neurology - Tập 12 - Trang 1159-1169 - 2013
Gillian I Rice1, Gabriella M A Forte1, Marcin Szynkiewicz1, Diana S Chase1, Alec Aeby2, Mohamed S Abdel-Hamid3, Sam Ackroyd4, Rebecca Allcock5, Kathryn M Bailey6, Umberto Balottin7,8, Christine Barnerias9, Genevieve Bernard10, Christine Bodemer11, Maria P Botella12, Cristina Cereda13, Kate E Chandler14, Lyvia Dabydeen15, Russell C Dale16, Corinne De Laet17, Christian G E L De Goede18
1Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK
2Erasme University Hospital, Universite Libre de Bruxelles (ULB), Brussels, Belgium
3Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
4Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK
5Department of Clinical Biochemistry, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK
6University Hospitals of Coventry and Warwickshire, Coventry, UK
7Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy
8Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy
9Praticien Hospitalier, Unité de Neurologie Pédiatrique et Centre de Référence des Maladies Neuromusculaires, Hôpital Necker-Enfants Malades, Paris, France
10Department of Pediatrics, and Department of Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada
11Department of Dermatology, Reference Centre for Cutaneous Rare Diseases (MAGEC), Necker-Enfants Malades APHP, Sorbonne Paris Cité, Université Paris Descartes, Institut Imagine, Paris, France
12Department of Pediatrics, Hospital Universitario Araba, Vitoria-Gasteiz, Spain
13Laboratory of Experimental Neurobiology, C. Mondino National Neurological Institute, Pavia, Italy
14Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Manchester, UK
15Department of Paediatric Neurology, University Hospitals of Leicester NHS Trust, Leicester, UK
16TY Nelson Department of Neurology, and Neuroimmunology Group, the Children's Hospital at Westmead, University of Sydney, Sydney, NSW, Australia
17Nutrition and Metabolism Unit, Hôpital Universitaire des Enfants Reine Fabiola (ULB), Brussels, Belgium
18Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK

Tài liệu tham khảo

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