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Developmental Medicine and Child Neurology|July 27, 2010
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasisVenkateswaran Ramesh, Bruno Bernardi, Altin Stafa, et al.The British Journal of Dermatology|August 19, 2015
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromesA-C Bursztejn, T A Briggs, Y del Toro Duany, et al.The Journal of Clinical Investigation|November 18, 2014
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestationsNadia Jeremiah, Bénédicte Neven, Matteo Gentili, et al.Thorax|November 1, 2019
Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhageMarie-Louise Frémond, Marie Legendre, Michael Fayon, et al.Nature|July 27, 2018
Mitochondrial double-stranded RNA triggers antiviral signalling in humansAshish Dhir, Somdutta Dhir, Lukasz S Borowski, et al.Pediatric Rheumatology Online Journal|October 4, 2014
Mutations in CECR1 associated with a neutrophil signature in peripheral bloodAlexandre Belot, Evangeline Wassmer, Marinka Twilt, et al.Nature|November 8, 2011
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolaseDavid C Goldstone, Valerie Ennis-Adeniran, Joseph J Hedden, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 20, 2016
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndromeDavide Tonduti, Simona Orcesi, Emma M Jenkinson, et al.Journal of Medical Genetics|November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.Human Mutation|May 22, 2018
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-functionLyse Ruaud, Gillian I Rice, Christelle Cabrol, et al.Pageof 20