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There are 6392 results for: content related to: Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration

  1. Aicardi–Goutieres syndrome: from patients to genes and beyond

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 413–420, C Chahwan and R Chahwan

    Version of Record online : 8 JAN 2012, DOI: 10.1111/j.1399-0004.2011.01825.x

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    Therapies in Aicardi–Goutières syndrome

    Clinical & Experimental Immunology

    Volume 175, Issue 1, January 2014, Pages: 1–8, Y. J. Crow, A. Vanderver, S. Orcesi, T. W. Kuijpers and G. I. Rice

    Version of Record online : 3 DEC 2013, DOI: 10.1111/cei.12115

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    Aicardi–Goutières syndrome: a model disease for systemic autoimmunity

    Clinical & Experimental Immunology

    Volume 175, Issue 1, January 2014, Pages: 17–24, M. A. Lee-Kirsch, C. Wolf and C. Günther

    Version of Record online : 3 DEC 2013, DOI: 10.1111/cei.12160

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    Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

    Developmental Medicine & Child Neurology

    Volume 50, Issue 6, June 2008, Pages: 410–416, Yanick J Crow and John H Livingston

    Version of Record online : 14 APR 2008, DOI: 10.1111/j.1469-8749.2008.02062.x

  5. Bilateral striatal necrosis in two subjects with Aicardi–Goutières syndrome due to mutations in ADAR1 (AGS6)

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 815–819, Roberta La Piana, Carla Uggetti, Ivana Olivieri, Davide Tonduti, Umberto Balottin, Elisa Fazzi and Simona Orcesi

    Version of Record online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36360

  6. Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 303–307, Yanick J. Crow, R.F. Massey, J.R. Innes, P.W. Pairaudeau, C.A. Rowland Hill, C.G. Woods, M. Ali, J.H. Livingston, P. Lebon, K. Nischall, M. McEntagart, N. Hindocha and R.M. Winter

    Version of Record online : 21 JUL 2004, DOI: 10.1002/ajmg.a.30250

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    Mouse models for Aicardi–Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity

    Clinical & Experimental Immunology

    Volume 175, Issue 1, January 2014, Pages: 9–16, R. Behrendt and A. Roers

    Version of Record online : 3 DEC 2013, DOI: 10.1111/cei.12147

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    Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 296–312, Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-Hamid, Ghada M. Abdel-Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon-Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul-Hirji, Eileen M. Baildam, Nadia Bahi-Buisson, Kathryn M. Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward M. Blair, Miriam Bloom, Alberto B. Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro-Gago, Anna Cavallini, Cristina Cereda, Kate E. Chandler, David A. Chitayat, Abigail E. Collins, Concepcion Sierra Corcoles, Nuno J.V. Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D′Arrigo, Christian G.E.L. De Goede, Corinne De Laet, Liesbeth M.H. De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C. Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R. Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J. Lim, Jean-Pierre S.-M. Lin, Tarja Linnankivi, Mark T. Mackay, Daphna R. Marom, Charles Marques Lourenço, Shane A. McKee, Isabella Moroni, Jenny E.V. Morton, Marie-Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez-Enamorado, Patrick J. Oades, Ivana Olivieri, John R. Ostergaard, Belén Pérez-Dueñas, Julie S. Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A. Segers, Gyanranjan P. Sinha, Doriette Soler, Ronen Spiegel, Tommy I. Stödberg, Rachel Straussberg, Kathryn J. Swoboda, Mohnish Suri, Uta Tacke, Tiong Y. Tan, Johann te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S. van der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B. Wallace, Evangeline Wassmer, Hannah J. Webb, William P. Whitehouse, Robyn N. Whitney, Maha S. Zaki, Sameer M. Zuberi, John H. Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi and Gillian I. Rice

    Version of Record online : 16 JAN 2015, DOI: 10.1002/ajmg.a.36887

  9. A novel RNASEH2B splice site mutation responsible for Aicardi–Goutieres syndrome in the Faroe Islands

    Acta Paediatrica

    Volume 101, Issue 11, November 2012, Pages: e509–e513, Elsebet Ostergaard, Frodi Joensen, Karin Sundberg, Morten Duno, Flemming J Hansen, Mustafa Batbayli, Nicolina Sørensen and Alfred Peter Born

    Version of Record online : 4 SEP 2012, DOI: 10.1111/j.1651-2227.2012.02807.x

  10. Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients

    Brain Pathology

    Volume 19, Issue 4, October 2009, Pages: 650–660, Alberto Izzotti, Alessandra Pulliero, Simona Orcesi, Cristina Cartiglia, Maria G. Longobardi, Valeria Capra, Pierre Lebon, Armando Cama, Roberta La Piana, Giovanni Lanzi and Elisa Fazzi

    Version of Record online : 23 OCT 2008, DOI: 10.1111/j.1750-3639.2008.00229.x

  11. Aicardi–Goutières syndrome presenting with haematemesis in infancy

    Acta Paediatrica

    Volume 98, Issue 12, December 2009, Pages: 2005–2008, D Hall, GI Rice, N Akbar, A Meager, YJ Crow and MJ Lim

    Version of Record online : 22 SEP 2009, DOI: 10.1111/j.1651-2227.2009.01454.x

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    Two siblings with a new Aicardi-Goutières-like syndrome

    Developmental Medicine & Child Neurology

    Volume 44, Issue 6, June 2002, Pages: 422–425, K B Schwarz, C D Ferrie and C G Woods

    Version of Record online : 13 FEB 2007, DOI: 10.1111/j.1469-8749.2002.tb00837.x

  13. You have full text access to this OnlineOpen article
    Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: E1836–E1850, Holger Thiele, Marcel du Moulin, Katarzyna Barczyk, Christel George, Wolfram Schwindt, Gudrun Nürnberg, Michael Frosch, Gerhard Kurlemann, Johannes Roth, Peter Nürnberg and Frank Rutsch

    Version of Record online : 14 SEP 2010, DOI: 10.1002/humu.21357

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    Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

    Arthritis & Rheumatism

    Volume 62, Issue 5, May 2010, Pages: 1469–1477, Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg, A. Micheil Innes, Kerstin Engel, Susan Hunger, Wiktor Borozdin, Jean K. Mah, Kristina Ungerath, Hartmut Walkenhorst, Hans-Helmut Richardt, Johannes Buckard, Andrea Bevot, Corinna Siegel, Celina von Stülpnagel, Chrysanthy Ikonomidou, Kara Thomas, Virginia Proud, Frank Niemann, Dagmar Wieczorek, Martin Häusler, Pascal Niggemann, Volkan Baltaci, Karsten Conrad, Pierre Lebon and Min Ae Lee-Kirsch

    Version of Record online : 29 JAN 2010, DOI: 10.1002/art.27367

  15. Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus

    Journal of Cutaneous Pathology

    Volume 35, Issue 8, August 2008, Pages: 774–778, Athanassios Kolivras, Alec Aeby, Yanick J. Crow, Gillian I. Rice, Ursula Sass and Josette André

    Version of Record online : 17 APR 2008, DOI: 10.1111/j.1600-0560.2007.00900.x

  16. Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases

    Acta Paediatrica

    Volume 93, Issue 7, July 2004, Pages: 929–936, GMH Abdel-Salam, MS Zaki, P Lebon and NA Meguid

    Version of Record online : 2 JAN 2007, DOI: 10.1111/j.1651-2227.2004.tb02691.x

  17. SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi–goutières syndrome-associated mutations

    Human Mutation

    Volume 33, Issue 7, July 2012, Pages: 1116–1122, Adriana Goncalves, Evren Karayel, Gillian I Rice, Keiryn L Bennett, Yanick J Crow, Giulio Superti-Furga and Tilmann Bürckstümmer

    Version of Record online : 16 APR 2012, DOI: 10.1002/humu.22087

  18. Aicardi-Goutières Syndrome: Cutaneous, Laboratory, and Radiologic Findings: A Case Report

    Pediatric Dermatology

    Volume 27, Issue 1, January/February 2010, Pages: 82–85, Anna Juern, Amber Robbins, Sheila Galbraith and Beth Drolet

    Version of Record online : 23 FEB 2010, DOI: 10.1111/j.1525-1470.2009.01055.x

  19. Familial Aicardi–Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 938–942, Russell C. Dale, Hannah Gornall, Davinder Singh-Grewal, Melanie Alcausin, Gillian I. Rice and Yanick J. Crow

    Version of Record online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33359

  20. Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C

    American Journal of Medical Genetics Part A

    Volume 161, Issue 2, February 2013, Pages: 338–342, Julie Vogt, Shakti Agrawal, Zala Ibrahim, Taunton R. Southwood, Sunny Philip, Lesley MacPherson, Malini V. Bhole, Yanick J. Crow and Christine Oley

    Version of Record online : 15 JAN 2013, DOI: 10.1002/ajmg.a.35712