Search Results - John H. Livingston

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  1. 1
    Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond

    Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond by Yanick J. Crow, John H. Livingston

    Published 2016
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  2. 2
    Treatments in Aicardi–Goutières syndrome

    Treatments in Aicardi–Goutières syndrome by Yanick J. Crow, Jay Shetty, John H. Livingston

    Published 2019
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  3. 3
    Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes

    Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes by John H. Livingston, Stavros Stivaros, Dan Warren, Yanick J. Crow

    Published 2013
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  4. 4
    Recognizable phenotypes associated with intracranial calcification

    Recognizable phenotypes associated with intracranial calcification by John H. Livingston, Stavros Stivaros, Marjo S. van der Knaap, Yanick J. Crow

    Published 2012
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  5. 5
    Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status

    Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status by Peter Baxter, Antonia Clarke, J. Helen Cross, Brian Harding, Elaine Hicks, John H. Livingston, Robert Surtees

    Published 2003
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  6. 6
    Update and Mutational Analysis of<i>SLC20A2</i>: A Major Cause of Primary Familial Brain Calcification

    Update and Mutational Analysis of<i>SLC20A2</i>: A Major Cause of Primary Familial Brain Calcification by Roberta R. Lemos, Eliana Marisa Ramos, Andrea Legati, Gaël Nicolas, Emma M. Jenkinson, John H. Livingston, Yanick J. Crow, Dominique Campion, Giovanni Coppola, João Ricardo Mendes de Oliveira

    Published 2015
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  7. 7
    Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis

    Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis by Venkateswaran Ramesh, Bruno De Bernardi, A. Stafa, Caterina Garone, Emilio Franzoni, Mario Abinun, Patrick Mitchell, Dipayan Mitra, Mark Friswell, John W. Nelson, Stavit A. Shalev, Gillian Rice, Hannah Gornall, Marcin Szynkiewicz, FRANÇOIS AYMARD, Vijeya Ganesan, Julie Prendiville, John H. Livingston, Yanick J. Crow

    Published 2010
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  8. 8
    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

    Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria by Mary O’Driscoll, Sarah B. Daly, Jill Urquhart, Graeme Black, Daniela T. Pilz, Knut Brockmann, Meriel McEntagart, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Nicole I. Wolf, Roger L. Ladda, Susan L. Sell, Stefano D’Arrigo, Waney Squier, William B. Dobyns, John H. Livingston, Yanick J. Crow

    Published 2010
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  9. 9
    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

    Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum by Amy McTague, Richard Appleton, Shivaram Avula, J. Helen Cross, Mary D. King, Thomas S. Jacques, Sanjay Bhate, Anthony Cronin, A. Curran, Archana Desurkar, Michael A. Farrell, Elaine Hughes, Rosalind J Jefferson, Karine Lascelles, John H. Livingston, Esther Meyer, Ailsa McLellan, Annapurna Poduri, Ingrid E. Scheffer, Stefan Spinty, Manju A. Kurian, Rachel Kneen

    Published 2013
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  10. 10
    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

    Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus by Joséphine Mayer, Emma M. Jenkinson, Paul R. Kasher, Stavros Stivaros, Andrea Berger, Duccio Maria Cordelli, Patrick Ferreira, Rosalind J Jefferson, G Kutschke, Staffan Lundberg, Katrin Õunap, Prab Prabhakar, Calvin Soh, Helen Stewart, Jon Stone, Marjo S. van der Knaap, Hilde Van Esch, Christine Van Mol, Emma Wakeling, Andrea Whitney, Gillian Rice, Yanick J. Crow, John H. Livingston

    Published 2014
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  11. 11
    Autonomic Status Epilepticus in Panayiotopoulos Syndrome and Other Childhood and Adult Epilepsies: A Consensus View

    Autonomic Status Epilepticus in Panayiotopoulos Syndrome and Other Childhood and Adult Epilepsies: A Consensus View by Colin D. Ferrie, Roberto Caraballo, Athanasios Covanis, Veysi Demirbilek, Ayşın Dervent, Natalio Fejerman, Lucia Fusco, Richard A. Grünewald, Osamu Kanazawa, Michael Koutroumanidis, Christina Olly Lada, John H. Livingston, Alessia Nicotra, Hirokazu Oguni, Žarko Martinović, Douglas R. Nordli, Pasquale Parisi, Rod C. Scott, Nicola Specchio, Alberto Verrotti, Federico Vigevano, Matthew C. Walker, Kazuyoshi Watanabe, Harumi Yoshinaga, C. P. Panayiotopoulos

    Published 2007
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  12. 12
    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

    Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey by Tracy A. Briggs, Gillian Rice, Navid Adib, Lesley C. Adès, Stéphane Barète, Kannan Baskar, Véronique Baudouin, Ayşe Nurcan Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Güven, Sebastien Héritier, Daniela Karall, Muralidhar L. Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnès Linglart, John H. Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revençu, Sabine Scholl‐Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow

    Published 2016
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  13. 13
    Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i>

    Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in <i>STAT2</i> by C.J. Duncan, Benjamin Thompson, Rui Chen, Gillian Rice, Florian Gothe, D. F. Young, Simon C. Lovell, Victoria G. Shuttleworth, Vicky Brocklebank, Bronte M. Corner, Andrew Skelton, Vincent Bondet, Jonathan Coxhead, Darragh Duffy, Cécile Fourrage, John H. Livingston, Julija Pavaine, Edmund Cheesman, Stephania Bitetti, Angela Grainger, Meghan Acres, Barbara A. Innes, Aneta Mikulášová, Ruyue Sun, Rafiqul Hussain, Ronnie Wright, Robert Wynn, Mohammed Zarhrate, Leo Zeef, Katrina Wood, Stephen Hughes, Claire L. Harris, Karin R. Engelhardt, Yanick J. Crow, Richard E. Randall, David Kavanagh, Sophie Hambleton, Tracy A. Briggs

    Published 2019
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  14. 14
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease by Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow

    Published 2017
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  15. 15
    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

    Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling by Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen Baildam, Roberta Battini, Michael W. Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E. Collins, Nuno Cordeiro, Russell C. Dale, Joyce Davidson, Liesbeth De Waele, Isabelle Desguerre, Laurence Faivre, Elisa Fazzi, Bertrand Isidor, Lieven Lagae, Andrew Latchman, Pierre Lebon, Chumei Li, John H. Livingston, Charles Marques Lourenço, Maria Margherita Mancardi, Alice Masurel‐Paulet, Iain B. McInnes, Manoj P. Menezes, Cyril Mignot, James O’Sullivan, Simona Orcesi, Paolo Picco, Enrica Riva, Robert A. Robinson, Diana Rodriguez, E. Salvatici, Christiaan Scott, Marta Szybowska, John Tolmie, Adeline Vanderver, Catherine Vanhulle, José Pedro Vieira, Kate Webb, Robyn Whitney, Simon G. Williams, Lynne A. Wolfe, Sameer M. Zuberi, Sun Hur, Yanick J. Crow

    Published 2014
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  16. 16
    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

    Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study by Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, Diana Chase, Alec Aeby, Mohamed S. Abdel‐Hamid, Sam Ackroyd, Rebecca Allcock, Kathryn Bailey, Umberto Balottin, Christine Barnérias, Geneviève Bernard, Christine Bodemer, M.P. Botella, Cristina Cereda, Kate Chandler, Lyvia Dabydeen, Russell C. Dale, Corinne De Laet, Christian G E L De Goede, Mireia del Toro, Laila K. Effat, Noemí Núñez Enamorado, Elisa Fazzi, Blanca Gener, Madli Haldre, Jean‐Pierre Lin, John H. Livingston, Charles Marques Lourenço, Wilson Marques, P.J. Oades, Pärt Peterson, Magnhild Rasmussen, Agathe Roubertie, Johanna Schmidt, Stavit A. Shalev, Rogelio Simón, Ronen Spiegel, Kathryn J. Swoboda, Samia A. Temtamy, Grace Vassallo, Catheline Vilain, Julie Vogt, Vanessa Wermenbol, William Whitehouse, Doriette Soler, Ivana Olivieri, Simona Orcesi, Mona Aglan, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Adeline Vanderver, Kai Kisand, Flore Rozenberg, Pierre Lebon, Yanick J. Crow

    Published 2013
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  17. 17
    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

    Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature by Gillian Rice, Paul R. Kasher, Gabriella Forte, Niamh Mannion, Sam M. Greenwood, Marcin Szynkiewicz, Jonathan E. Dickerson, Sanjeev S. Bhaskar, Massimiliano Zampini, Tracy A. Briggs, Emma M. Jenkinson, Carlos A. Bacino, Roberta Battini, Enrico Bertini, Paul Brogan, Louise Brueton, Marialuisa Carpanelli, Corinne De Laet, Pascale de Lonlay, Mireia del Toro, Isabelle Desguerre, Elisa Fazzi, Àngels García‐Cazorla, Arvid Heiberg, Masakazu Kawaguchi, Ram Kumar, Jean‐Pierre Lin, Charles Marques Lourenço, Alison Male, Wilson Marques, Cyril Mignot, Ivana Olivieri, Simona Orcesi, Prab Prabhakar, Magnhild Rasmussen, Robert A. Robinson, Flore Rozenberg, Johanna Schmidt, Katharina Steindl, Tiong Yang Tan, William G van der Merwe, Adeline Vanderver, Grace Vassallo, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, John H. Livingston, Pierre Lebon, Tamio Suzuki, Paul McLaughlin, Liam P. Keegan, Mary A. O’Connell, Simon C. Lovell, Yanick J. Crow

    Published 2012
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  18. 18
    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing by Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P. Badrock, Mathieu P. Rodero, Marie‐Thérèse El‐Daher, Gillian Rice, Somdutta Dhir, Ann P. Wheeler, Ashish Dhir, Waad Albawardi, Marie‐Louise Frémond, Luís Seabra, Jennifer Doig, Natalie Blair, Maria José Martin-Niclós, Erika Della Mina, Alejandro Rubio-Roldán, José L. García-Pérez, Duncan Sproul, Jan Rehwinkel, Jonny Hertzog, Anne Boland, Robert Olaso, Jean‐François Deleuze, Julien Baruteau, Karine Brochard, Jonathan D. Buckley, Vanessa Cavallera, Cristina Cereda, Liesbeth M. H. De Waele, Angus Dobbie, Diane Doummar, Frances Elmslie, Margarete Koch‐Hogrebe, Ram Kumar, Kate Lamb, John H. Livingston, Anirban Majumdar, Charles Marques Lorenço, Simona Orcesi, Sylviane Peudenier, Kevin Rostásy, Caroline A. Salmon, Christiaan Scott, Davide Tonduti, Guy Touati, Marialuisa Valente, Hélio van der Linden, Hilde Van Esch, Marie Vermelle, Kate Webb, Andrew P. Jackson, Martin A.M. Reijns, Nick Gilbert, Yanick J. Crow

    Published 2020
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  19. 19
    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function by Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow

    Published 2020
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  20. 20
    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

    Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts by Emma M. Jenkinson, Mathieu P. Rodero, Paul R. Kasher, Carolina Uggenti, Anthony Oojageer, Laurence Goosey, Y Rose, Christopher J. Kershaw, Jill Urquhart, Simon G. Williams, Sanjeev S. Bhaskar, James D.B. O’Sullivan, Gabriela M. Baerlocher, Monika Haubitz, Geraldine Aubert, Kristin Barañano, Angela Barnicoat, Roberta Battini, Andrea Berger, Edward Blair, Janice Brunstrom-Hernandez, Johannes Buckard, David Cassiman, Rosaline Caumes, Duccio Maria Cordelli, Liesbeth M De Waele, Alexander Fay, Patrick Ferreira, Nicholas Fletcher, Alan Fryer, Himanshu Goel, Cheryl Hemingway, Marco Henneke, Imelda Hughes, Rosalind J Jefferson, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Timothy J Malpas, Sarju Mehta, Imke Metz, SakkuBai Naidu, Katrin Õunap, Axel Panzer, Prab Prabhakar, Gerardine Quaghebeur, Raphael Schiffmann, Elliott H. Sherr, Kanaga R Sinnathuray, Calvin Soh, Helen Stewart, Jon Stone, Hilde Van Esch, Christine E G Van Mol, Adeline Vanderver, Emma Wakeling, Andrea Whitney, Graham D. Pavitt, Sam Griffiths‐Jones, Gillian Rice, Patrick Revy, Marjo S. van der Knaap, John H. Livingston, Raymond T. O’Keefe, Yanick J. Crow

    Published 2016
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