Literature DB >> 26136517

Neuromyelitis optica in a child with Aicardi-Goutières syndrome.

Yael Hacohen1, Sameer Zuberi1, Angela Vincent2, Yanick J Crow1, Nuno Cordeiro1.   

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Year:  2015        PMID: 26136517      PMCID: PMC4520815          DOI: 10.1212/WNL.0000000000001792

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


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  7 in total

1.  Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assays.

Authors:  P J Waters; A McKeon; M I Leite; S Rajasekharan; V A Lennon; A Villalobos; J Palace; J N Mandrekar; A Vincent; A Bar-Or; S J Pittock
Journal:  Neurology       Date:  2012-02-01       Impact factor: 9.910

2.  Comparison of relapse and treatment failure rates among patients with neuromyelitis optica: multicenter study of treatment efficacy.

Authors:  Maureen A Mealy; Dean M Wingerchuk; Jacqueline Palace; Benjamin M Greenberg; Michael Levy
Journal:  JAMA Neurol       Date:  2014-03       Impact factor: 18.302

3.  Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Authors:  Eloy Cuadrado; Adeline Vanderver; Kristy J Brown; Annie Sandza; Asako Takanohashi; Machiel H Jansen; Jasper Anink; Brian Herron; Simona Orcesi; Ivana Olivieri; Gillian I Rice; Eleonora Aronica; Pierre Lebon; Yanick J Crow; Elly M Hol; Taco W Kuijpers
Journal:  Ann Rheum Dis       Date:  2014-06-06       Impact factor: 19.103

4.  A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis.

Authors:  Vanda A Lennon; Dean M Wingerchuk; Thomas J Kryzer; Sean J Pittock; Claudia F Lucchinetti; Kazuo Fujihara; Ichiro Nakashima; Brian G Weinshenker
Journal:  Lancet       Date:  2004 Dec 11-17       Impact factor: 79.321

5.  Neuromyelitis optica and non organ-specific autoimmunity.

Authors:  Sean J Pittock; Vanda A Lennon; Jerome de Seze; Patrick Vermersch; Henry A Homburger; Dean M Wingerchuk; Claudia F Lucchinetti; Hélène Zéphir; Kevin Moder; Brian G Weinshenker
Journal:  Arch Neurol       Date:  2008-01

6.  Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Authors:  Yanick J Crow; Maha S Zaki; Mohamed S Abdel-Hamid; Ghada Abdel-Salam; Odile Boespflug-Tanguy; Nuno J V Cordeiro; Joseph G Gleeson; Nirmala Rani Gowrinathan; Vincent Laugel; Florence Renaldo; Diana Rodriguez; John H Livingston; Gillian I Rice
Journal:  Neuropediatrics       Date:  2014-09-22       Impact factor: 1.947

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

Authors:  Gillian I Rice; Gabriella M A Forte; Marcin Szynkiewicz; Diana S Chase; Alec Aeby; Mohamed S Abdel-Hamid; Sam Ackroyd; Rebecca Allcock; Kathryn M Bailey; Umberto Balottin; Christine Barnerias; Genevieve Bernard; Christine Bodemer; Maria P Botella; Cristina Cereda; Kate E Chandler; Lyvia Dabydeen; Russell C Dale; Corinne De Laet; Christian G E L De Goede; Mireia Del Toro; Laila Effat; Noemi Nunez Enamorado; Elisa Fazzi; Blanca Gener; Madli Haldre; Jean-Pierre S-M Lin; John H Livingston; Charles Marques Lourenco; Wilson Marques; Patrick Oades; Pärt Peterson; Magnhild Rasmussen; Agathe Roubertie; Johanna Loewenstein Schmidt; Stavit A Shalev; Rogelio Simon; Ronen Spiegel; Kathryn J Swoboda; Samia A Temtamy; Grace Vassallo; Catheline N Vilain; Julie Vogt; Vanessa Wermenbol; William P Whitehouse; Doriette Soler; Ivana Olivieri; Simona Orcesi; Mona S Aglan; Maha S Zaki; Ghada M H Abdel-Salam; Adeline Vanderver; Kai Kisand; Flore Rozenberg; Pierre Lebon; Yanick J Crow
Journal:  Lancet Neurol       Date:  2013-10-30       Impact factor: 44.182

  7 in total
  5 in total

1.  JAK 1/2 Blockade in MDA5 Gain-of-Function.

Authors:  Kirsty E McLellan; Neil Martin; Joyce E Davidson; Nuno Cordeiro; Bridget D Oates; Bénédicte Neven; Gillian I Rice; Yanick J Crow
Journal:  J Clin Immunol       Date:  2018-11-15       Impact factor: 8.317

2.  Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.

Authors:  Lyse Ruaud; Gillian I Rice; Christelle Cabrol; Juliette Piard; Mathieu Rodero; Lien van Eyk; Elise Boucher-Brischoux; Alain Maertens de Noordhout; Ricardo Maré; Emmanuel Scalais; Fernand Pauly; François-Guillaume Debray; William Dobyns; Carolina Uggenti; Ji Woo Park; Sun Hur; John H Livingston; Yanick J Crow; Lionel Van Maldergem
Journal:  Hum Mutat       Date:  2018-06-04       Impact factor: 4.878

3.  Toward an Inclusive, Congruent, and Precise Definition of Autoinflammatory Diseases.

Authors:  Per Wekell; Stefan Berg; Anna Karlsson; Anders Fasth
Journal:  Front Immunol       Date:  2017-04-27       Impact factor: 7.561

Review 4.  Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview.

Authors:  Mathieu P Rodero; Yanick J Crow
Journal:  J Exp Med       Date:  2016-11-07       Impact factor: 14.307

5.  Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Authors:  Gillian I Rice; Sehoon Park; Francesco Gavazzi; Laura A Adang; Loveline A Ayuk; Lien Van Eyck; Luis Seabra; Christophe Barrea; Roberta Battini; Alexandre Belot; Stefan Berg; Thierry Billette de Villemeur; Annette E Bley; Lubov Blumkin; Odile Boespflug-Tanguy; Tracy A Briggs; Elise Brimble; Russell C Dale; Niklas Darin; 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 Heron; Delphine Heron; Diedre A Kelly; Dorit Lev; Virginie Levrat; John H Livingston; Itxaso Marti; Cyril Mignot; Fanny Mochel; Marie-Christine Nougues; Ilena Oppermann; Belén Pérez-Dueñas; Bernt Popp; Mathieu P Rodero; Diana Rodriguez; Veronica Saletti; Cia Sharpe; Davide Tonduti; Gayatri Vadlamani; Keith Van Haren; Miguel Tomas Vila; Julie Vogt; Evangeline Wassmer; Arnaud Wiedemann; Callum J Wilson; Ayelet Zerem; Christiane Zweier; Sameer M Zuberi; Simona Orcesi; Adeline L Vanderver; Sun Hur; Yanick J Crow
Journal:  Hum Mutat       Date:  2020-01-14       Impact factor: 4.878

  5 in total

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