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Wilson Marques
Researcher at University of São Paulo
Publications - 121
Citations - 4080
Wilson Marques is an academic researcher from University of São Paulo. The author has contributed to research in topics: Ataxia & Medicine. The author has an hindex of 25, co-authored 109 publications receiving 3336 citations. Previous affiliations of Wilson Marques include Louisiana State University & University of London.
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Journal ArticleDOI
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I. Rice,Paul R. Kasher,Gabriella Forte,Niamh M. 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 A. Brogan,Louise Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia Del Toro,Isabelle Desguerre,Elisa Fazzi,Angels García-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram L. Kumar,Jean-Pierre Lin,Charles Marques Lourenço,Alison Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert Robinson,Flore Rozenberg,Johanna L. 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 J. McLaughlin,Liam Keegan,Mary A O'Connell,Simon C. Lovell,Yanick J. Crow +53 more
TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
Journal ArticleDOI
Multi-system neurological disease is common in patients with OPA1 mutations
Patrick Yu-Wai-Man,Philip G. Griffiths,Philip G. Griffiths,Grainne S. Gorman,Charles Marques Lourenço,Alan F. Wright,Michaela Auer-Grumbach,Antonio Toscano,Olimpia Musumeci,Maria Lucia Valentino,Leonardo Caporali,Costanza Lamperti,Chantal M. E. Tallaksen,P. Duffey,James Miller,Roger G. Whittaker,Mark R. Baker,Mark R. Baker,Margaret Jackson,Michael P. Clarke,Baljean Dhillon,Birgit Czermin,Joanna Stewart,Gavin Hudson,Pascal Reynier,Dominique Bonneau,Wilson Marques,Guy Lenaers,Robert McFarland,Robert W. Taylor,Douglass M. Turnbull,Marcela Votruba,Marcela Votruba,Massimo Zeviani,Valerio Carelli,Laurence A. Bindoff,Laurence A. Bindoff,Rita Horvath,Rita Horvath,Patrizia Amati-Bonneau,Patrick F. Chinnery +40 more
TL;DR: It is shown that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers, and careful surveillance is mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.
Journal ArticleDOI
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
Gillian I. Rice,Gabriella Forte,Marcin Szynkiewicz,Diana Chase,Alec Aeby,Mohamed S Abdel-Hamid,Sam Ackroyd,Rebecca L. Allcock,Kathryn Bailey,Umberto Balottin,Christine Barnerias,Geneviève Bernard,Christine Bodemer,Maria P. Botella,Cristina Cereda,Kate Chandler,Lyvia Dabydeen,Russell C. Dale,Corinne De Laet,Christian de Goede,Mireia Del Toro,Laila Effat,Noemi Nunez Enamorado,Elisa Fazzi,Blanca Gener,Madli Haldre,Jean-Pierre S-M Jp Lin,John Jh Livingston,Charles Marques Lourenço,Wilson Marques,Patrick J. Oades,Pärt Peterson,Magnhild Rasmussen,Agathe Roubertie,Johanna L. Schmidt,Stavit A. Shalev,Rogelio Simon,Ronen Spiegel,Kathryn Kj Swoboda,Samia Sa Temtamy,Grace Vassallo,Catheline Vilain,Julie Vogt,Vanessa Wermenbol,William Wp Whitehouse,Doriette Soler,Ivana Olivieri,Simona Orcesi,Mona Ms Aglan,Maha S. Zaki,Ghada Gm Abdel-Salam,Adeline Vanderver,Kai Kisand,Flore Rozenberg,Pierre Lebon,Yanick J. Crow,Yanick J. Crow +56 more
TL;DR: AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls, and neutralisation assays suggested that measurable antiviral activity was related toInterferon α production.
Journal ArticleDOI
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Andrea Cortese,Roberto Simone,Roisin Sullivan,Jana Vandrovcova,Huma Tariq,Wai Yan Yau,Jack Humphrey,Zane Jaunmuktane,Prasanth Sivakumar,James M. Polke,Muhammad Ilyas,Eloise Tribollet,Pedro J. Tomaselli,Grazia Devigili,Ilaria Callegari,Maurizio Versino,Vincenzo Salpietro,Stephanie Efthymiou,Diego Kaski,Nicholas W. Wood,Nadja S. Andrade,Elena Buglo,Adriana P. Rebelo,Alexander M. Rossor,Adolfo M. Bronstein,Pietro Fratta,Wilson Marques,Stephan Züchner,Mary M. Reilly,Henry Houlden +29 more
TL;DR: Non-parametric linkage analysis and genome sequencing are used to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist.
Journal ArticleDOI
The phenotypic manifestations of chromosome 17p11.2 duplication.
P. K. Thomas,Wilson Marques,Mary B. Davis,MG Sweeney,Rosalind H.M. King,J. L. Bradley,J. R. Muddle,J. Tyson,S. Malcolm,A. E. Harding +9 more
TL;DR: It is concluded that the possession of two copies of the peripheral myelin protein 22 gene within the duplicated region on chromosome 17p gives rise to a range of phenotypes and not solely to a CMT syndrome, and that the pattern of histological change in the peripheral nerves alters with advance of the disease.