C
Christian de Goede
Researcher at Lancashire Teaching Hospitals NHS Foundation Trust
Publications - 36
Citations - 2182
Christian de Goede is an academic researcher from Lancashire Teaching Hospitals NHS Foundation Trust. The author has contributed to research in topics: Aicardi–Goutières syndrome & Medicine. The author has an hindex of 17, co-authored 32 publications receiving 1741 citations. Previous affiliations of Christian de Goede include Lancaster University & UCL Institute of Child Health.
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Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G. Leen,Joerg Klepper,Marcel M. Verbeek,Maike Leferink,Tom G.J. Hofste,Baziel G.M. van Engelen,Ron A. Wevers,Todd Arthur,Nadia Bahi-Buisson,Diana Ballhausen,Jolita Bekhof,Patrick Van Bogaert,Ines Carrilho,Brigitte Chabrol,Michael Champion,James Coldwell,Peter E. Clayton,Elizabeth J. Donner,Athanasios Evangeliou,F. Ebinger,Kevin Farrell,Rob Forsyth,Christian de Goede,Stephanie Gross,Stephanie Grunewald,Hans Holthausen,Sandeep Jayawant,Katherine Lachlan,Vincent Laugel,Kathy Leppig,Ming K. Lim,Grazia M.S. Mancini,Adela Della Marina,Loreto Martorell,Joe McMenamin,Marije E. C. Meuwissen,Helen Mundy,Nils O. Nilsson,Axel Panzer,Bwee Tien Poll-The,C. Rauscher,Christophe M. R. Rouselle,Inger Sandvig,Thomas Scheffner,Eamonn Sheridan,Neil Simpson,Parol Sykora,Richard Tomlinson,John Trounce,David Webb,Bernhard Weschke,Hans Scheffer,Michèl A.A.P. Willemsen +52 more
TL;DR: It is demonstrated that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
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
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Fatemeh Geranmayeh,Emma Clement,Lucy Feng,Caroline Sewry,Judith Pagan,R. Mein,Stephen Abbs,Louise Brueton,Anne Marie Childs,Heinz Jungbluth,Christian de Goede,Bryan Lynch,Jean-Pierre Lin,Gabriel Chow,Carlos de Sousa,Olivia O'Mahony,Anirban Majumdar,Volker Straub,Kate Bushby,Francesco Muntoni +19 more
TL;DR: This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A.
Journal ArticleDOI
Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features
Michael Absoud,Ming K. Lim,Wui K. Chong,Christian de Goede,Katharine Foster,Roxana Gunny,Cheryl Hemingway,Philip Jardine,Rachel Kneen,Marcus Likeman,Ken K. Nischal,Michael Pike,Naomi Sibtain,William P Whitehouse,Carole Cummins,Evangeline Wassmer +15 more
TL;DR: A trend towards higher incidence rates of ADS in children of South Asian and Black ethnicity was observed compared with White children, and a number of MRI characteristics distinguished ADEM from CIS cases.