C
Catherine Vanhulle
Publications - 4
Citations - 474
Catherine Vanhulle is an academic researcher. The author has contributed to research in topics: Medicine & Disease. The author has an hindex of 1, co-authored 1 publications receiving 400 citations.
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Journal ArticleDOI
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I. Rice,Yoandris del Toro Duany,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella M A Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader-Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail 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 Robinson,Diana Rodriguez,Diana Rodriguez,Elisabetta 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,Sameer M. Zuberi,Sun Hur,Sun Hur,Yanick J. Crow +56 more
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.
Journal ArticleDOI
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Alessandra Guasto,Johanne Dubail,Sergio Aguilera-Albesa,Chiara Paganini,Catherine Vanhulle,Walid Haouari,Nerea Gorría-Redondo,Elena Aznal-Sainz,Nathalie Boddaert,Laura Planas-Serra,Agatha Schlüter,Edgard Verdura,Arnaud Bruneel,Antonio Rossi,Céline Huber,Aurora Pujol,Valérie Cormier-Daire +16 more
TL;DR: The data support that SLC35B2 functional impairment causes a novel syndromic chondrodysplasia with hypomyelinating leukodystrophy, most likely through a proteoglycan sulfation defect.
Journal ArticleDOI
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency
Stephen Staklinski,Sarah Snanoudj,Anne-Marie Guerrot,Catherine Vanhulle,François Lecoquierre,Soumeya Bekri,Michael S. Kilberg +6 more
TL;DR: In this paper , the authors describe a 9-year-old child who is a compound heterozygote with ASNS mutations c.1439C > T and c.239A > G leading to variants p.S480F and p.N80S, respectively.
Journal ArticleDOI
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study.
Martine Tardieu,Céline Cudejko,Aline Cano,Celia Hoebeke,Delphine Bernoux,Venice Goetz,Samia Pichard,Anaïs Brassier,Manuel Schiff,François Feillet,Particia Rollier,K. Mention,Dries Dobbelaere,Alain Fouilhoux,Caroline Espil-Taris,Didier Eyer,Frédéric Huet,Ulrike Walther-Louvier,Magalie Barth,Laurent Chevret,Alice Kuster,Jeremie Lefranc,J. Neveu,Gaelle Pitelet,Juliette Ropars,François Rivier,Agathe Roubertie,Guy Touati,Catherine Vanhulle,E Tardieu,Catherine Caillaud,Roseline Froissart,M. Champeaux,F. Labarthe,Brigitte Chabrol +34 more
TL;DR: In this paper , the authors reported the long term follow-up of one of the largest cohort of classical IOPD patients and demonstrated high mortality and morbidity rates at long term with a secondary decline in muscular and respiratory functions.