L
Luc Régal
Researcher at Katholieke Universiteit Leuven
Publications - 38
Citations - 1611
Luc Régal is an academic researcher from Katholieke Universiteit Leuven. The author has contributed to research in topics: Newborn screening & Glycosylation. The author has an hindex of 17, co-authored 36 publications receiving 1255 citations.
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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
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
L. Brun,Lock Hock Ngu,W. T. Keng,G. S. Ch'ng,Y. S. Choy,Wuh-Liang Hwu,Wang-Tso Lee,Michèl A.A.P. Willemsen,Marcel M. Verbeek,Tessa Wassenberg,Luc Régal,Simona Orcesi,Davide Tonduti,Patrizia Accorsi,H. Testard,Jose E. Abdenur,S. Tay,G. F. Allen,Simon Heales,Ilse Kern,Mitsuhiro Kato,Alessandro P. Burlina,C. Manegold,Georg F. Hoffmann,Nenad Blau +24 more
TL;DR: CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency, and treatment options are limited, in many cases not beneficial, and prognosis is uncertain.
Journal ArticleDOI
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Robert Kopajtich,Thomas J. Nicholls,Joanna Rorbach,Metodi D. Metodiev,Peter Freisinger,Hanna Mandel,Arnaud Vanlander,Daniele Ghezzi,Rosalba Carrozzo,Robert W. Taylor,Klaus Marquard,Kei Murayama,Thomas Wieland,Thomas Schwarzmayr,Johannes A. Mayr,Sarah F. Pearce,Christopher A. Powell,Ann Saada,Akira Ohtake,Federica Invernizzi,Eleonora Lamantea,Ewen W. Sommerville,Angela Pyle,Patrick F. Chinnery,Ellen Crushell,Yasushi Okazaki,Masakazu Kohda,Yoshihito Kishita,Yoshimi Tokuzawa,Zahra Assouline,Marlène Rio,François Feillet,Bénédict Mousson de Camaret,Dominique Chretien,Arnold Munnich,Arnold Munnich,Björn Menten,Tom Sante,Joél Smet,Luc Régal,Abraham Lorber,Asaad Khoury,Massimo Zeviani,Tim M. Strom,Thomas Meitinger,Enrico Bertini,Rudy Van Coster,Thomas Klopstock,Agnès Rötig,Tobias B. Haack,Michal Minczuk,Holger Prokisch +51 more
TL;DR: The study of a mitochondrial translation disorder points toward the importance of posttranscriptional modification of mitochondrial tRNAs for proper mitochondrial function.
Journal ArticleDOI
The G93C Mutation in Superoxide Dismutase 1: Clinicopathologic Phenotype and Prognosis
Luc Régal,Ludo Vanopdenbosch,Petra Tilkin,Ludo Van Den Bosch,Vincent Thijs,Raphael Sciot,Wim Robberecht +6 more
TL;DR: These findings add to the knowledge of S OD1-related familial ALS and demonstrate further clinicopathologic variability between different SOD1 mutations, and demonstrate the independent prognostic value of the G93C mutation.
Journal ArticleDOI
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Luc Régal,Merel S. Ebberink,Nathalie Goemans,Ronald J.A. Wanders,Linda De Meirleir,Jacques Jaeken,Maarten Schrooten,Rudy Van Coster,Hans R. Waterham +8 more
TL;DR: A child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense are described and peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessiveAtaxia.