L
Linda De Meirleir
Researcher at Free University of Brussels
Publications - 63
Citations - 3040
Linda De Meirleir is an academic researcher from Free University of Brussels. The author has contributed to research in topics: Respiratory chain & Mitochondrial DNA. The author has an hindex of 25, co-authored 62 publications receiving 2645 citations.
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Journal ArticleDOI
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J. Edmond Wraith,Maurizio Scarpa,Michael Beck,Olaf Bodamer,Linda De Meirleir,Nathalie Guffon,Allan M. Lund,Gunilla Malm,Ans T. van der Ploeg,Jiri Zeman +9 more
TL;DR: ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease, and recommendations for the use of ERT are provided.
Journal ArticleDOI
De Novo LMNA Mutations Cause a New Form of Congenital Muscular Dystrophy
Susana Quijano-Roy,B. Mbieleu,Carsten G. Bönnemann,Pierre Yves Jeannet,Jaume Colomer,Nigel F. Clarke,Jean Marie Cuisset,Helen Roper,Linda De Meirleir,Adele D'Amico,Rabah Ben Yaou,Rabah Ben Yaou,Andrés Nascimento,A. Barois,L. Demay,Enrico Bertini,Ana Ferreiro,Ana Ferreiro,Caroline Sewry,Caroline Sewry,Norma B. Romero,Norma B. Romero,Monique M. Ryan,Francesco Muntoni,Pascale Guicheney,Pascale Guicheney,Pascale Richard,Pascale Richard,Gisèle Bonne,Gisèle Bonne,Brigitte Estournet +30 more
TL;DR: A new entity of congenital muscular dystrophies caused by de novo LMNA mutations is described, and it is proposed that this entity may represent a new type of dystrophy.
Journal ArticleDOI
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
Laura C. Tegtmeyer,Stephan Rust,Monique van Scherpenzeel,Bobby G. Ng,Marie-Estelle Losfeld,Sharita Timal,Kimiyo Raymond,Ping He,Mie Ichikawa,Joris A. Veltman,Karin Huijben,Yoon S. Shin,Vandana Sharma,Maciej Adamowicz,Martin Lammens,Janine Reunert,Anika Witten,Esther Schrapers,Gert Matthijs,Jaak Jaeken,Daisy Rymen,Tanya Stojkovic,Pascal Laforêt,François Petit,Olivier Aumaître,Elżbieta Czarnowska,Monique Piraud,Teodor Podskarbi,Charles A. Stanley,Reuben Matalon,Patricie Burda,Soraya Seyyedi,V. Debus,Piotr Socha,Jolanta Sykut-Cegielska,Francjan J. van Spronsen,Linda De Meirleir,Pietro Vajro,Terry J. DeClue,Can Ficicioglu,Yoshinao Wada,Ron A. Wevers,Dieter Vanderschaeghe,Nico Callewaert,Ralph Fingerhut,Emile Van Schaftingen,Hudson H. Freeze,Eva Morava,Dirk Lefeber,Thorsten Marquardt +49 more
TL;DR: In this paper, the authors evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogono-morphosis, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest.
Journal ArticleDOI
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Maurizio Scarpa,Zsuzsanna Almassy,Michael Beck,Olaf Bodamer,Iain A. Bruce,Linda De Meirleir,Nathalie Guffon,Encarna Guillén-Navarro,Pauline Hensman,Simon Jones,Wolfgang Kamin,Wolfgang Kamin,Christoph Kampmann,Christina Lampe,Christine Lavery,Elisa Leão Teles,Bianca Link,Allan M. Lund,Gunilla Malm,Susanne Pitz,M P Rothera,Catherine Stewart,Anna Tylki-Szymańska,Ans T. van der Ploeg,Robert W.M. Walker,Jiri Zeman,James E. Wraith +26 more
TL;DR: In this paper, the authors present an overview of how to recognise, diagnose, and care for patients with MPS II, which is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase.
Journal ArticleDOI
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Johannes R. Lemke,Kirsten Geider,Katherine L. Helbig,Henrike O. Heyne,Hannah Schütz,Julia Hentschel,Carolina Courage,Christel Depienne,Caroline Nava,Delphine Héron,Rikke S. Møller,Helle Hjalgrim,Dennis Lal,Bernd A. Neubauer,Peter Nürnberg,Holger Thiele,Gerhard Kurlemann,Georgianne L. Arnold,Vikas Bhambhani,Deborah Bartholdi,Christeen Ramane J. Pedurupillay,Doriana Misceo,Eirik Frengen,Petter Strømme,Dennis J. Dlugos,Emily S. Doherty,Emilia K. Bijlsma,Claudia A. L. Ruivenkamp,Mariëtte J.V. Hoffer,Amy Goldstein,Deepa S. Rajan,Vinodh Narayanan,Keri Ramsey,Newell Belnap,Isabelle Schrauwen,Ryan Richholt,Bobby P. C. Koeleman,Joaquim Sa,Carla Mendonça,Carolien G.F. de Kovel,Sarah Weckhuysen,Katia Hardies,Peter De Jonghe,Linda De Meirleir,Mathieu Milh,Catherine Badens,Marine Lebrun,Tiffany Busa,Christine Francannet,Amélie Piton,Erik Riesch,Saskia Biskup,Heinrich Vogt,Thomas Dorn,Ingo Helbig,Jacques L. Michaud,Bodo Laube,Steffen Syrbe +57 more
TL;DR: De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features.