Elsa Wiame

Affiliations

Laboratory of Physiological Chemistry, Université Catholique de Louvain and the Christian de Duve Institute of Cellular Pathology, Brussels, Belgium.

Publications (6)

Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment.

Frontiers in neurology

Avec: Adam Benkirane , Thibault Warlop , Adrian Ivanoiu , Pierre Baret , Elsa Wiame , Vincent Haufroid , Thierry Duprez , Philippe Hantson

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

American journal of human genetics

Avec: Nuno Maia , Sven Potelle , Hamide Yildirim , Sandrine Duvet , Shyam K Akula , Celine Schulz , Elsa Wiame , Alexander Gheldof , Katherine O'Kane , Abbe Lai , Karen Sermon , Maïa Proisy , Philippe Loget , Tania Attié-Bitach , Chloé Quelin , Ana Maria Fortuna , Ana Rita Soares , Arjan P M de Brouwer , Emile Van Schaftingen , Marie-Cécile Nassogne , Christopher A Walsh , Katrien Stouffs , Paula Jorge , Anna C Jansen , François Foulquier

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Annals of neurology

Avec: Joseph P Dewulf , Elsa Wiame , Imen Dorboz , Monique Elmaleh-Bergès , Apolline Imbard , Dana Dumitriu , Malgorzata Rak , Agnès Bourillon , Raphaël Helaers , Alisha Malla , Florence Renaldo , Odile Boespflug-Tanguy , Marie-Françoise Vincent , Jean-François Benoist , Ron A Wevers , Avner Schlessinger , Emile Van Schaftingen , Marie-Cécile Nassogne , Manuel Schiff

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

The Journal of clinical investigation

Avec: Eva Lausberg , Sebastian Gießelmann , Joseph P Dewulf , Elsa Wiame , Anja Holz , Ramona Salvarinova , Clara D van Karnebeek , Patricia Klemm , Kim Ohl , Michael Mull , Till Braunschweig , Joachim Weis , Clemens J Sommer , Stephanie Demuth , Claudia Haase , Claudia Stollbrink-Peschgens , François-Guillaume Debray , Cecile Libioulle , Daniela Choukair , Prasad T Oommen , Arndt Borkhardt , Harald Surowy , Dagmar Wieczorek , Norbert Wagner , Robert Meyer , Thomas Eggermann , Matthias Begemann , Emile Van Schaftingen , Martin Häusler , Klaus Tenbrock , Lambert van den Heuvel , Miriam Elbracht , Ingo Kurth , Florian Kraft

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Brain communications

Avec: Irena J J Muffels , Elsa Wiame , Sabine A Fuchs , Maarten P G Massink , Holger Rehmann , Jiska L I Musch , Gijs Van Haaften , Didier Vertommen , Emile van Schaftingen , Peter M van Hasselt

Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.

Clinical case reports

Avec: Christos Dimitriou , Souha Saliba , Xavier Peyrassol , Wafa Ben Abbou , Marie Cécile Nassogne , Carine Neugroschl , Elsa Wiame , Anne De Leener , Marie Cassart

Réseau de co-auteurs

Emile Van Schaftingen 3 collaborations

Marie-Cécile Nassogne 2 collaborations

Joseph P Dewulf 2 collaborations

Adam Benkirane 1 collaboration

Thibault Warlop 1 collaboration

Adrian Ivanoiu 1 collaboration

Pierre Baret 1 collaboration

Vincent Haufroid 1 collaboration

Thierry Duprez 1 collaboration

Philippe Hantson 1 collaboration

Nuno Maia 1 collaboration

Sven Potelle 1 collaboration

Hamide Yildirim 1 collaboration

Sandrine Duvet 1 collaboration

Shyam K Akula 1 collaboration

Celine Schulz 1 collaboration

Alexander Gheldof 1 collaboration

Katherine O'Kane 1 collaboration

Abbe Lai 1 collaboration

Karen Sermon 1 collaboration

Maïa Proisy 1 collaboration

Philippe Loget 1 collaboration

Tania Attié-Bitach 1 collaboration

Chloé Quelin 1 collaboration

Ana Maria Fortuna 1 collaboration

Ana Rita Soares 1 collaboration

Arjan P M de Brouwer 1 collaboration

Christopher A Walsh 1 collaboration

Katrien Stouffs 1 collaboration

Paula Jorge 1 collaboration

Anna C Jansen 1 collaboration

François Foulquier 1 collaboration

Imen Dorboz 1 collaboration

Monique Elmaleh-Bergès 1 collaboration

Apolline Imbard 1 collaboration

Dana Dumitriu 1 collaboration

Malgorzata Rak 1 collaboration

Agnès Bourillon 1 collaboration

Raphaël Helaers 1 collaboration

Alisha Malla 1 collaboration

Florence Renaldo 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Marie-Françoise Vincent 1 collaboration

Jean-François Benoist 1 collaboration

Ron A Wevers 1 collaboration

Avner Schlessinger 1 collaboration

Manuel Schiff 1 collaboration

Eva Lausberg 1 collaboration

Sebastian Gießelmann 1 collaboration

Anja Holz 1 collaboration

Ramona Salvarinova 1 collaboration

Clara D van Karnebeek 1 collaboration

Patricia Klemm 1 collaboration

Kim Ohl 1 collaboration

Michael Mull 1 collaboration

Till Braunschweig 1 collaboration

Joachim Weis 1 collaboration

Clemens J Sommer 1 collaboration

Stephanie Demuth 1 collaboration

Claudia Haase 1 collaboration

Claudia Stollbrink-Peschgens 1 collaboration

François-Guillaume Debray 1 collaboration

Cecile Libioulle 1 collaboration

Daniela Choukair 1 collaboration

Prasad T Oommen 1 collaboration

Arndt Borkhardt 1 collaboration

Harald Surowy 1 collaboration

Dagmar Wieczorek 1 collaboration

Norbert Wagner 1 collaboration

Robert Meyer 1 collaboration

Thomas Eggermann 1 collaboration

Matthias Begemann 1 collaboration

Martin Häusler 1 collaboration

Klaus Tenbrock 1 collaboration

Lambert van den Heuvel 1 collaboration

Miriam Elbracht 1 collaboration

Ingo Kurth 1 collaboration

Florian Kraft 1 collaboration

Irena J J Muffels 1 collaboration

Sabine A Fuchs 1 collaboration

Maarten P G Massink 1 collaboration

Holger Rehmann 1 collaboration

Jiska L I Musch 1 collaboration

Gijs Van Haaften 1 collaboration

Didier Vertommen 1 collaboration

Emile van Schaftingen 1 collaboration

Peter M van Hasselt 1 collaboration

Christos Dimitriou 1 collaboration

Souha Saliba 1 collaboration

Xavier Peyrassol 1 collaboration

Wafa Ben Abbou 1 collaboration

Marie Cécile Nassogne 1 collaboration

Carine Neugroschl 1 collaboration

Anne De Leener 1 collaboration

Marie Cassart 1 collaboration