Nika Schuermans

Affiliations

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.

Publications (7)

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Nature genetics

Avec: Nika Schuermans , Salima El Chehadeh , Dimitri Hemelsoet , Jérémie Gautheron , Marie-Christine Vantyghem , Sonia Nouioua , Meriem Tazir , Corinne Vigouroux , Martine Auclair , Elke Bogaert , Sara Dufour , Fumiya Okawa , Pascale Hilbert , Nike Van Doninck , Marie-Caroline Taquet , Toon Rosseel , Griet De Clercq , Elke Debackere , Carole Van Haverbeke , Ferroudja Ramdane Cherif , Jon Andoni Urtizberea , Jean-Baptiste Chanson , Benoit Funalot , François-Jérôme Authier , Sabine Kaya , Wim Terryn , Steven Callens , Bernard Depypere , Jo Van Dorpe , Auteur inconnu , Bruce Poppe , Francis Impens , Noboru Mizushima , Christel Depienne , Isabelle Jéru , Bart Dermaut

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

NPJ genomic medicine

Avec: German Demidov , Burcu Yaldiz , José Garcia-Pelaez , Elke de Boer , Nika Schuermans , Liedewei Van de Vondel , Ida Paramonov , Lennart F Johansson , Francesco Musacchia , Elisa Benetti , Gemma Bullich , Karolis Sablauskas , Sergi Beltran , Christian Gilissen , Alexander Hoischen , Stephan Ossowski , Richarda de Voer , Katja Lohmann , Carla Oliveira , Ana Topf , Lisenka E L M Vissers , Auteur inconnu , Steven Laurie

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.

Acta neuropathologica

Avec: Pedro Ervilha Pereira , Nika Schuermans , Antoon Meylemans , Pontus LeBlanc , Lauren Versluys , Katie E Copley , Jack D Rubien , Christopher Altheimer , Myra Peetermans , Elke Debackere , Olivier Vanakker , Sandra Janssens , Jonathan Baets , Kristof Verhoeven , Martin Lammens , Sofie Symoens , Boel De Paepe , Sami J Barmada , James Shorter , Jan L De Bleecker , Elke Bogaert , Bart Dermaut

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.

Neurology. Genetics

Avec: Nika Schuermans , Hannah Verdin , Jody Ghijsels , Madeleine Hellemans , Elke Debackere , Elke Bogaert , Sofie Symoens , Leslie Naesens , Elien Lecomte , David Crosiers , Bruno Bergmans , Kristof Verhoeven , Bruce Poppe , Guy Laureys , Sarah Herdewyn , Tim Van Langenhove , Patrick Santens , Jan L De Bleecker , Dimitri Hemelsoet , Bart Dermaut , Auteur inconnu

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).

Journal of neurology

Avec: Astrid Van den Broecke , Alexander Decruyenaere , Nika Schuermans , Hannah Verdin , Jody Ghijsels , Anne Sieben , Bart Dermaut , Dimitri Hemelsoet

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Orphanet journal of rare diseases

Avec: Nika Schuermans , Dimitri Hemelsoet , Wim Terryn , Sanne Steyaert , Rudy Van Coster , Paul J Coucke , Wouter Steyaert , Bert Callewaert , Elke Bogaert , Patrick Verloo , Arnaud V Vanlander , Elke Debackere , Jody Ghijsels , Pontus LeBlanc , Hannah Verdin , Leslie Naesens , Filomeen Haerynck , Steven Callens , Bart Dermaut , Bruce Poppe , Auteur inconnu

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions.

Frontiers in neuroscience

Avec: Lauren Versluys , Pedro Ervilha Pereira , Nika Schuermans , Boel De Paepe , Jan L De Bleecker , Elke Bogaert , Bart Dermaut

Réseau de co-auteurs

Bart Dermaut 6 collaborations

Elke Bogaert 5 collaborations

Dimitri Hemelsoet 4 collaborations

Elke Debackere 4 collaborations

None None 4 collaborations

Bruce Poppe 3 collaborations

Jan L De Bleecker 3 collaborations

Hannah Verdin 3 collaborations

Jody Ghijsels 3 collaborations

Wim Terryn 2 collaborations

Steven Callens 2 collaborations

Pedro Ervilha Pereira 2 collaborations

Pontus LeBlanc 2 collaborations

Lauren Versluys 2 collaborations

Kristof Verhoeven 2 collaborations

Sofie Symoens 2 collaborations

Boel De Paepe 2 collaborations

Leslie Naesens 2 collaborations

Salima El Chehadeh 1 collaboration

Jérémie Gautheron 1 collaboration

Marie-Christine Vantyghem 1 collaboration

Sonia Nouioua 1 collaboration

Meriem Tazir 1 collaboration

Corinne Vigouroux 1 collaboration

Martine Auclair 1 collaboration

Sara Dufour 1 collaboration

Fumiya Okawa 1 collaboration

Pascale Hilbert 1 collaboration

Nike Van Doninck 1 collaboration

Marie-Caroline Taquet 1 collaboration

Toon Rosseel 1 collaboration

Griet De Clercq 1 collaboration

Carole Van Haverbeke 1 collaboration

Ferroudja Ramdane Cherif 1 collaboration

Jon Andoni Urtizberea 1 collaboration

Jean-Baptiste Chanson 1 collaboration

Benoit Funalot 1 collaboration

François-Jérôme Authier 1 collaboration

Sabine Kaya 1 collaboration

Bernard Depypere 1 collaboration

Jo Van Dorpe 1 collaboration

Francis Impens 1 collaboration

Noboru Mizushima 1 collaboration

Christel Depienne 1 collaboration

Isabelle Jéru 1 collaboration

German Demidov 1 collaboration

Burcu Yaldiz 1 collaboration

José Garcia-Pelaez 1 collaboration

Elke de Boer 1 collaboration

Liedewei Van de Vondel 1 collaboration

Ida Paramonov 1 collaboration

Lennart F Johansson 1 collaboration

Francesco Musacchia 1 collaboration

Elisa Benetti 1 collaboration

Gemma Bullich 1 collaboration

Karolis Sablauskas 1 collaboration

Sergi Beltran 1 collaboration

Christian Gilissen 1 collaboration

Alexander Hoischen 1 collaboration

Stephan Ossowski 1 collaboration

Richarda de Voer 1 collaboration

Katja Lohmann 1 collaboration

Carla Oliveira 1 collaboration

Ana Topf 1 collaboration

Lisenka E L M Vissers 1 collaboration

Steven Laurie 1 collaboration

Antoon Meylemans 1 collaboration

Katie E Copley 1 collaboration

Jack D Rubien 1 collaboration

Christopher Altheimer 1 collaboration

Myra Peetermans 1 collaboration

Olivier Vanakker 1 collaboration

Sandra Janssens 1 collaboration

Jonathan Baets 1 collaboration

Martin Lammens 1 collaboration

Sami J Barmada 1 collaboration

James Shorter 1 collaboration

Madeleine Hellemans 1 collaboration

Elien Lecomte 1 collaboration

David Crosiers 1 collaboration

Bruno Bergmans 1 collaboration

Guy Laureys 1 collaboration

Sarah Herdewyn 1 collaboration

Tim Van Langenhove 1 collaboration

Patrick Santens 1 collaboration

Astrid Van den Broecke 1 collaboration

Alexander Decruyenaere 1 collaboration

Anne Sieben 1 collaboration

Sanne Steyaert 1 collaboration

Rudy Van Coster 1 collaboration

Paul J Coucke 1 collaboration

Wouter Steyaert 1 collaboration

Bert Callewaert 1 collaboration

Patrick Verloo 1 collaboration

Arnaud V Vanlander 1 collaboration

Filomeen Haerynck 1 collaboration