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Researcher
Elke Debackere
Profile
Projects
Publications
Activities
Awards & Distinctions
6
Results
2023
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
Pedro Ervilha Pereira
Nika Schuermans
Antoon Meylemans
Pontus LeBlanc
Lauren Versluys
KE Copley
JD Rubien
C Altheimer
Myra Peetermans
Elke Debackere
et al.
A1
Journal Article
in
ACTA NEUROPATHOLOGICA
2023
Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders
Nika Schuermans
Hannah Verdin
Jody Ghijsels
Madeleine Hellemans
Elke Debackere
Elke Bogaert
Sofie Symoens
Leslie Naesens
Elien Lecomte
David Crosiers
et al.
A1
Journal Article
in
NEUROLOGY-GENETICS
2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
Nika Schuermans
Salima El Chehadeh
Dimitri Hemelsoet
Jérémie Gautheron
Marie-Christine Vantyghem
Sonia Nouioua
Meriem Tazir
Corinne Vigouroux
Martine Auclair
Elke Bogaert
et al.
A1
Journal Article
in
NATURE GENETICS
2023
2022
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration
Pedro Ervilha Pereira
Nika Schuermans
Antoon Meylemans
Pontus LeBlanc
L Versluys
Elke Debackere
Olivier Vanakker
Sara Janssens
Jonathan Baets
K Verhoeven
et al.
C3
Conference
2022
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
Nika Schuermans
Salima El Chehadeh
Dimitri Hemelsoet
Elke Bogaert
Elke Debackere
Pascale Hilbert
Nike Van Doninck
Marie-Caroline Taquet
Toon Rosseel
Griet De Clercq
et al.
C3
Conference
2022
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
Nika Schuermans
Dimitri Hemelsoet
Wim Terryn
Sanne Steyaert
Rudy Van Coster
Paul Coucke
Wouter Steyaert
Bert Callewaert
Elke Bogaert
Patrick Verloo
et al.
A1
Journal Article
in
ORPHANET JOURNAL OF RARE DISEASES
2022