Ghent University Academic Bibliography

Journal Article
A1
open access

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

Pedro Ervilha Pereira (UGent) , Nika Schuermans (UGent) , Antoon Meylemans, Pontus LeBlanc (UGent) , Lauren Versluys (UGent) , KE Copley, JD Rubien, C Altheimer, Myra Peetermans, Elke Debackere (UGent) , et al.

(2023) ACTA NEUROPATHOLOGICA.

Add to list

Low gene copy numbers of complement C4 and complement C4A deficiency are strong and highly significant genetic risk factors for idiopathic inflammatory myopathy and its major subgroups

Daniel Zhou, Emily King, Simon Rothwell, Olga Krystufkova, Antonella Notarnicola, Rabheh Aziz, Emeli Lundstrom, Blanka Stiburkova, Lauren Pachman, Gulnara Mamyrova, et al.

(2023) CLINICAL AND EXPERIMENTAL RHEUMATOLOGY. In Clinical and Experimental Rheumatology 41(2). p.416-416

Add to list

Journal Article
A1
open access

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Madeleine Hellemans (UGent) , Elke Debackere (UGent) , Elke Bogaert (UGent) , Sofie Symoens (UGent) , Leslie Naesens (UGent) , Elien Lecomte, David Crosiers, et al.

(2023) NEUROLOGY-GENETICS. 9(3).

Add to list

Journal Article
A1
open access

Exploring the therapeutic potential of ectoine in Duchenne Muscular Dystrophy : comparison with taurine, a supplement with known beneficial effects in the mdx mouse

Caroline Merckx (UGent) , Jana Zschüntzsch, Stefanie Meyer, Robrecht Raedt (UGent) , Hanne Verschuere (UGent) , Jens Schmidt, Boel De Paepe (UGent) and Jan De Bleecker (UGent)

(2022) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 23(17).

Add to list

Het ‘three territory sign’ als een merker van occulte maligniteit bij een beroerte

Heleen Engels, Marc Lemmerling (UGent) and Jan De Bleecker (UGent)

(2022) TIJDSCHRIFT VOOR NEUROLOGIE & NEUROCHIRURGIE. 123(5). p.221-227

Add to list

Journal Article
A1
open access

Advance care planning in amyotrophic lateral sclerosis (ALS) : study protocol for a qualitative longitudinal study with persons with ALS and their family carers

Isabel Vandenbogaerde (UGent) , Rose Miranda (UGent) , Jan De Bleecker (UGent) , Emma Carduff, Agnes van der Heide, Lieve Van den Block (UGent) , Luc Deliens (UGent) and Aline De Vleminck (UGent)

(2022) BMJ OPEN. 12(5).

Add to list

Journal Article
A1
open access

Description of osmolyte pathways in maturing mdx mice reveals altered levels of taurine and sodium/myo-inositol co-transporters

Caroline Merckx (UGent) , Gwenny Cosemans (UGent) , Jana Zschüntzsch, Robrecht Raedt (UGent) , Jens Schmidt, Boel De Paepe (UGent) and Jan De Bleecker (UGent)

(2022) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 23(6).

Add to list

Journal Article
A1
open access

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

Add to list

HATTR-polyneuropathie : diagnose en behandeling

Jan De Bleecker (UGent) and Elke De Vos (UGent)

(2022) SPECIALIST. ACTUALITEIT VOOR DE ARTS-SPECIALIST. 190. p.14-15

Add to list

Osmotic stress-associated sodium/myo-inositol co-transporter is upregulated in skeletal muscle of the mdx mouse

Caroline Merckx (UGent) , Gwenny Cosemans (UGent) , Jana Zschuentzsch, Jens Schmidt, Jan De Bleecker (UGent) and Boel De Paepe (UGent)

(2022) 14th European Paediatric Neurology Society Congress, Abstracts. p.566-566

Academic Bibliography

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

Low gene copy numbers of complement C4 and complement C4A deficiency are strong and highly significant genetic risk factors for idiopathic inflammatory myopathy and its major subgroups

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Exploring the therapeutic potential of ectoine in Duchenne Muscular Dystrophy : comparison with taurine, a supplement with known beneficial effects in the mdx mouse

Het ‘three territory sign’ als een merker van occulte maligniteit bij een beroerte

Advance care planning in amyotrophic lateral sclerosis (ALS) : study protocol for a qualitative longitudinal study with persons with ALS and their family carers

Description of osmolyte pathways in maturing mdx mice reveals altered levels of taurine and sodium/myo-inositol co-transporters

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

HATTR-polyneuropathie : diagnose en behandeling

Osmotic stress-associated sodium/myo-inositol co-transporter is upregulated in skeletal muscle of the mdx mouse

Contents

Support

Contact