prof. dr. Jan De Bleecker

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).

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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.

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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

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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).

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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

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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).

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Conference Paper
open access

Expanded phenotyping by microscopic imaging

Frank Roels (UGent) , Patrick Verloo (UGent) , Boel De Paepe (UGent) , Jan De Bleecker (UGent) and Rudy Van Coster (UGent)

(2022) JIMD. In Journal of Inherited Metabolic Disease 45(Suppl 1).

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Conference Paper
C3
open access

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

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

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S302-S302

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Conference Paper
C3
open access

Risk of malignant hyperthermia in patients carrying a variant in the ryanodine receptor 1 gene

Sarah Herdewyn (UGent) , L Janssens, J De Puydt, Sofie Symoens (UGent) and Jan De Bleecker (UGent)

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S296-S296

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Conference Paper
C3
open access

Belgian retrospective survey of hereditary transthyretin-mediated (hATTR) amyloidosis patients treated with patisiran in real-world practice

S Tilleux, Jan De Bleecker (UGent) , K Claeys, S Destanche, V Van Parys, Jonathan Baets and G Remiche

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S273-S274

Academic Bibliography

prof. dr. Jan De Bleecker

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

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

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

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

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

Expanded phenotyping by microscopic imaging

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

Risk of malignant hyperthermia in patients carrying a variant in the ryanodine receptor 1 gene

Belgian retrospective survey of hereditary transthyretin-mediated (hATTR) amyloidosis patients treated with patisiran in real-world practice

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