prof. dr. Bart Dermaut

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

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).

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Journal Article
A1
open access

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert (UGent) , Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc (UGent) , Emma Van Reempts, Frederic Tran Mau-Them, Ingrid M. Wentzensen, Kit Sing Au, et al.

(2023) AMERICAN JOURNAL OF HUMAN GENETICS. 110(5). p.790-808

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Journal Article
A1
open access

Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism : possible implication for Alzheimer's disease

M Denechaud, Sarah Geurs (UGent) , T Comptdaer, S Bégard, A Garcia-Núñez, LA Pechereau, T Bouillet, Y Vermeiren, PP De Deyn, R Perbet, et al.

(2023) PROGRESS IN NEUROBIOLOGY. 223.

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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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Marked hypotonia : an additional feature of ANO3-related movement disorder

Patrick Santens (UGent) , Arnout Bruggeman (UGent) , Nika Schuermans (UGent) , Hannah Verdin (UGent) and Bart Dermaut (UGent)

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(12).

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Journal Article
A1
open access

Moyamoya disease emerging as an immune-related angiopathy

Caroline Asselman (UGent) , Dimitri Hemelsoet (UGent) , Denzel Eggermont (UGent) , Bart Dermaut (UGent) and Francis Impens (UGent)

(2022) TRENDS IN MOLECULAR MEDICINE. 28(11). p.939-950

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Conference Paper
C3
open access

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha Pereira (UGent) , Nika Schuermans (UGent) , Antoon Meylemans, Pontus LeBlanc (UGent) , L Versluys, Elke Debackere (UGent) , Olivier Vanakker (UGent) , Sara Janssens, Jonathan Baets, K Verhoeven, et al.

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119

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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80

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Journal Article
A1
open access

The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

Erwan Lambert, Orthis Saha, Bruna Soares Landeira, Ana Raquel Melo de Farias, Xavier Hermant, Arnaud Carrier, Alexandre Pelletier, Johanna Gadaut, Lindsay Davoine, Cloe Dupont, et al.

(2022) ACTA NEUROPATHOLOGICA COMMUNICATIONS. 10(1).

Academic Bibliography

prof. dr. Bart Dermaut

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

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism : possible implication for Alzheimer's disease

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

Marked hypotonia : an additional feature of ANO3-related movement disorder

Moyamoya disease emerging as an immune-related angiopathy

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

The Alzheimer susceptibility gene BIN1 induces isoform-dependent neurotoxicity through early endosome defects

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