Ghent University Academic Bibliography

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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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Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

Dörthe Holdhof, Pascal D. Johann, Michael Spohn, Michael Bockmayr, Sepehr Safaei, Piyush Joshi, Julien Masliah-Planchon, Ben Ho, Mamy Andrianteranagna, Franck Bourdeaut, et al.

(2021) ACTA NEUROPATHOLOGICA. 141(2). p.291-301
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Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export

Shaun Martin, Stefanie Smolders, Chris Van den Haute, Bavo Heeman, Sarah van Veen, David Crosiers, Igor Beletchi, Aline Verstraeten, Helena Gossye, Geraldine Gelders, et al.

(2020) ACTA NEUROPATHOLOGICA. 139(6). p.1001-1024
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Loss of DPP6 in neurodegenerative dementia : a genetic player in the dysfunction of neuronal excitability

Rita Cacace, Bavo Heeman, Sara Van Mossevelde, Arne De Roeck, Julie Hoogmartens, Peter De Rijk, Helena Gossye, Kristof De Vos, Wouter De Coster, Mojca Strazisar, et al.

(2019) ACTA NEUROPATHOLOGICA. 137(6). p.901-918
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A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

B Swinnen, A Bento-Abreu, TF Gendron, S Boeynaems, Elke Bogaert (UGent) , R Nuyts, M Timmers, W Scheveneels, N Hersmus, J Wang, et al.

(2018) ACTA NEUROPATHOLOGICA. 135(3). p.427-443
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A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

Delphine Bouhy, Manisha Juneja, Istvan Katona, Anne Holmgren, Bob Asselbergh, Vicky De Winter, Tino Hochepied (UGent) , Steven Goossens (UGent) , Jody J Haigh, Claude Libert (UGent) , et al.

(2018) ACTA NEUROPATHOLOGICA. 135(1). p.131-148
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An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease

Arne De Roeck, Lena Duchateau, Jasper Van Dongen, Rita Cacace, Maria Bjerke, Tobi Van den Bossche, Patrick Cras, Rik Vandenberghe, Peter P De Deyn, Sebastiaan Engelborghs, et al.

(2018) ACTA NEUROPATHOLOGICA. 135(6). p.827-837
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Inside out : the role of nucleocytoplasmic transport in ALS and FTLD

S Boeynaems, Elke Bogaert (UGent) , P Van Damme and L Van Den Bosch

(2016) ACTA NEUROPATHOLOGICA. 132(2). p.159-173
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A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

Jan Verheijen, Tobi Van den Bossche, Julie van der Zee, Sebastiaan Engelborghs, Raquel Sanchez-Valle, Albert Llado, Caroline Graff, Hakan Thonberg, Pau Pastor, Sara Ortega-Cubero, et al.

(2016) ACTA NEUROPATHOLOGICA. 132(2). p.213-224
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Mitochondria-associated membranes as hubs for neurodegeneration

Michiel Krols, Gert Van Isterdael (UGent) , Bob Asselbergh, Anna Kremer (UGent) , Saskia Lippens (UGent) , Vincent Timmerman and Sophie Janssens (UGent)

(2016) ACTA NEUROPATHOLOGICA. 131(4). p.505-523

Academic Bibliography

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

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export

Loss of DPP6 in neurodegenerative dementia : a genetic player in the dysfunction of neuronal excitability

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease

Inside out : the role of nucleocytoplasmic transport in ALS and FTLD

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease

Mitochondria-associated membranes as hubs for neurodegeneration

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