Ghent University Academic Bibliography

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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 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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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
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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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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Julie van der Zee, Tim Van Langenhove (UGent) , Gabor G Kovacs, Lubina Dillen, William Deschamps, Sebastiaan Engelborghs, Radoslav Matěj, Mathieu Vandenbulcke, Anne Sieben (UGent) , Bart Dermaut (UGent) , et al.

(2014) ACTA NEUROPATHOLOGICA. 128(3). p.397-410
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The genetics and neuropathology of frontotemporal lobar degeneration

Anne Sieben (UGent) , Tim Van Langenhove (UGent) , Sebastiaan Engelborghs, Jean-Jacques Martin, Paul Boon (UGent) , Patrick Cras, Peter-Paul De Deyn, Patrick Santens (UGent) , Christine Van Broeckhoven and Marc Cruts

(2012) ACTA NEUROPATHOLOGICA. 124(3). p.353-372
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TNF alpha receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice

Boel De Paepe (UGent) , Guy Brusselle (UGent) , Tania Maes (UGent) , Kim Creus (UGent) , Sophie D'hose (UGent) , Nele D'Haese, Ken Bracke (UGent) , An D'hulst, Guy Joos (UGent) and Jan De Bleecker (UGent)

(2008) ACTA NEUROPATHOLOGICA. 115(6). p.675-681

Academic Bibliography

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 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

Mitochondria-associated membranes as hubs for neurodegeneration

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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

The genetics and neuropathology of frontotemporal lobar degeneration

TNF alpha receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice

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