Ghent University Academic Bibliography

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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke (UGent) , Dae-In Chang, et al.

(2017) BRAIN. 140. p.287-305
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- Journal Article
- A1
- open access
TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker (UGent) , Jonathan Baets, et al.

(2017) HUMAN MUTATION. 38(3). p.297-309
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- Journal Article
- A2
- open access
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Jennifer Hirst, Marianna Madeo, Katrien Smets, James R Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken (UGent) , et al.

(2016) NEUROLOGY-GENETICS. 2(5).
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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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A pan-European study of the C9orf72 repeat associated with FTLD : geographic prevalence, genomic instability, and intermediate repeats

Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove (UGent) , Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben (UGent) , et al.

(2013) HUMAN MUTATION. 34(2). p.363-373

Academic Bibliography

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

TBK1 mutation spectrum in an extended European patient cohort with frontotemporal dementia and amyotrophic lateral sclerosis

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

A pan-European study of the C9orf72 repeat associated with FTLD : geographic prevalence, genomic instability, and intermediate repeats

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