Ghent University Academic Bibliography

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Your filters: cql: author="Philtjens, Stéphanie" or (type any "bookEditor issueEditor" and editor="Philtjens, Stépha...

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- Miscellaneous
- open access
Homozygous and compound heterozygous rare variants in VPS13C contribute to Lewy body diseases

Stefanie Smolders, Stéphanie Philtjens, David Crosiers, Anne Sieben (UGent) , Elisabeth Hens, Bavo Heeman, Sara Van Mossevelde, Philippe Pals, Bob Asselbergh, Roberto Dos Santos Dias, et al.

(2020) Research Square.
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- Journal Article
- A1
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Clinical variability and onset age modifiers in an extended Belgian GRN founder family

Eline Wauters, Sara Van Mossevelde, Kristel Sleegers, Julie van der Zee, Sebastiaan Engelborghs, Anne Sieben (UGent) , Rik Vandenberghe, Stephanie Philtjens, Marleen Van den Broeck, Karin Peeters, et al.

(2018) NEUROBIOLOGY OF AGING. 67. p.84-94
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- Journal Article
- A1
- open access
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Ilse Gijselinck, Sara Van Mossevelde, Julie van der Zee, Anne Sieben (UGent) , Stephanie Philtjens, Bavo Heeman, Sebastiaan Engelborghs, Mathieu Vandenbulcke, Greet De Baets, Veerle Baumer, et al.

(2015) NEUROLOGY. 85(24). p.2116-2125
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- Journal Article
- A1
- open access
Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Jonathan Janssens, Stephanie Philtjens, Gernot Kleinberger, Sara Van Mossevelde, Julie van der Zee, Rita Cacace, Sebastiaan Engelborghs, Anne Sieben (UGent) , Julia Banzhaf-Strathmann, Lubina Dillen, et al.

(2015) ACTA NEUROPATHOLOGICA COMMUNICATIONS. 3.
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Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

Elise Cuyvers, Karolien Bettens, Stéphanie Philtjens, Tim Van Langenhove (UGent) , Ilse Gijselinck, Julie van der Zee, Sebastiaan Engelborghs, Mathieu Vandenbulcke, Jasper Van Dongen, Nathalie Geerts, et al.

(2014) NEUROBIOLOGY OF AGING. 35(3). p.726.e11-726.e19
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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
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Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

Tim Van Langenhove (UGent) , Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Rik Vandenberghe, Mathieu Vandenbulcke, Jan De Bleecker (UGent) , Anne Sieben (UGent) , Jan Versijpt, Adrian Ivanoiu, et al.

(2013) JAMA NEUROLOGY. 70(3). p.365-373
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- Conference Paper
- C3
Identification of novel causal genes for frontotemporal lobar degeneration using whole genome sequencing

Stephanie Philtjens, Ilse Gijselinck, Tim Van Langenhove (UGent) , Julie van der Zee, Sebastiaan Engelborgs, Rik Vandenberghe, Matthieu Vandenbulcke, Patrick Santens (UGent) , Peter De Deyn, Christine Van Broeckhoven, et al.

(2012) DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. 33(suppl. 1). p.257-258
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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum : a gene identification study

Ilse Gijselinck, Tim Van Langenhove (UGent) , Julie van der Zee, Kristel Sleegers, Stephanie Philtjens, Gernot Kleinberger, Jonathan Janssens, Karolien Bettens, Caroline Van Cauwenberghe, Sandra Pereson, et al.

(2012) LANCET NEUROLOGY. 11(1). p.54-65

Academic Bibliography

Homozygous and compound heterozygous rare variants in VPS13C contribute to Lewy body diseases

Clinical variability and onset age modifiers in an extended Belgian GRN founder family

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

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

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

Identification of novel causal genes for frontotemporal lobar degeneration using whole genome sequencing

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum : a gene identification study

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