Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav
Published in American journal of human genetics (12.08.2011)
Published in American journal of human genetics (12.08.2011)
Get full text
Journal Article
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study
Cuyvers, Elise, MSc, De Roeck, Arne, MSc, Van den Bossche, Tobi, MD, Van Cauwenberghe, Caroline, MSc, Bettens, Karolien, PhD, Vermeulen, Steven, MSc, Mattheijssens, Maria, BSc, Peeters, Karin, BSc, Engelborghs, Sebastiaan, Prof, Vandenbulcke, Mathieu, Prof, Vandenberghe, Rik, Prof, De Deyn, Peter P, Prof, Van Broeckhoven, Christine, Prof, Sleegers, Kristel, Prof
Published in Lancet neurology (01.08.2015)
Published in Lancet neurology (01.08.2015)
Get full text
Journal Article
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy
Sleegers, Kristel, Brouwers, Nathalie, Gijselinck, Ilse, Theuns, Jessie, Goossens, Dirk, Wauters, Jan, Del-Favero, Jurgen, Cruts, Marc, Duijn, Cornelia M. van, Broeckhoven, Christine Van
Published in Brain (London, England : 1878) (01.11.2006)
Published in Brain (London, England : 1878) (01.11.2006)
Get full text
Journal Article
The genetic landscape of Alzheimer disease: clinical implications and perspectives
Van Cauwenberghe, Caroline, Van Broeckhoven, Christine, Sleegers, Kristel
Published in Genetics in medicine (01.05.2016)
Published in Genetics in medicine (01.05.2016)
Get full text
Journal Article
The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics
De Roeck, Arne, Van Broeckhoven, Christine, Sleegers, Kristel
Published in Acta neuropathologica (01.08.2019)
Published in Acta neuropathologica (01.08.2019)
Get full text
Journal Article
NanoPack: visualizing and processing long-read sequencing data
De Coster, Wouter, D'Hert, Svenn, Schultz, Darrin T, Cruts, Marc, Van Broeckhoven, Christine
Published in Bioinformatics (01.08.2018)
Published in Bioinformatics (01.08.2018)
Get full text
Journal Article
TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila
Vanden Broeck, Lies, Naval-Sánchez, Marina, Adachi, Yoshitsugu, Diaper, Danielle, Dourlen, Pierre, Chapuis, Julien, Kleinberger, Gernot, Gistelinck, Marc, Van Broeckhoven, Christine, Lambert, Jean-Charles, Hirth, Frank, Aerts, Stein, Callaerts, Patrick, Dermaut, Bart
Published in Cell reports (Cambridge) (31.01.2013)
Published in Cell reports (Cambridge) (31.01.2013)
Get full text
Journal Article
Newest Methods for Detecting Structural Variations
De Coster, Wouter, Van Broeckhoven, Christine
Published in Trends in biotechnology (Regular ed.) (01.09.2019)
Published in Trends in biotechnology (Regular ed.) (01.09.2019)
Get full text
Journal Article
Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum
van der Zee, Julie, Sleegers, Kristel, Van Broeckhoven, Christine
Published in Neurology (07.10.2008)
Published in Neurology (07.10.2008)
Get more information
Journal Article
Molecular genetics of early-onset Alzheimer's disease revisited
Cacace, Rita, Sleegers, Kristel, Van Broeckhoven, Christine
Published in Alzheimer's & dementia (01.06.2016)
Published in Alzheimer's & dementia (01.06.2016)
Get full text
Journal Article
Genetic insights in Alzheimer's disease
Bettens, Karolien, PhD, Sleegers, Kristel, PhD, Van Broeckhoven, Christine, Prof
Published in Lancet neurology (2013)
Published in Lancet neurology (2013)
Get full text
Journal Article
Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis
Smolders, Stefanie, Van Broeckhoven, Christine
Published in Acta neuropathologica communications (06.05.2020)
Published in Acta neuropathologica communications (06.05.2020)
Get full text
Journal Article
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, Kohji, Weng, Shih-Ming, Arzberger, Thomas, May, Stephanie, Rentzsch, Kristin, Kremmer, Elisabeth, Schmid, Bettina, Kretzschmar, Hans A., Cruts, Marc, Van Broeckhoven, Christine, Haass, Christian, Edbauer, Dieter
Published in Science (American Association for the Advancement of Science) (15.03.2013)
Published in Science (American Association for the Advancement of Science) (15.03.2013)
Get full text
Journal Article
Relationship between C9orf72 repeat size and clinical phenotype
Van Mossevelde, Sara, van der Zee, Julie, Cruts, Marc, Van Broeckhoven, Christine
Published in Current opinion in genetics & development (01.06.2017)
Published in Current opinion in genetics & development (01.06.2017)
Get full text
Journal Article