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Displaying 12 results.
    • Journal article
    Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
    Cacace, Rita Heeman, Bavo Van Mossevelde, Sara De Roeck, Arne Hoogmartens, Julie De Rijk, Peter Gossye, Helena De Vos, Kristof De Coster, Wouter Strazisar, Mojca De Baets, Greet Schymkowitz, Joost Rousseau, Frederic Geerts, Nathalie De Pooter, Tim Peeters, Karin Sieben, Anne Martin, Jean-Jacques Engelborghs, Sebastiaan Salmon, Eric Santens, Patrick Vandenberghe, Rik Cras, Patrick P De Deyn, Peter C van Swieten, John M van Duijn, Cornelia van der Zee, Julie Sleegers, Kristel Van Broeckhoven, Christine BELNEU Consortium (2019) Acta neuropathologica — Vol. 137, no.6, p. 901-918 (2019)
    • Journal article
    Focal myopathy associated with chronic intramuscular injection of piritramide
    Van den Bergh, Peter[UCL] Guettat, Lamia[UCL] Vande Berg, Bruno[UCL] Martin, Jean-Jacques (1997) Muscle & Nerve — Vol. 20, no. 12, p. 1598-600 (1997)
    • Journal article
    Clinical variability and onset age modifiers in an extended Belgian GRN founder family.
    Wauters, Eline Van Mossevelde, Sara Sleegers, Kristel van der Zee, Julie Engelborghs, Sebastiaan Sieben, Anne Vandenberghe, Rik Philtjens, Stéphanie Van den Broeck, Marleen Peeters, Karin Cuijt, Ivy De Coster, Wouter Van Langenhove, Tim Santens, Patrick Ivanoiu, Adrian[UCL] Cras, Patrick De Bleecker, Jan L Versijpt, Jan Crols, Roeland De Klippel, Nina Martin, Jean-Jacques De Deyn, Peter P Cruts, Marc Van Broeckhoven, Christine Belgian Neurology (BELNEU) Consortium (2018) Neurobiology of Aging — Vol. 67, p. 84-94 (2018)
    • Journal article
    Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
    Van Mossevelde, Sara van der Zee, Julie Gijselinck, Ilse Engelborghs, Sebastiaan Sieben, Anne Van Langenhove, Tim De Bleecker, Jan Baets, Jonathan Vandenbulcke, Mathieu Van Laere, Koen Ceyssens, Sarah Van den Broeck, Marleen Peeters, Karin Mattheijssens, Maria Cras, Patrick Vandenberghe, Rik De Jonghe, Peter Martin, Jean-Jacques De Deyn, Peter P Cruts, Marc Van Broeckhoven, Christine Belgian Neurology consortium Ivanoiu, Adrian[UCL] (2016) Brain : a journal of neurology — Vol. 139, no.2, p. 452-467 (2016)
    • Journal article
    Clinical Evidence of Disease Anticipation in Families Segregating aC9orf72Repeat Expansion
    Van Mossevelde, Sara van der Zee, Julie Gijselinck, Ilse Sleegers, Kristel De Bleecker, Jan Sieben, Anne Vandenberghe, Rik Van Langenhove, Tim Baets, Jonathan Deryck, Olivier Santens, Patrick Ivanoiu, Adrian[UCL] Willems, Christiana Bäumer, Veerle Van den Broeck, Marleen Peeters, Karin Mattheijssens, Maria De Jonghe, Peter Cras, Patrick Martin, Jean-Jacques Cruts, Marc De Deyn, Peter P. Engelborghs, Sebastiaan Van Broeckhoven, Christine (2017) JAMA Neurology — Vol. 74, no. 4, p. 445-452 (2017)
    • Journal article
    Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
    Schnitzler, Lukas J Schreckenbach, Tobias Nadaj-Pakleza, Aleksandra Stenzel, Werner Rushing, Elisabeth J Van Damme, Philip Ferbert, Andreas Petri, Susanne Hartmann, Christian Bornemann, Antje Meisel, Andreas Petersen, Jens A Tousseyn, Thomas Thal, Dietmar R Reimann, Jens De Jonghe, Peter Martin, Jean-Jacques Van den Bergh, Peter Y[UCL] Schulz, Jörg B Weis, Joachim Claeys, Kristl G (2017) Orphanet Journal of Rare Diseases — Vol. 12, no. 1, p. 86 [1-12] (2017)
    • Journal article
    POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
    Van Maldergem, Lionel Besse, Arnaud De Paepe, Boel Blakely, Emma L Appadurai, Vivek Humble, Margaret M Piard, Juliette Craig, Kate He, Langping Hella, Pierre Debray, François-Guillaume Martin, Jean-Jacques Gaussen, Marion Laloux, Patrice[UCL] Stevanin, Giovanni Van Coster, Rudy Taylor, Robert W Copeland, William C Mormont, Eric[UCL] Bonnen, Penelope E (2017) Annals of Clinical and Translational Neurology — Vol. 4, no. 1, p. 4-14 (2017)
    • Journal article
    The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
    Gijselinck, Ilse Van Mossevelde, Sara van der Zee, Julie Sieben, Anne Engelborghs, Sebastiaan De Bleecker, Jan Ivanoiu, Adrian[UCL] Deryck, Olivier Edbauer, Dieter Zhang, Ming Heeman, Bavo Bäumer, Veerle Van den Broeck, Marleen Mattheijssens, Maria Peeters, Karin Rogaeva, Ekaterina De Jonghe, Peter Cras, Patrick Martin, Jean-Jacques de Deyn, Peter Paul Cruts, Marc Van Broeckhoven, Christine (2016) Molecular Psychiatry — Vol. 21, no. 8, p. 1112-1124 (2016)
    • Journal article
    Distinct Clinical Characteristics of C9orf72 Expansion Carriers Compared With GRN, MAPT, and Nonmutation Carriers in a Flanders-Belgian FTLD Cohort.
    Van Langenhove, Tim van der Zee, Julie Gijselinck, Ilse Engelborghs, Sebastiaan Vandenberghe, Rik Vandenbulcke, Mathieu De Bleecker, Jan Sieben, Anne Versijpt, Jan Ivanoiu, Adrian[UCL] Deryck, Olivier Willems, Christiana Dillen, Lubina Philtjens, Stéphanie Maes, Githa Bäumer, Veerle Van Den Broeck, Marleen Mattheijssens, Maria Peeters, Karin Martin, Jean-Jacques Michotte, Alex Santens, Patrick De Jonghe, Peter Cras, Patrick De Deyn, Peter P Cruts, Marc Van Broeckhoven, Christine (2013) JAMA Neurology — Vol. 70, no.3, p. 365-73 (2013)
    • Journal article
    Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.
    Dohrn, Maike F Röcken, Christoph De Bleecker, Jan L Martin, Jean-Jacques Vorgerd, Matthias Van den Bergh, Peter Y[UCL] Ferbert, Andreas Hinderhofer, Katrin Schröder, J Michael Weis, Joachim Schulz, Jörg B Claeys, Kristl G (2013) Journal of Neurology : official journal of the European Neurological Society — Vol. 260, no.12, p. 3093-3108 (2013)
    • Journal article
    Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
    Semmler, Anna-Lena Sacconi, Sabrina Bach, J Elisa Liebe, Claus Bürmann, Jan Kley, Rudolf A. Ferbert, Andreas Anderheiden, Roland Van den Bergh, Peter[UCL] Martin, Jean-Jacques De Jonghe, Peter Neuen-Jacob, Eva Müller, Oliver Deschauer, Marcus Bergmann, Markus Schröder, J. Michael Vorgerd, Matthias Schulz, Jörg B. Weis, Joachim Kress, Wolfram Claeys, Kristl G. (2014) Orphanet Journal of Rare Diseases — Vol. 9, p. 121 [1-13] (2014)
    • Journal article
    Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains
    Janssens, Jonathan Philtjens, Stéphanie Kleinberger, Gernot Van Mossevelde, Sara van der Zee, Julie Cacace, Rita Engelborghs, Sebastiaan Sieben, Anne Banzhaf-Strathmann, Julia Dillen, Lubina Merlin, Céline Cuijt, Ivy Robberecht, Caroline Schmid, Bettina Santens, Patrick Ivanoiu, Adrian[UCL] Vandenbulcke, Mathieu Vandenberghe, Rik Cras, Patrick De Deyn, Peter P. Martin, Jean-Jacques Maudsley, Stuart Haass, Christian Cruts, Marc Van Broeckhoven, Christine (2015) Acta Neuropathologica Communications — Vol. 3, no.1, p. 68 (2015)