Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Autor: Federica Perrone, Rita Cacace, Julie van der Zee, Christine Van Broeckhoven

Publikováno v: Genome Medicine, Vol 13, Iss 1, Pp 1-13 (2021)

Abstract Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant deleterious mutations in causal

Externí odkaz: https://doaj.org/article/f86322bba726436f994db3a10d32e2f0

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability

Autor: 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, De Deyn, Peter P, van Swieten, John C, van Duijn, Cornelia M, van der Zee, Julie, Sleegers, Kristel, Van Broeckhoven, Christine, BELNEU Consortium, on behalf of the, Goeman, Johan, Crols, Roeland, Nuytten, Dirk, De Bleecker, Jan, Van Langenhove, Tim, Ivanoiu, Adrian, Deryck, Olivier, Bergmans, Bruno, Versijpt, Jan, Michotte, Alex, Delbeck, Jean, Willems, Christiana, De Klippel, Nina

Publikováno v: Acta Neuropathologica, 137(6), 901-918. Springer-Verlag
Acta neuropathologica, Vol. 137, no.6, p. 901-918 (2019)
Acta neuropathologica
ACTA NEUROPATHOLOGICA
Acta Neuropathologica

Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of neurodegeneration. In this study, we used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0871fef04474cf8beb8266b1be99ec3e
https://pure.eur.nl/en/publications/6c368d34-376f-4fc7-9742-cafa0efec608

Genotype-phenotype links in frontotemporal lobar degeneration

Autor: Christine Van Broeckhoven, Sebastiaan Engelborghs, Julie van der Zee, Sara Van Mossevelde

Publikováno v: Nature reviews : neurology

Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain diseases with highly heterogeneous clinical, neuropathological and genetic characteristics. This high degree of heterogeneity results from the presence of several

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fb0e3dd65358b74ff2aeb03fd95ee1d
https://pubmed.ncbi.nlm.nih.gov/29777184

Standardization of a Method for Diagnostic Biomarker Validation for Neurodegenerative Diseases: APP Assays As Example

Autor: van Waalwijk van Doorn, Linda, Koel-Simmelink, Marleen J A, Hausmann, U., Klafki, H., Struyfs, H, Linning, P., Knoelker, H.J., Twaalfhoven, H., Kuiperij, H.B., Vanmechelen, E., Verbeek, M., Engelborghs, Sebastiaan, Wiltfang, J., Teunissen, C.E.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3848::7beca5bd088354aac40b32e9344a04fc
https://biblio.vub.ac.be/vubir/standardization-of-a-method-for-diagnostic-biomarker-validation-for-neurodegenerative-diseases-app-assays-as-example(8bed8293-6b4a-4b58-a981-2401ef2568c7).html

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