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Brain : a Journal of Neurology|August 8, 2007
A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorderVeerle Bogaerts, Sebastiaan Engelborghs, Samir Kumar-Singh, et al.American Journal of Human Genetics|August 9, 2011
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosisLenka Nosková, Viktor Stránecký, Hana Hartmannová, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 7, 2013
Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutationMarc Suárez-Calvet, Oriol Dols-Icardo, Albert Lladó, et al.Neurobiology of Aging|December 11, 2007
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALSIlse Gijselinck, Kristel Sleegers, Sebastiaan Engelborghs, et al.Brain : a Journal of Neurology|February 24, 2006
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLDJulie van der Zee, Rosa Rademakers, Sebastiaan Engelborghs, et al.International Journal of Molecular Sciences|December 24, 2021
Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease GeneLuisa Benussi, Antonio Longobardi, Cemile Kocoglu, et al.Alzheimer'S Research & Therapy|January 27, 2018
Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one familyAnne Sieben, Sara Van Mossevelde, Eline Wauters, et al.Proceedings of the National Academy of Sciences of the United States of America|March 5, 2013
Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowthBettina Schmid, Alexander Hruscha, Sebastian Hogl, et al.Human Molecular Genetics|March 13, 2010
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutationsHazel Urwin, Astrid Authier, Jorgen E Nielsen, et al.Journal of Neuropathology and Experimental Neurology|June 12, 2018
Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion MutationOscar Ramos-Campoy, Rainiero Ávila-Polo, Oriol Grau-Rivera, et al.Pageof 11