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Experimental Gerontology|June 19, 2012
The need to unify neuropathological assessments of vascular alterations in the ageing brain: multicentre survey by the BrainNet Europe consortiumIrina Alafuzoff, Ellen Gelpi, Safa Al-Sarraj, et al.Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.The Lancet. Neurology|April 17, 2024
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association studyRebecca R Valentino, William J Scotton, Shanu F Roemer, et al.Journal of Neuropathology and Experimental Neurology|June 8, 2017
Multisite Assessment of Aging-Related Tau Astrogliopathy (ARTAG)Gabor G Kovacs, Sharon X Xie, Edward B Lee, et al.Acta Neuropathologica|December 15, 2015
Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategyGabor G Kovacs, Isidro Ferrer, Lea T Grinberg, et al.Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.Nature Genetics|March 13, 2026
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusionsWouter De Coster, Marleen Van den Broeck, Matt Baker, et al.Medrxiv : the Preprint Server for Health Sciences|May 10, 2023
Creating the Pick's disease International Consortium: Association study of <i>MAPT</i> H2 haplotype with risk of Pick's diseaseRebecca R Valentino, William J Scotton, Shanu F Roemer, et al.Pageof 9