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Nature Neuroscience|January 9, 2019
Loss of TREM2 function increases amyloid seeding but reduces plaque-associated ApoESamira Parhizkar, Thomas Arzberger, Matthias Brendel, et al.Nature Communications|April 11, 2025
Correction of dysregulated lipid metabolism normalizes gene expression in oligodendrocytes and prolongs lifespan in female poly-GA C9orf72 miceAli Rezaei, Virág Kocsis-Jutka, Zeynep I Gunes, et al.Science (New York, N.Y.)|March 3, 2009
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Caroline Vance, Boris Rogelj, Tibor Hortobágyi, et al.Brain : a Journal of Neurology|September 22, 2018
A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegenerationDaniel A Solomon, Alan Stepto, Wing Hei Au, et al.Acta Neuropathologica|October 7, 2015
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72Marka van Blitterswijk, Tania F Gendron, Matthew C Baker, et al.Frontiers in Aging Neuroscience|March 31, 2018
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI StudySonja Schönecker, Christiane Neuhofer, Markus Otto, et al.Science Translational Medicine|June 5, 2024
Peripheral expression of brain-penetrant progranulin rescues pathologies in mouse models of frontotemporal lobar degenerationMarvin Reich, Matthew J Simon, Beate Polke, et al.Science (New York, N.Y.)|May 16, 2015
Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficitsJeannie Chew, Tania F Gendron, Mercedes Prudencio, et al.Nature Communications|June 7, 2024
Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic targetLucas Caldi Gomes, Sonja Hänzelmann, Fabian Hausmann, et al.Molecular Psychiatry|September 25, 2021
Clinico-genetic findings in 509 frontotemporal dementia patientsMatias Wagner, Georg Lorenz, Alexander E Volk, et al.Pageof 14