Freischmidt, Axel

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Müller, K., Marroquin, N., Nordin, F., Hübers, A., Weydt, P., et al. (2015) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 786

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

van Rheenen, W., van der Spek, R. A. A., Bakker, M. K., van Vugt, J. J. F. A., Hop, P. J., Zwamborn, R. A. J., de Klein, N., Westra, H.-J., Bakker, O. B., Deelen, P., et al. (2021) · Nature Genetics

Amyotrophic Lateral Sclerosis ResearchGenetic Associations and Epidemiology

Cited by 542

TDP-43 is intercellularly transmitted across axon terminals

Feiler, M. S., Strobel, B., Freischmidt, A., Helferich, A. M., Kappel, J., Brewer, B. M., Li, D., Thal, D. R., Walther, P., Ludolph, A. C., et al. (2015) · Journal of Cell Biology

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 329

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

Naumann, M., Pal, A., Goswami, A., Lojewski, X., Japtok, J., Vehlow, A., Naujock, M., Günther, R., Jin, M., Stanslowsky, N., et al. (2018) · Nature Communications

Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative Diseases

Cited by 275

Peripheral monocytes are functionally altered and invade the CNS in ALS patients

Zondler, L., Müller, K., Khalaji, S., Bliederhäuser, C., Ruf, W. P., Grozdanov, V., Thiemann, M., Fundel-Clemes, K., Freischmidt, A., Holzmann, K., et al. (2016) · Acta Neuropathologica

Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration Mechanisms

Cited by 154

Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice

Brenner, D., Sieverding, K., Bruno, C., Lüningschrör, P., Buck, E., Mungwa, S., Fischer, L., Brockmann, S. J., Ulmer, J., Bliederhäuser, C., et al. (2019) · Journal of Experimental Medicine

Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatments

Cited by 83