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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.Brain : a Journal of Neurology|February 28, 2026
Constitutive neuronal expression and disease-associated upregulation of chitinases in amyotrophic lateral sclerosisNayana Gaur, Christin Angerer, Zeynep I Gunes, et al.The EMBO Journal|September 14, 2016
TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neuronsBenjamin M Schwenk, Hannelore Hartmann, Alperen Serdaroglu, et al.Acta Neuropathologica Communications|July 11, 2023
Targeting the glycine-rich domain of TDP-43 with antibodies prevents its aggregation in vitro and reduces neurofilament levels in vivoHenrick Riemenschneider, Francesca Simonetti, Udit Sheth, et al.EMBO Molecular Medicine|April 15, 2017
Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTDCarina Lehmer, Patrick Oeckl, Jochen H Weishaupt, et al.Neurobiology of Aging|August 9, 2014
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's diseaseCeleste Sassi, Rita Guerreiro, Raphael Gibbs, et al.Cell Stem Cell|May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsDavid A Parfitt, Amelia Lane, Conor M Ramsden, et al.Translational Psychiatry|February 2, 2019
FDG-PET underscores the key role of the thalamus in frontotemporal lobar degeneration caused by C9ORF72 mutationsJanine Diehl-Schmid, Abigail Licata, Oliver Goldhardt, et al.Cell Reports|December 3, 2013
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxicYoun-Bok Lee, Han-Jou Chen, João N Peres, et al.Acta Neuropathologica|April 15, 2017
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron lossMartin H Schludi, Lore Becker, Lillian Garrett, et al.Pageof 14