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Molecular Therapy. Methods & Clinical Development|November 28, 2025
Intrathalamic delivery of adeno-associated viral vector expressing progranulin as gene therapy for GRN-related frontotemporal dementiaYoun Bok Lee, Do Young Lee, Zoe Walker, et al.Brain : a Journal of Neurology|May 4, 2024
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementiaKyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, et al.Neuron|February 11, 2014
Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutationsNael H Alami, Rebecca B Smith, Monica A Carrasco, et al.Biorxiv : the Preprint Server for Biology|December 15, 2025
U7 small nuclear RNA splice-switching therapeutics for STMN2 and UNC13A in Amyotrophic Lateral SclerosisPuja R Mehta, Tomas Solomon, Sarah Pickles, et al.Neurobiology of Aging|April 17, 2013
Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeatAshley R Jones, Ione Woollacott, Aleksey Shatunov, 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.Proceedings of the National Academy of Sciences of the United States of America|March 28, 2012
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerabilityBilada Bilican, Andrea Serio, Sami J Barmada, et al.Science Translational Medicine|June 7, 2013
Comment on "Drug screening for ALS using patient-specific induced pluripotent stem cells"Bilada Bilican, Andrea Serio, Sami J Barmada, et al.Neuron|April 11, 2017
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor DevelopmentSwapna Thomas-Jinu, Patricia M Gordon, Triona Fielding, 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.Pageof 20