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Proceedings of the National Academy of Sciences of the United States of America|June 10, 2020
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of functionJosephine J Wu, Ashley Cai, Jessie E Greenslade, et al.Journal of the Neurological Sciences|May 27, 2025
The genetics of motor neuron disease in New ZealandMiran Mrkela, Miriam Rodrigues, Serey Naidoo, 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.Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.JAMA Neurology|August 30, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral SclerosisJanel O Johnson, Ruth Chia, Danny E Miller, et al.Pageof 5