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Annals of Neurology|September 29, 2025
Primary Lateral Sclerosis Natural History Study: Primary Lateral Sclerosis Functional Rating Scale and Other Outcomes AssessmentIkjae Lee, Grace Jang, Ying Kuen Ken Cheung, et al.Nature Neuroscience|April 2, 2014
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisJanel O Johnson, Erik P Pioro, Ashley Boehringer, et al.Science Translational Medicine|December 20, 2019
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiologyIrit Reichenstein, Chen Eitan, Sandra Diaz-Garcia, et al.Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.Neuron|November 26, 2020
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral SclerosisRamita Dewan, Ruth Chia, Jinhui Ding, et al.Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2022
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre studyMarianela Schiava, Chiseko Ikenaga, Rocío Nur Villar-Quiles, et al.Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.Nature Genetics|March 31, 2026
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosisPaul J Hop, Maarten Kooyman, Brendan J Kenna, et al.Nature Neuroscience|February 4, 2022
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell linesEmily G Baxi, Terri Thompson, Jonathan Li, et al.Neuron|March 24, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS GeneAude Nicolas, Kevin P Kenna, Alan E Renton, et al.Pageof 14