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Muscle & Nerve|December 19, 2020
Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trialMichael D Weiss, Eric A Macklin, Courtney E McIlduff, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 31, 2013
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degenerationClotilde Lagier-Tourenne, Michael Baughn, Frank Rigo, et al.
American Journal of Human Genetics|September 3, 2016
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesMichaela Auer-Grumbach, Stefan Toegel, Maria Schabhüttl, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.
Lancet (London, England)|May 25, 2025
Antisense oligonucleotide jacifusen for FUS-ALS: an investigator-initiated, multicentre, open-label case seriesNeil A Shneider, Matthew B Harms, Vlad A Korobeynikov, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 10, 2023
Clinical testing panels for ALS: global distribution, consistency, and challengesAllison A Dilliott, Ahmad Al Nasser, Marwa Elnagheeb, et al.
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Neurology|January 23, 2015
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophyMariacristina Scoto, Alexander M Rossor, Matthew B Harms, et al.
Medrxiv : the Preprint Server for Health Sciences|May 18, 2026
The New York Genome Center ALS Consortium resource integrates postmortem tissue transcriptomics and whole genome sequencing to empower biological discoveryJack Humphrey, Ali Oku, Marta Byrska-Bishop, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
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