Recent Publications

Soule, TG, Pontifex, CS, Rosin, N, Joel, MM, Lee, S, Nguyen, MD et al.. A protocol for single nucleus RNA-seq from frozen skeletal muscle. Life Sci Alliance. 2023.6 (5) PMID:36914268

Orton, SM, Sangha, A, Gupta, M, Martens, K, Metz, LM, de Koning, APJ et al.. Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis. Front Neurol. 2022.13 1064008 PMID:36644209

Perera, T, Bencsik, C, Pfeffer, G, Mobach, T. New SOD1 Mutation Causing Rapid Amyotrophic Lateral Sclerosis with Nerve Root Enhancement. Can J Neurol Sci. 2022. 1-3 PMID:36321541

Miller, TM, Cudkowicz, ME, Genge, A, Shaw, PJ, Sobue, G, Bucelli, RC et al.. Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. N Engl J Med. 2022.387 (12)1099-1110 PMID:36129998

Joel, MM, Pontifex, C, Martens, K, Chhibber, S, de Koning, J, Pfeffer, G et al.. Transcriptome analysis from muscle biopsy tissues in late-onset myopathies identifies potential biomarkers correlating to muscle pathology. Neuromuscul Disord. 2022.32 (8)643-653 PMID:35850946

Jacob, S, Kapadia, R, Soule, T, Luo, H, Schellenberg, KL, Douville, RN et al.. Neuromuscular Complications of SARS-CoV-2 and Other Viral Infections. Front Neurol. 2022.13 914411 PMID:35812094

Pfeffer, G, Lee, G, Pontifex, CS, Fanganiello, RD, Peck, A, Weihl, CC et al.. Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis. Genes (Basel). 2022.13 (6) PMID:35741724

Henriques, BC, Buchner, A, Hu, X, Wang, Y, Yavorskyy, V, Wallace, K et al.. Correction: Methodology for clinical genotyping of CYP2D6 and CYP2C19. Transl Psychiatry. 2022.12 (1)94 PMID:35260547

Maroilley, T, Wright, NAM, Diao, C, MacLaren, L, Pfeffer, G, Sarna, JR et al.. Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia. Front Genet. 2022.13 815210 PMID:35145552