John Ravits, MD

Affiliations: 
Neurology University of California, San Diego, La Jolla, CA 
Area:
Amyotrophic Lateral sclerosis
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"John Ravits"
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Publications

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Tazelaar GHP, Hop PJ, Seelen M, et al. (2022) Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis. Neurobiology of Aging. 122: 76-87
Krach F, Wheeler EC, Regensburger M, et al. (2022) Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. Acta Neuropathologica
Gilley J, Jackson O, Pipis M, et al. (2021) Enrichment of alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Elife. 10
Diaz-Garcia S, Ko VI, Vazquez-Sanchez S, et al. (2021) Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis. Acta Neuropathologica
Johnson JO, Chia R, Miller DE, et al. (2021) Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. Jama Neurology
Aladesuyi Arogundade O, Nguyen S, Leung R, et al. (2021) Nucleolar stress in C9orf72 and sporadic ALS spinal motor neurons precedes TDP-43 mislocalization. Acta Neuropathologica Communications. 9: 26
Ho R, Workman MJ, Mathkar P, et al. (2020) Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures. Cell Systems
Hor JH, Santosa MM, Lim VJW, et al. (2020) ALS motor neurons exhibit hallmark metabolic defects that are rescued by SIRT3 activation. Cell Death and Differentiation
Miller T, Cudkowicz M, Shaw PJ, et al. (2020) Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for ALS. The New England Journal of Medicine. 383: 109-119
Brizzi KT, Bridges JFP, Yersak J, et al. (2020) Understanding the needs of people with ALS: a national survey of patients and caregivers. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-9
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