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Poster Communications Themes

Theme 02 - Genetics and Genomics

References

  • Ton Fang, Goun Je, Peter Pacut, et al. Gene therapy in amyotrophic lateral sclerosis. Cells. 2022;11(13):2066.
  • Jie Zhang, An Wen, Wen Chai, et al. Potential proteomic alteration in the brain of Tg(SOD1*G93A)1Gur mice: a new pathogenesis insight of amyotrophic lateral sclerosis. Cell Biol Int. 2022.

Reference

  • Erfanian Omidvar M, Torkamandi S, Rezaei S, et al. Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. J Neurol. 2021;268(6): 2065–82.

References

Reference

  • Sabatelli M, Eusebi F, Al-Chalabi A, et al. Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009;18(20):3997–4006.

References

Reference

  • Van Rheenen W, Van Der Spek RA, Bakker MK, et al. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nature Genetics. 2021;53:1636–48.

References

References

Reference

  • Richards S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

References

Reference

References

  • Sasaki S, Iwata M. Impairment of fast axonal transport in the proximal axons of anterior horn neurons in amyotrophic lateral sclerosis. Neurology. 1996;47(2):535–40.
  • OkadaY, Yamazaki H, Sekine-Aizawa Y, Hirokawa N. The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. Cell. 1995;81(5):769–80.
  • Tanaka Y, Niwa S, Dong M, et al. The molecular motor KIF1A transports the TrkA neurotrophin receptor and is essential for sensory neuron survival and function. Neuron. 2016;90(6):1215–29.
  • Nicolas A, Kenna KP, Renton AE, et al. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron. 2018;97(6):1268–83.e6.

References

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