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Poster Communications Themes

Theme 02 - Genetics and Genomics

References

Reference

  • Smith BN, Topp SD, Fallini C et al. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Transl Med. 2017;9(388):eaad9157.

References

  • Loyfer, N., Magenheim, J., Peretz, A. et al. A DNA methylation atlas of normal human cell types. Nature. 2023;613:355–64.
  • Robichaud, P-P., Arseneault, M., O'Connell, C. et al. Circulating cell-free DNA as potential diagnostic tools for amyotrophic lateral sclerosis. Neurosci Lett. 2021;750:135813.
  • Caggiano, C., Celona, B., Garton, F. et al. Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nat Commun. 2021;12:2717.

References

References

  • Brenner D, Yilmaz R, Müller K, et al. Hot-spot KIF5A mutations cause familial ALS. Brain. 2018;141(3):688–97.
  • Kenna KP, Van Doormaal PT, Dekker AM, et al. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genetics. 2016;48(9):1037.
  • Dekker AM, Diekstra FP, Pulit SL, et al. Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis. Scientific Reports. 2019;9(1):5931.
  • Van Rheenen W, Shatunov A, Dekker AM, et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nature Genetics. 2016;48:1043.
  • 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

  • Majounie E, Renton A, Waite A, et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol. 2012;11(4):323–30.
  • Marangi G, Traynor BJ. Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges. Brain Res. 2015;14:75–93.

Reference

  • Dorst J, Weydt P, Brenner D, et al. Metabolic alterations precede neurofilament changes in presymptomatic ALS gene carriers. Ebiomedicine. 2023;90:104521.

References

Reference

References

  • Al-Chalabi A, Hardiman O. The epidemiology of ALS: a conspiracy of genes, environment and time. Nature Rev Neurol. 2013;9(11):617–28.
  • Chia R, Chiò A, Traynor BJ. Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications. Lancet Neurol. 2018;17(1):94–102.
  • Salmon K, Kiernan MC, Kim SH, et al. The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis. Brain. 2022 May 24;145(4):1207–1210.

References

References

References

  • Hogden A, Crook A. Patient-centered decision making in amyotrophic lateral sclerosis: where are we? Neurodegenerative disease management. 2017;7(6):377–86.
  • Roggenbuck J, Eubank B, Wright J, Kolb SJ, Harms MB. Proceedings of the 21st Annual Meeting of the Northeast ALS Consortium, in muscle & nerve, Vol. 66, pp. S1–S1, NJ, USA, Wiley, 111 River St, Hoboken 07030-5774, 2022.

References

  • Orban, P. et al. Handbook of clinical neurology. 2007.
  • Johnson, J., Chia, R., Miller, D.E. et al. JAMA Neurol. 2021;78(10):1236–1248.
  • Laptev, I., Shvetsova, E, Levitskii, S. RNA Biol. 2020 Apr;17(4):441–450.
  • Powell, C.A., Minczuk, M. et al. RNA Biol. 2020;17(4): 451–462.

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