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    • New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis 

      Pampalakis G., Mitropoulos K., Xeromerisiou G., Dardiotis E., Deretzi G., Anagnostouli M., Katsila T., Rentzos M., Patrinos G.P. (2019)
      Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5–10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early ...

    • TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A 

      Brown A.-L., Wilkins O.G., Keuss M.J., Hill S.E., Zanovello M., Lee W.C., Bampton A., Lee F.C.Y., Masino L., Qi Y.A., Bryce-Smith S., Gatt A., Hallegger M., Fagegaltier D., Phatnani H., Phatnani H., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Shneider N.A., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Miller T.M., Chandran S., Pal S., Hornstein E., MacGowan D.J., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Butovsky O., Dubnau J., Nath A., Bowser R., Harms M., Aronica E., Poss M., Phillips-Cremins J., Crary J., Atassi N., Lange D.J., Adams D.J., Stefanis L., Gotkine M., Baloh R.H., Babu S., Raj T., Paganoni S., Shalem O., Smith C., Zhang B., Harris B., Broce I., Drory V., Ravits J., McMillan C., Menon V., Wu L., Altschuler S., Lerner Y., Sattler R., Van Keuren-Jensen K., Rozenblatt-Rosen O., Lindblad-Toh K., Nicholson K., Gregersen P., Lee J.-H., Kokos S., Muljo S., Newcombe J., Gustavsson E.K., Seddighi S., Reyes J.F., Coon S.L., Ramos D., Schiavo G., Fisher E.M.C., Raj T., Secrier M., Lashley T., Ule J., Buratti E., Humphrey J., Ward M.E., Fratta P., NYGC ALS Consortium (2022)
      Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding ...

    • Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism 

      Conlon E.G., Fagegaltier D., Agius P., Davis-Porada J., Gregory J., Hubbard I., Kang K., Kim D., Phatnani H., Shneider N.A., Manley J.L., Kwan J., Sareen D., Broach J.R., Simmons Z., Arcila-Londono X., Lee E.B., Van Deerlin V.M., Fraenkel E., Ostrow L.W., Baas F., Zaitlen N., Berry J.D., Malaspina A., Fratta P., Cox G.A., Thompson L.M., Finkbeiner S., Dardiotis E., Miller T.M., Chandran S., Pal S., Hornstein E., Macgowan D.J., Heiman-Patterson T., Hammell M.G., Patsopoulos N.A., Dubnau J., Nath A., The New York Genome Center ALS Consortium (2018)
      Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends of a disease spectrum with shared clinical, genetic and pathological features. These include near ubiquitous pathological inclusions ...