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Auflistung Nach Schlagwort "Frontotemporal Dementia"

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    • Cell environment shapes TDP-43 function with implications in neuronal and muscle disease 

      Šušnjar U., Škrabar N., Brown A.-L., Abbassi Y., Phatnani H., Phatnani H., Fratta P., 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., Berry J.D., Butovsky O., Baloh R.H., Shalem O., Heiman-Patterson T., Stefanis L., Chandran S., Pal S., Smith C., Malaspina A., Hammell M.G., Patsopoulos N.A., Dubnau J., Poss M., Zhang B., Zaitlen N., Hornstein E., Miller T.M., Dardiotis E., Bowser R., Menon V., Harms M., Atassi N., Lange D.J., MacGowan D.J., McMillan C., Aronica E., Harris B., Ravits J., Crary J., Thompson L.M., Raj T., Paganoni S., Adams D.J., Babu S., Drory V., Gotkine M., Broce I., Phillips-Cremins J., Nath A., Finkbeiner S., Cox G.A., Cortese A., Cereda C., Bugiardini E., Cardani R., Meola G., Ripolone M., Moggio M., Romano M., Secrier M., Fratta P., Buratti E., NYGC ALS Consortium (2022)
      TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle ...

    • Differences of apathy perfusion correlates between Alzheimer’s disease and frontotemporal dementia. A 99mTc-HMPAO SPECT study with automated Brodmann areas analysis 

      Valotassiou V., Sifakis N., Tzavara C., Lykou E., Tsinia N., Kamtsadeli V., Sali D., Angelidis G., Psimadas D., Tsougos I., Papageorgiou S.G., Georgoulias P., Papatriantafyllou J. (2022)
      Objectives: To explore differences of apathy perfusion correlates between Alzheimer’s disease (AD) and Frontotemporal dementia (FTD) using perfusion SPECT. Methods: We studied 75 FTD and 66 AD patients. We evaluated apathy ...

    • Differential diagnosis of behavioral variant and semantic variant of frontotemporal dementia using visual rating scales 

      Manouvelou S., Koutoulidis V., Tsougos I., Tolia M., Kyrgias G., Anyfantakis G., Moulopoulos L.-A., Gouliamos A., Papageorgiou S. (2020)
      Background: Frontotemporal dementia (FTD) represents the second most frequent early onset of dementia in people younger than 65 years. The main syndromes encompassed by the term FTD are behavioral variant of Frontotemporal ...

    • Eating Disorders in Frontotemporal Dementia and Alzheimer's Disease: Evaluation of Brain Perfusion Correlates Using 99mTc-HMPAO SPECT with Brodmann Areas Analysis 

      Valotassiou V., Sifakis N., Tzavara C., Lykou E., Tsinia N., Kamtsadeli V., Sali D., Angelidis G., Psimadas D., Tsougos I., Papageorgiou S.G., Georgoulias P., Papatriantafyllou J. (2021)
      Background: Eating disorders (ED) in dementia represent a significant impairment affecting patients' and caregivers' lives. In frontotemporal dementia (FTD), ED include overeating, sweet food preference, stereotypical ...

    • A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum 

      Mentis A.-F.A., Vlachakis D., Papakonstantinou E., Zaganas I., Patrinos G.P., Chrousos G.P., Dardiotis E. (2022)
      Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy ...

    • 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 ...