Tutto DSpace

Sfoglia per Soggetto "Amyotrophic Lateral Sclerosis"

Items 1-15 di 15

    • 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 ...

    • CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis 

      Siokas V., Karampinis E., Aloizou A.-M., Mentis A.-F.A., Liakos P., Papadimitriou D., Liampas I., Nasios G., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2021)
      Background: Genetic variability is considered to confer susceptibility to amyotrophic lateral sclerosis (ALS). Oxidative stress is a significant contributor to ALS-related neurodegeneration, and it is regulated by cytochromes ...

    • ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population 

      Dardiotis E., Karampinis E., Siokas V., Aloizou A.-M., Rikos D., Ralli S., Papadimitriou D., Bogdanos D.P., Hadjigeorgiou G.M. (2019)
      Background: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect ...

    • Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants 

      Dardiotis E., Siokas V., Sokratous M., Tsouris Z., Michalopoulou A., Andravizou A., Dastamani M., Ralli S., Vinceti M., Tsatsakis A., Hadjigeorgiou G.M. (2018)
      Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease of the central nervous system, characterized by progressive loss of motor neurons, and occurring in both sporadic and familial form. The origin of ...

    • Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients 

      Mitropoulos K., Papadima E.M., Xiromerisiou G., Balasopoulou A., Charalampidou K., Galani V., Zafeiri K.-V., Dardiotis E., Ralli S., Deretzi G., John A., Kydonopoulou K., Papadopoulou E., Di Pardo A., Akcimen F., Loizedda A., Dobriĉić V., Novaković I., Kostic V.S., Mizzi C., Peters B.A., Basak N., Orrù S., Kiskinis E., Cooper D.N., Gerou S., Drmanac R., Bartsakoulia M., Tsermpini E.-E., Hadjigeorgiou G.M., Ali B.R., Katsila T., Patrinos G.P. (2017)
      Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted ...

    • Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis 

      Siokas V., Aloizou A.-M., Liampas I., Bakirtzis C., Nasios G., Paterakis K., Sgantzos M., Bogdanos D.P., Spandidos D.A., Tsatsakis A., Mitsias P.D., Dardiotis E. (2022)
      Amyotrophic lateral sclerosis (AL S) is a progressive neurodegenerative disease. Through a genome-wide association study (GWAS), the Sec1 family domain-containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged ...

    • Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis 

      Siokas V., Aloizou A.-M., Liampas I., Tsouris Z., Mentis A.-F.A., Nasios G., Papadimitriou D., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2021)
      Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease. Inflammatory processes are among the mechanisms that are implicated in ALS pathogenesis. The TREM2 rs75932628 T variant may influence the ...

    • MOBP rs616147 polymorphism and risk of amyotrophic lateral sclerosis in a greek population: A case-control study 

      Liampas I., Siokas V., Aloizou A.-M., Bakirtzis C., Tsouris Z., Nousia A., Nasios G., Papadimitriou D., Liakos P., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2021)
      Background and Objectives: To date, only one study has investigated the association between the rs616147 polymorphism of the Myelin-associated Oligodendrocyte Basic Protein (MOBP) locus and Amyotrophic Lateral Sclerosis ...

    • Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease 

      Siokas V., Aloizou A.-M., Liampas I., Bakirtzis C., Tsouris Z., Sgantzos M., Liakos P., Bogdanos D.P., Hadjigeorgiou G.M., Dardiotis E. (2022)
      BACKGROUND: The rs616147 polymorphism of the myelin-associated oligodendrocyte basic protein (MOBP) gene locus has been associated with amyotrophic lateral sclerosis (ALS). ALS and Parkinson's disease (PD) are two common ...

    • 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 ...

    • 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 ...

    • Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS 

      Sokratous M., Lucia S., Bourinaris T., Marogianni C., Arnaoutoglou M., Patrikiou E., Ralli S., Markou A., Dardiotis E., Houlden H., Hadjigeorgiou G.M., Xiromerisiou G. (2020)
      A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was ...

    • The Role of MicroRNAs in Patients with Amyotrophic Lateral Sclerosis 

      Dardiotis E., Aloizou A.-M., Siokas V., Patrinos G.P., Deretzi G., Mitsias P., Aschner M., Tsatsakis A. (2018)
      Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease that affects motor neurons and leads to death within 2 to 3 years after the first symptoms manifest. MicroRNAs (miRNAs) are small non-coding RNA ...

    • 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 ...