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Page 1
TBK1 is associated with ALS and ALS-FTD in Sardinian patients.
Borghero G, Pugliatti M, Marrosu F, Marrosu MG, Murru MR, Floris G, Cannas A, Occhineri P, Cau TB, Loi D, Ticca A, Traccis S, Manera U, Canosa A, Moglia C, Calvo A, Barberis M, Brunetti M, Gibbs JR, Renton AE, Errichiello E, Zoledziewska M, Mulas A, Qian Y, Din J, Pliner HA, Traynor BJ, Chiò A; ITALSGEN and SARDINALS Consortia. Borghero G, et al. Among authors: zoledziewska m. Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9. Neurobiol Aging. 2016. PMID: 27156075 Free PMC article.
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
Sanna S, Pitzalis M, Zoledziewska M, Zara I, Sidore C, Murru R, Whalen MB, Busonero F, Maschio A, Costa G, Melis MC, Deidda F, Poddie F, Morelli L, Farina G, Li Y, Dei M, Lai S, Mulas A, Cuccuru G, Porcu E, Liang L, Zavattari P, Moi L, Deriu E, Urru MF, Bajorek M, Satta MA, Cocco E, Ferrigno P, Sotgiu S, Pugliatti M, Traccis S, Angius A, Melis M, Rosati G, Abecasis GR, Uda M, Marrosu MG, Schlessinger D, Cucca F. Sanna S, et al. Among authors: zoledziewska m. Nat Genet. 2010 Jun;42(6):495-7. doi: 10.1038/ng.584. Epub 2010 May 9. Nat Genet. 2010. PMID: 20453840 Free PMC article.
The burden of multiple sclerosis variants in continental Italians and Sardinians.
Barizzone N, Zara I, Sorosina M, Lupoli S, Porcu E, Pitzalis M, Zoledziewska M, Esposito F, Leone M, Mulas A, Cocco E, Ferrigno P, Guerini FR, Brambilla P, Farina G, Murru R, Deidda F, Sanna S, Loi A, Barlassina C, Vecchio D, Zauli A, Clarelli F, Braga D, Poddie F, Cantello R, Martinelli V, Comi G, Frau J, Lorefice L, Pugliatti M, Rosati G; PROGEMUS (PROgnostic GEnetic factors in MUltiple Sclerosis) Consortium PROGRESSO (Italian network of Primary Progressive Multiple Sclerosis) Consortium; Melis M, Marrosu MG, Cusi D, Cucca F, Martinelli Boneschi F, Sanna S, D'Alfonso S. Barizzone N, et al. Among authors: zoledziewska m. Mult Scler. 2015 Oct;21(11):1385-95. doi: 10.1177/1352458515596599. Mult Scler. 2015. PMID: 26438306
Overexpression of the Cytokine BAFF and Autoimmunity Risk.
Steri M, Orrù V, Idda ML, Pitzalis M, Pala M, Zara I, Sidore C, Faà V, Floris M, Deiana M, Asunis I, Porcu E, Mulas A, Piras MG, Lobina M, Lai S, Marongiu M, Serra V, Marongiu M, Sole G, Busonero F, Maschio A, Cusano R, Cuccuru G, Deidda F, Poddie F, Farina G, Dei M, Virdis F, Olla S, Satta MA, Pani M, Delitala A, Cocco E, Frau J, Coghe G, Lorefice L, Fenu G, Ferrigno P, Ban M, Barizzone N, Leone M, Guerini FR, Piga M, Firinu D, Kockum I, Lima Bomfim I, Olsson T, Alfredsson L, Suarez A, Carreira PE, Castillo-Palma MJ, Marcus JH, Congia M, Angius A, Melis M, Gonzalez A, Alarcón Riquelme ME, da Silva BM, Marchini M, Danieli MG, Del Giacco S, Mathieu A, Pani A, Montgomery SB, Rosati G, Hillert J, Sawcer S, D'Alfonso S, Todd JA, Novembre J, Abecasis GR, Whalen MB, Marrosu MG, Meloni A, Sanna S, Gorospe M, Schlessinger D, Fiorillo E, Zoledziewska M, Cucca F. Steri M, et al. Among authors: zoledziewska m. N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528. N Engl J Med. 2017. PMID: 28445677 Free PMC article.
Genomic history of the Sardinian population.
Chiang CWK, Marcus JH, Sidore C, Biddanda A, Al-Asadi H, Zoledziewska M, Pitzalis M, Busonero F, Maschio A, Pistis G, Steri M, Angius A, Lohmueller KE, Abecasis GR, Schlessinger D, Cucca F, Novembre J. Chiang CWK, et al. Among authors: zoledziewska m. Nat Genet. 2018 Oct;50(10):1426-1434. doi: 10.1038/s41588-018-0215-8. Epub 2018 Sep 17. Nat Genet. 2018. PMID: 30224645 Free PMC article.
A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes.
Danjou F, Fozza C, Zoledziewska M, Mulas A, Corda G, Contini S, Dore F, Galleu A, Di Tucci AA, Caocci G, Gaviano E, Latte G, Gabbas A, Casula P, Delogu LG, La Nasa G, Angelucci E, Cucca F, Longinotti M. Danjou F, et al. Among authors: zoledziewska m. Exp Hematol. 2016 Nov;44(11):1034-1038. doi: 10.1016/j.exphem.2016.07.005. Epub 2016 Jul 21. Exp Hematol. 2016. PMID: 27449989 Free article.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F, Steri M, Orrù V, Sole G, Olla S, Marongiu M, Maschio A, Sidore C, Lai S, Mulas A, Zoledziewska M, Floris M, Pala M, Forabosco P, Asunis I, Pitzalis M, Deidda F, Masala M, Caria CA, Barella S, Abecasis GR, Schlessinger D, Sanna S, Fiorillo E, Cucca F. Busonero F, et al. Among authors: zoledziewska m. Br J Haematol. 2020 Dec;191(5):e124-e128. doi: 10.1111/bjh.17090. Epub 2020 Nov 20. Br J Haematol. 2020. PMID: 33216977 Free PMC article. No abstract available.
Genome-wide association study of susceptibility loci for breast cancer in Sardinian population.
Palomba G, Loi A, Porcu E, Cossu A, Zara I, Budroni M, Dei M, Lai S, Mulas A, Olmeo N, Ionta MT, Atzori F, Cuccuru G, Pitzalis M, Zoledziewska M, Olla N, Lovicu M, Pisano M, Abecasis GR, Uda M, Tanda F, Michailidou K, Easton DF, Chanock SJ, Hoover RN, Hunter DJ, Schlessinger D, Sanna S, Crisponi L, Palmieri G. Palomba G, et al. Among authors: zoledziewska m. BMC Cancer. 2015 May 10;15:383. doi: 10.1186/s12885-015-1392-9. BMC Cancer. 2015. PMID: 25956309 Free PMC article.
Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia.
Zoledziewska M, Costa G, Pitzalis M, Cocco E, Melis C, Moi L, Zavattari P, Murru R, Lampis R, Morelli L, Poddie F, Frongia P, Pusceddu P, Bajorek M, Marras A, Satta AM, Chessa A, Pugliatti M, Sotgiu S, Whalen MB, Rosati G, Cucca F, Marrosu MG. Zoledziewska M, et al. Genes Immun. 2009 Jan;10(1):15-7. doi: 10.1038/gene.2008.84. Epub 2008 Oct 23. Genes Immun. 2009. PMID: 18946483
Population- and individual-specific regulatory variation in Sardinia.
Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB. Pala M, et al. Among authors: zoledziewska m. Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10. Nat Genet. 2017. PMID: 28394350 Free PMC article.
64 results