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Page 1
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.
Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SA, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E. Bruni AC, et al. Among authors: mirabelli m. Neurology. 2007 Jul 10;69(2):140-7. doi: 10.1212/01.wnl.0000265220.64396.b4. Neurology. 2007. PMID: 17620546
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.
Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Costanzo A, Colao R, Puccio G, Frangipane F, Curcio SA, Mirabelli M, Smirne N, Iapaolo D, Maletta RG, Bruni AC. Bernardi L, et al. Among authors: mirabelli m. Neurobiol Aging. 2009 Nov;30(11):1825-33. doi: 10.1016/j.neurobiolaging.2008.01.005. Epub 2008 Mar 7. Neurobiol Aging. 2009. PMID: 18314228
Compound heterozygosity of 2 novel MAPT mutations in frontotemporal dementia.
Anfossi M, Vuono R, Maletta R, Virdee K, Mirabelli M, Colao R, Puccio G, Bernardi L, Frangipane F, Gallo M, Geracitano S, Tomaino C, Curcio SA, Zannino G, Lamenza F, Duyckaerts C, Spillantini MG, Losso MA, Bruni AC. Anfossi M, et al. Among authors: mirabelli m. Neurobiol Aging. 2011 Apr;32(4):757.e1-757.e11. doi: 10.1016/j.neurobiolaging.2010.12.013. Epub 2011 Feb 3. Neurobiol Aging. 2011. PMID: 21295377
Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.
Bernardi L, Frangipane F, Smirne N, Colao R, Puccio G, Curcio SA, Mirabelli M, Maletta R, Anfossi M, Gallo M, Geracitano S, Conidi ME, Di Lorenzo R, Clodomiro A, Cupidi C, Marzano S, Comito F, Valenti V, Zirilli MA, Ghani M, Xi Z, Sato C, Moreno D, Borelli A, Leone RA, St George-Hyslop P, Rogaeva E, Bruni AC. Bernardi L, et al. Among authors: mirabelli m. Neurobiol Aging. 2012 Dec;33(12):2948.e1-2948.e10. doi: 10.1016/j.neurobiolaging.2012.06.017. Epub 2012 Jul 20. Neurobiol Aging. 2012. PMID: 22819134 Free PMC article.
Novel N-terminal domain mutation in prion protein detected in 2 patients diagnosed with frontotemporal lobar degeneration syndrome.
Bernardi L, Cupidi C, Frangipane F, Anfossi M, Gallo M, Conidi ME, Vasso F, Colao R, Puccio G, Curcio SAM, Mirabelli M, Clodomiro A, Di Lorenzo R, Smirne N, Maletta R, Bruni AC. Bernardi L, et al. Among authors: mirabelli m. Neurobiol Aging. 2014 Nov;35(11):2657.e7-2657.e11. doi: 10.1016/j.neurobiolaging.2014.06.006. Epub 2014 Jun 14. Neurobiol Aging. 2014. PMID: 25022973
Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
Conidi ME, Bernardi L, Puccio G, Smirne N, Muraca MG, Curcio SA, Colao R, Piscopo P, Gallo M, Anfossi M, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Cupidi C, Torchia G, Di Lorenzo R, Mandich P, Confaloni A, Maletta RG, Bruni AC. Conidi ME, et al. Among authors: mirabelli m. Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6. Neurology. 2015. PMID: 25948718 Free PMC article.
The effects of APOE and tau gene variability on risk of frontotemporal dementia.
Bernardi L, Maletta RG, Tomaino C, Smirne N, Di Natale M, Perri M, Longo T, Colao R, Curcio SA, Puccio G, Mirabelli M, Kawarai T, Rogaeva E, St George Hyslop PH, Passarino G, De Benedictis G, Bruni AC. Bernardi L, et al. Among authors: mirabelli m. Neurobiol Aging. 2006 May;27(5):702-9. doi: 10.1016/j.neurobiolaging.2005.03.008. Neurobiol Aging. 2006. PMID: 15904995
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.
Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappatà S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G. Bruni AC, et al. Among authors: mirabelli m. Neurology. 2010 Mar 9;74(10):798-806. doi: 10.1212/WNL.0b013e3181d52785. Epub 2010 Feb 17. Neurology. 2010. PMID: 20164095 Free PMC article.
169 results