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Items: 23

1.

Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia.

Montesanto A, Crocco P, Dato S, Geracitano S, Frangipane F, Colao R, Maletta R, Passarino G, Bruni AC, Rose G.

Aging (Albany NY). 2018 Nov 13;10(11):3283-3293. doi: 10.18632/aging.101632.

2.

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Öijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R.

Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.

3.

Frequency of Cardiovascular Genetic Risk Factors in a Calabrian Population and Their Effects on Dementia.

Maletta R, Smirne N, Bernardi L, Anfossi M, Gallo M, Conidi ME, Colao R, Puccio G, Curcio SAM, Laganà V, Frangipane F, Cupidi C, Mirabelli M, Vasso F, Torchia G, Muraca MG, Di Lorenzo R, Rose G, Montesanto A, Passarino G, Bruni AC.

J Alzheimers Dis. 2018;61(3):1179-1187. doi: 10.3233/JAD-170687.

PMID:
29332048
4.

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

Gallo M, Frangipane F, Cupidi C, De Bartolo M, Turone S, Ferrari C, Nacmias B, Grimaldi G, Laganà V, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SAM, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Piccininni M, Tedde A, Maletta RG, Sorbi S, Bruni AC.

Neurobiol Aging. 2017 Aug;56:213.e7-213.e12. doi: 10.1016/j.neurobiolaging.2017.04.017. Epub 2017 Apr 27.

PMID:
28532646
5.

Role of Niemann-Pick Type C Disease Mutations in Dementia.

Cupidi C, Frangipane F, Gallo M, Clodomiro A, Colao R, Bernardi L, Anfossi M, Conidi ME, Vasso F, Curcio SA, Mirabelli M, Smirne N, Torchia G, Muraca MG, Puccio G, Di Lorenzo R, Zampieri S, Romanello M, Dardis A, Maletta RG, Bruni AC.

J Alzheimers Dis. 2017;55(3):1249-1259.

PMID:
27792009
6.

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.

Neurology. 2015 Jun 2;84(22):2266-73. doi: 10.1212/WNL.0000000000001648. Epub 2015 May 6.

7.

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.

Neurobiol Aging. 2014 Nov;35(11):2657.e7-2657.e11. doi: 10.1016/j.neurobiolaging.2014.06.006. Epub 2014 Jun 14.

PMID:
25022973
8.

Frontotemporal dementia and its subtypes: a genome-wide association study.

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, Nacmias B, Sorbi S, Bagnoli S, Piaceri I, Nielsen JE, Hjermind LE, Riemenschneider M, Mayhaus M, Ibach B, Gasparoni G, Pichler S, Gu W, Rossor MN, Fox NC, Warren JD, Spillantini MG, Morris HR, Rizzu P, Heutink P, Snowden JS, Rollinson S, Richardson A, Gerhard A, Bruni AC, Maletta R, Frangipane F, Cupidi C, Bernardi L, Anfossi M, Gallo M, Conidi ME, Smirne N, Rademakers R, Baker M, Dickson DW, Graff-Radford NR, Petersen RC, Knopman D, Josephs KA, Boeve BF, Parisi JE, Seeley WW, Miller BL, Karydas AM, Rosen H, van Swieten JC, Dopper EG, Seelaar H, Pijnenburg YA, Scheltens P, Logroscino G, Capozzo R, Novelli V, Puca AA, Franceschi M, Postiglione A, Milan G, Sorrentino P, Kristiansen M, Chiang HH, Graff C, Pasquier F, Rollin A, Deramecourt V, Lebert F, Kapogiannis D, Ferrucci L, Pickering-Brown S, Singleton AB, Hardy J, Momeni P.

Lancet Neurol. 2014 Jul;13(7):686-99. doi: 10.1016/S1474-4422(14)70065-1.

9.

Identification of three novel LRRK2 mutations associated with Parkinson's disease in a Calabrian population.

Anfossi M, Colao R, Gallo M, Bernardi L, Conidi ME, Frangipane F, Vasso F, Puccio G, Clodomiro A, Mirabelli M, Curcio SA, Torchia G, Smirne N, Di Lorenzo R, Maletta R, Bruni AC.

J Alzheimers Dis. 2014;38(2):351-7. doi: 10.3233/JAD-130689.

PMID:
23963289
10.

Role of TOMM40 rs10524523 polymorphism in onset of alzheimer's disease caused by the PSEN1 M146L mutation.

Bernardi L, Gallo M, Anfossi M, Conidi ME, Colao R, Puccio G, Curcio SA, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Smirne N, Di Lorenzo R, Maletta R, Bruni AC.

J Alzheimers Dis. 2013;37(2):285-9. doi: 10.3233/JAD-130119.

PMID:
23792692
11.

Somatic comorbidities and Alzheimer's disease treatment.

Clodomiro A, Gareri P, Puccio G, Frangipane F, Lacava R, Castagna A, Manfredi VG, Colao R, Bruni AC.

Neurol Sci. 2013 Sep;34(9):1581-9. doi: 10.1007/s10072-013-1290-3. Epub 2013 Feb 1.

12.

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.

Neurobiol Aging. 2012 Dec;33(12):2948.e1-2948.e10. doi: 10.1016/j.neurobiolaging.2012.06.017. Epub 2012 Jul 20.

13.

A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features.

Gallo M, Marcello N, Curcio SA, Colao R, Geracitano S, Bernardi L, Anfossi M, Puccio G, Frangipane F, Clodomiro A, Mirabelli M, Vasso F, Smirne N, Muraca G, Di Lorenzo R, Maletta R, Ghidoni E, Bugiani O, Tagliavini F, Giaccone G, Bruni AC.

J Alzheimers Dis. 2011;25(3):425-31. doi: 10.3233/JAD-2011-110185.

PMID:
21422519
14.

MAPT V363I variation in a sporadic case of frontotemporal dementia: variable penetrant mutation or rare polymorphism?

Anfossi M, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.

Alzheimer Dis Assoc Disord. 2011 Jan-Mar;25(1):96-9. doi: 10.1097/WAD.0b013e3181eff860.

PMID:
21343707
15.

PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.

Bernardi L, Anfossi M, Gallo M, Geracitano S, Cola R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Clodomiro A, Di Lorenzo R, Smirne N, Maletta R, Iapaolo D, Bruni AC.

J Alzheimers Dis. 2011;24(3):415-9. doi: 10.3233/JAD-2011-101890.

PMID:
21297264
16.

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.

Neurobiol Aging. 2011 Apr;32(4):757.e1-757.e11. doi: 10.1016/j.neurobiolaging.2010.12.013. Epub 2011 Feb 3.

PMID:
21295377
17.

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.

Neurology. 2010 Mar 9;74(10):798-806. doi: 10.1212/WNL.0b013e3181d52785. Epub 2010 Feb 17.

18.

Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia.

Gallo M, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.

Neurol Sci. 2010 Feb;31(1):65-70. doi: 10.1007/s10072-009-0132-9. Epub 2009 Sep 19.

PMID:
19768372
19.

AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.

Bernardi L, Geracitano S, Colao R, Puccio G, Gallo M, Anfossi M, Frangipane F, Curcio SA, Mirabelli M, Tomaino C, Vasso F, Smirne N, Maletta R, Bruni AC.

J Alzheimers Dis. 2009;17(2):383-9. doi: 10.3233/JAD-2009-1061.

PMID:
19363265
20.

Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Puccio G, Colao R, Frangipane F, Mirabelli M, Smirne N, Maletta RG, Bruni AC.

J Neurol. 2008 Apr;255(4):604-6. doi: 10.1007/s00415-008-0764-3. Epub 2008 Mar 25. No abstract available.

PMID:
18350357
21.

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.

Neurobiol Aging. 2009 Nov;30(11):1825-33. doi: 10.1016/j.neurobiolaging.2008.01.005. Epub 2008 Mar 7.

PMID:
18314228
22.

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.

Neurology. 2007 Jul 10;69(2):140-7.

PMID:
17620546
23.

Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease.

Tomaino C, Bernardi L, Anfossi M, Costanzo A, Ferrise F, Gallo M, Geracitano S, Maletta R, Curcio SA, Mirabelli M, Colao R, Frangipane F, Puccio G, Calignano C, Muraca MG, Paonessa A, Smirne N, Leotta A, Bruni AC.

J Neurol. 2007 Mar;254(3):391-3. Epub 2007 Mar 7. No abstract available.

PMID:
17345043

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