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Items: 1 to 50 of 97

1.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA.

Nat Genet. 2019 Mar;51(3):414-430. doi: 10.1038/s41588-019-0358-2. Epub 2019 Feb 28.

PMID:
30820047
2.

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.

3.

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.

Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, McCorkindale MD, Manzoni C, Rademakers R, Graff-Radford NR, Dickson DW, Parisi JE, Boeve BF, Petersen RC, Miller BL, Seeley WW, van Swieten JC, van Rooij J, Pijnenburg Y, van der Zee J, Van Broeckhoven C, Le Ber I, Van Deerlin V, Suh E, Rohrer JD, Mead S, Graff C, Öijerstedt L, Pickering-Brown S, Rollinson S, Rossi G, Tagliavini F, Brooks WS, Dobson-Stone C, Halliday GM, Hodges JR, Piguet O, Binetti G, Benussi L, Ghidoni R, Nacmias B, Sorbi S, Bruni AC, Galimberti D, Scarpini E, Rainero I, Rubino E, Clarimon J, Lleó A, Ruiz A, Hernández I, Pastor P, Diez-Fairen M, Borroni B, Pasquier F, Deramecourt V, Lebouvier T, Perneczky R, Diehl-Schmid J, Grafman J, Huey ED, Mayeux R, Nalls MA, Hernandez D, Singleton A, Momeni P, Zeng Z, Hardy J, Robertson J, Zinman L, Rogaeva E; International FTD-Genomics Consortium (IFGC) .

Brain. 2018 Oct 1;141(10):2895-2907. doi: 10.1093/brain/awy238.

4.

Tau Mutations Serve as a Novel Risk Factor for Cancer.

Rossi G, Redaelli V, Contiero P, Fabiano S, Tagliabue G, Perego P, Benussi L, Bruni AC, Filippini G, Farinotti M, Giaccone G, Buiatiotis S, Manzoni C, Ferrari R, Tagliavini F.

Cancer Res. 2018 Jul 1;78(13):3731-3739. doi: 10.1158/0008-5472.CAN-17-3175. Epub 2018 May 24.

5.

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.

6.

Distribution of human fecal marker GB-124 bacteriophages in urban sewage and reclaimed water of São Paulo city, Brazil.

Prado T, Bruni AC, Barbosa MRF, Bonanno VMS, Garcia SC, Sato MIZ.

J Water Health. 2018 Apr;16(2):289-299. doi: 10.2166/wh.2017.011.

PMID:
29676764
7.

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
8.

Brain-derived neurotrophic factor modulates cholesterol homeostasis and Apolipoprotein E synthesis in human cell models of astrocytes and neurons.

Spagnuolo MS, Donizetti A, Iannotta L, Aliperti V, Cupidi C, Bruni AC, Cigliano L.

J Cell Physiol. 2018 Sep;233(9):6925-6943. doi: 10.1002/jcp.26480. Epub 2018 Mar 25.

PMID:
29323721
9.

Prevalence of Delirium in a Population of Elderly Outpatients with Dementia: A Retrospective Study.

Addesi D, Maio R, Smirne N, Laganà V, Altomari N, Puccio G, Colao R, Cupidi C, Perticone F, Bruni AC.

J Alzheimers Dis. 2018;61(1):251-257. doi: 10.3233/JAD-170339.

PMID:
29171993
10.

A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia.

Palluzzi F, Ferrari R, Graziano F, Novelli V, Rossi G, Galimberti D, Rainero I, Benussi L, Nacmias B, Bruni AC, Cusi D, Salvi E, Borroni B, Grassi M.

PLoS One. 2017 Oct 11;12(10):e0185797. doi: 10.1371/journal.pone.0185797. eCollection 2017.

11.

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, Sleegers K, Vronskaya M, Ruiz A, Graham RR, Olaso R, Hoffmann P, Grove ML, Vardarajan BN, Hiltunen M, Nöthen MM, White CC, Hamilton-Nelson KL, Epelbaum J, Maier W, Choi SH, Beecham GW, Dulary C, Herms S, Smith AV, Funk CC, Derbois C, Forstner AJ, Ahmad S, Li H, Bacq D, Harold D, Satizabal CL, Valladares O, Squassina A, Thomas R, Brody JA, Qu L, Sánchez-Juan P, Morgan T, Wolters FJ, Zhao Y, Garcia FS, Denning N, Fornage M, Malamon J, Naranjo MCD, Majounie E, Mosley TH, Dombroski B, Wallon D, Lupton MK, Dupuis J, Whitehead P, Fratiglioni L, Medway C, Jian X, Mukherjee S, Keller L, Brown K, Lin H, Cantwell LB, Panza F, McGuinness B, Moreno-Grau S, Burgess JD, Solfrizzi V, Proitsi P, Adams HH, Allen M, Seripa D, Pastor P, Cupples LA, Price ND, Hannequin D, Frank-García A, Levy D, Chakrabarty P, Caffarra P, Giegling I, Beiser AS, Giedraitis V, Hampel H, Garcia ME, Wang X, Lannfelt L, Mecocci P, Eiriksdottir G, Crane PK, Pasquier F, Boccardi V, Henández I, Barber RC, Scherer M, Tarraga L, Adams PM, Leber M, Chen Y, Albert MS, Riedel-Heller S, Emilsson V, Beekly D, Braae A, Schmidt R, Blacker D, Masullo C, Schmidt H, Doody RS, Spalletta G, Longstreth WT Jr, Fairchild TJ, Bossù P, Lopez OL, Frosch MP, Sacchinelli E, Ghetti B, Yang Q, Huebinger RM, Jessen F, Li S, Kamboh MI, Morris J, Sotolongo-Grau O, Katz MJ, Corcoran C, Dunstan M, Braddel A, Thomas C, Meggy A, Marshall R, Gerrish A, Chapman J, Aguilar M, Taylor S, Hill M, Fairén MD, Hodges A, Vellas B, Soininen H, Kloszewska I, Daniilidou M, Uphill J, Patel Y, Hughes JT, Lord J, Turton J, Hartmann AM, Cecchetti R, Fenoglio C, Serpente M, Arcaro M, Caltagirone C, Orfei MD, Ciaramella A, Pichler S, Mayhaus M, Gu W, Lleó A, Fortea J, Blesa R, Barber IS, Brookes K, Cupidi C, Maletta RG, Carrell D, Sorbi S, Moebus S, Urbano M, Pilotto A, Kornhuber J, Bosco P, Todd S, Craig D, Johnston J, Gill M, Lawlor B, Lynch A, Fox NC, Hardy J; ARUK Consortium, Albin RL, Apostolova LG, Arnold SE, Asthana S, Atwood CS, Baldwin CT, Barnes LL, Barral S, Beach TG, Becker JT, Bigio EH, Bird TD, Boeve BF, Bowen JD, Boxer A, Burke JR, Burns JM, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carlsson CM, Carney RM, Carrasquillo MM, Carroll SL, Diaz CC, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, Dick M, Duara R, Evans DA, Faber KM, Fallon KB, Fardo DW, Farlow MR, Ferris S, Foroud TM, Galasko DR, Gearing M, Geschwind DH, Gilbert JR, Graff-Radford NR, Green RC, Growdon JH, Hamilton RL, Harrell LE, Honig LS, Huentelman MJ, Hulette CM, Hyman BT, Jarvik GP, Abner E, Jin LW, Jun G, Karydas A, Kaye JA, Kim R, Kowall NW, Kramer JH, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lunetta KL, Lyketsos CG, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Morris JC, Murrell JR, Myers AJ, O'Bryant S, Olichney JM, Pankratz VS, Parisi JE, Paulson HL, Perry W, Peskind E, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rogaeva E, Rosen HJ, Rosenberg RN, Sager MA, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Garzia F, Golamaully F, Septier G, Engelborghs S, Vandenberghe R, De Deyn PP, Fernadez CM, Benito YA, Thonberg H, Forsell C, Lilius L, Kinhult-Stählbom A, Kilander L, Brundin R, Concari L, Helisalmi S, Koivisto AM, Haapasalo A, Dermecourt V, Fievet N, Hanon O, Dufouil C, Brice A, Ritchie K, Dubois B, Himali JJ, Keene CD, Tschanz J, Fitzpatrick AL, Kukull WA, Norton M, Aspelund T, Larson EB, Munger R, Rotter JI, Lipton RB, Bullido MJ, Hofman A, Montine TJ, Coto E, Boerwinkle E, Petersen RC, Alvarez V, Rivadeneira F, Reiman EM, Gallo M, O'Donnell CJ, Reisch JS, Bruni AC, Royall DR, Dichgans M, Sano M, Galimberti D, St George-Hyslop P, Scarpini E, Tsuang DW, Mancuso M, Bonuccelli U, Winslow AR, Daniele A, Wu CK; GERAD/PERADES, CHARGE, ADGC, EADI, Peters O, Nacmias B, Riemenschneider M, Heun R, Brayne C, Rubinsztein DC, Bras J, Guerreiro R, Al-Chalabi A, Shaw CE, Collinge J, Mann D, Tsolaki M, Clarimón J, Sussams R, Lovestone S, O'Donovan MC, Owen MJ, Behrens TW, Mead S, Goate AM, Uitterlinden AG, Holmes C, Cruchaga C, Ingelsson M, Bennett DA, Powell J, Golde TE, Graff C, De Jager PL, Morgan K, Ertekin-Taner N, Combarros O, Psaty BM, Passmore P, Younkin SG, Berr C, Gudnason V, Rujescu D, Dickson DW, Dartigues JF, DeStefano AL, Ortega-Cubero S, Hakonarson H, Campion D, Boada M, Kauwe JK, Farrer LA, Van Broeckhoven C, Ikram MA, Jones L, Haines JL, Tzourio C, Launer LJ, Escott-Price V, Mayeux R, Deleuze JF, Amin N, Holmans PA, Pericak-Vance MA, Amouyel P, van Duijn CM, Ramirez A, Wang LS, Lambert JC, Seshadri S, Williams J, Schellenberg GD.

Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.

12.

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
13.

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia.

Ferrari R, Grassi M, Graziano F, Palluzzi F, Archetti S, Bonomi E, Bruni AC, Maletta RG, Bernardi L, Cupidi C, Colao R, Rainero I, Rubino E, Pinessi L, Galimberti D, Scarpini E, Serpente M, Nacmias B, Piaceri I, Bagnoli S, Rossi G, Giaccone G, Tagliavini F, Benussi L, Binetti G, Ghidoni R, Singleton A, Hardy J, Momeni P, Padovani A, Borroni B.

J Alzheimers Dis. 2017;56(4):1271-1278. doi: 10.3233/JAD-160949.

14.

Short-Term Response is not Predictive of Long-Term Response to Acetylcholinesterase Inhibitors in Old Age Subjects with Alzheimer's Disease: A "Real World" Study.

Boccardi V, Baroni M, Smirne N, Clodomiro A, Ercolani S, Longo A, Ruggiero C, Bruni AC, Mecocci P.

J Alzheimers Dis. 2017;56(1):239-248. doi: 10.3233/JAD-160904.

PMID:
27911323
15.

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
16.

Angela R.: a familial Alzheimer's disease case in the days of Auguste D.

Borrello L, Cupidi C, Laganà V, Anfossi M, Conidi ME, Smirne N, Taverniti M, Guarasci R, Bruni AC.

J Neurol. 2016 Dec;263(12):2494-2498. Epub 2016 Oct 11.

PMID:
27730373
17.

The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design.

Bonanni L, Cagnin A, Agosta F, Babiloni C, Borroni B, Bozzali M, Bruni AC, Filippi M, Galimberti D, Monastero R, Muscio C, Parnetti L, Perani D, Serra L, Silani V, Tiraboschi P, Padovani A; DLB-SINdem study group.

Neurol Sci. 2017 Jan;38(1):83-91. doi: 10.1007/s10072-016-2713-8. Epub 2016 Sep 13.

PMID:
27624723
18.

Contribution of polymorphic variation of inositol hexakisphosphate kinase 3 (IP6K3) gene promoter to the susceptibility to late onset Alzheimer's disease.

Crocco P, Saiardi A, Wilson MS, Maletta R, Bruni AC, Passarino G, Rose G.

Biochim Biophys Acta. 2016 Sep;1862(9):1766-73. doi: 10.1016/j.bbadis.2016.06.014. Epub 2016 Jun 21.

19.

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease.

Triaca V, Sposato V, Bolasco G, Ciotti MT, Pelicci P, Bruni AC, Cupidi C, Maletta R, Feligioni M, Nisticò R, Canu N, Calissano P.

Aging Cell. 2016 Aug;15(4):661-72. doi: 10.1111/acel.12473. Epub 2016 Apr 13.

20.

The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.

Montesanto A, Crocco P, Anfossi M, Smirne N, Puccio G, Colao R, Maletta R, Passarino G, Bruni AC, Rose G.

J Alzheimers Dis. 2016;51(4):1265-74. doi: 10.3233/JAD-150993.

PMID:
26923023
21.

Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol.

Bocchetta M, Mega A, Bernardi L, Di Maria E, Benussi L, Binetti G, Borroni B, Colao R, Di Fede G, Fostinelli S, Galimberti D, Gennarelli M, Ghidoni R, Piaceri I, Pievani M, Porteri C, Redaelli V, Rossi G, Suardi S, Babiloni C, Scarpini E, Tagliavini F, Padovani A, Nacmias B, Sorbi S, Frisoni GB, Bruni AC; SINdem Collaborators.

J Alzheimers Dis. 2016;51(1):277-91. doi: 10.3233/JAD-150849.

PMID:
26901402
22.

The role of citicoline in cognitive impairment: pharmacological characteristics, possible advantages, and doubts for an old drug with new perspectives.

Gareri P, Castagna A, Cotroneo AM, Putignano S, De Sarro G, Bruni AC.

Clin Interv Aging. 2015 Sep 3;10:1421-9. doi: 10.2147/CIA.S87886. eCollection 2015. Review. Erratum in: Clin Interv Aging. 2015;10:1625.

23.

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.

Ferrari R, Grassi M, Salvi E, Borroni B, Palluzzi F, Pepe D, D'Avila F, Padovani A, Archetti S, Rainero I, Rubino E, Pinessi L, Benussi L, Binetti G, Ghidoni R, Galimberti D, Scarpini E, Serpente M, Rossi G, Giaccone G, Tagliavini F, Nacmias B, Piaceri I, Bagnoli S, Bruni AC, Maletta RG, Bernardi L, Postiglione A, Milan G, Franceschi M, Puca AA, Novelli V, Barlassina C, Glorioso N, Manunta P, Singleton A, Cusi D, Hardy J, Momeni P.

Neurobiol Aging. 2015 Oct;36(10):2904.e13-26. doi: 10.1016/j.neurobiolaging.2015.06.005. Epub 2015 Jun 12.

24.

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.

25.

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Zhang M, Xi Z, Zinman L, Bruni AC, Maletta RG, Curcio SA, Rainero I, Rubino E, Pinessi L, Nacmias B, Sorbi S, Galimberti D, Lang AE, Fox S, Surace EI, Ghani M, Guo J, Sato C, Moreno D, Liang Y, Keith J, Traynor BJ, St George-Hyslop P, Rogaeva E.

Brain. 2015 Sep;138(Pt 9):e380. doi: 10.1093/brain/awv082. Epub 2015 Mar 31. No abstract available.

26.

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.

Xi Z, Zhang M, Bruni AC, Maletta RG, Colao R, Fratta P, Polke JM, Sweeney MG, Mudanohwo E, Nacmias B, Sorbi S, Tartaglia MC, Rainero I, Rubino E, Pinessi L, Galimberti D, Surace EI, McGoldrick P, McKeever P, Moreno D, Sato C, Liang Y, Keith J, Zinman L, Robertson J, Rogaeva E.

Acta Neuropathol. 2015 May;129(5):715-27. doi: 10.1007/s00401-015-1401-8. Epub 2015 Feb 26.

27.

Influence of controlled encoding and retrieval facilitation on memory performance in patients with different profiles of mild cognitive impairment.

Perri R, Monaco M, Fadda L, Serra L, Marra C, Caltagirone C, Bruni AC, Curcio S, Bozzali M, Carlesimo GA.

J Neurol. 2015;262(4):938-48. doi: 10.1007/s00415-015-7662-2. Epub 2015 Feb 12.

PMID:
25670528
28.

Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in Italy.

Borroni B, Turrone R, Galimberti D, Nacmias B, Alberici A, Benussi A, Caffarra P, Caltagirone C, Cappa SF, Frisoni GB, Ghidoni R, Marra C, Padovani A, Rainero I, Scarpini E, Silani V, Sorbi S, Tagliavini F, Tremolizzo L, Bruni AC; FTD Group-SINDEM.

Neurol Sci. 2015 May;36(5):751-7. doi: 10.1007/s10072-014-2033-9. Epub 2014 Dec 21.

PMID:
25528460
29.

Haptoglobin interacts with apolipoprotein E and beta-amyloid and influences their crosstalk.

Spagnuolo MS, Maresca B, La Marca V, Carrizzo A, Veronesi C, Cupidi C, Piccoli T, Maletta RG, Bruni AC, Abrescia P, Cigliano L.

ACS Chem Neurosci. 2014 Sep 17;5(9):837-47. doi: 10.1021/cn500099f. Epub 2014 Aug 1.

PMID:
25058565
30.

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
31.

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.

32.

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, Robertson J, Zinman L, Tartaglia MC, St George-Hyslop P, Rogaeva E.

Hum Mol Genet. 2014 Nov 1;23(21):5630-7. doi: 10.1093/hmg/ddu279. Epub 2014 Jun 6.

33.

Genetics in degenerative dementia: current status and applicability.

Bruni AC, Conidi ME, Bernardi L.

Alzheimer Dis Assoc Disord. 2014 Jul-Sep;28(3):199-205. doi: 10.1097/WAD.0000000000000046. Review.

PMID:
24805970
34.

Association of the variant Cys139Arg at GRN gene to the clinical spectrum of frontotemporal lobar degeneration.

Piaceri I, Pradella S, Cupidi C, Nannucci S, Polito C, Bagnoli S, Tedde A, Smirne N, Anfossi M, Gallo M, Bernardi L, Colao R, Maletta R, Bruni AC, Sorbi S, Nacmias B.

J Alzheimers Dis. 2014;40(3):679-85. doi: 10.3233/JAD-132126.

PMID:
24503614
35.

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
36.

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
37.

Estimating the inheritance of frontotemporal lobar degeneration in the Italian population.

Borroni B, Grassi M, Bianchi M, Bruni AC, Maletta RG, Anfossi M, Pepe D, Cagnin A, Caffarra P, Cappa S, Clerici F, Daniele A, Frisoni GB, Galimberti D, Parnetti L, Perri R, Rainero I, Tremolizzo L, Turla M, Zanetti O, Padovani A.

J Alzheimers Dis. 2014;41(2):371-6. doi: 10.3233/JAD-130128.

PMID:
23719513
38.

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

Bianchi S, Dotti MT, Gallus GN, D'Eramo C, Di Donato I, Bernardi L, Maletta R, Puccio G, Bruni AC, Federico A.

Neurobiol Aging. 2013 Sep;34(9):2234.e9-12. doi: 10.1016/j.neurobiolaging.2013.03.005. Epub 2013 Apr 12.

PMID:
23587639
39.

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation.

Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana MT, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell'Osso B, Comi GP, Altamura AC, Mariani C, Scarpini E.

Biol Psychiatry. 2013 Sep 1;74(5):384-91. doi: 10.1016/j.biopsych.2013.01.031. Epub 2013 Mar 7.

40.

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.

41.

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

42.

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Rubino E, Rainero I, Chiò A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L; TODEM Study Group.

Neurology. 2012 Oct 9;79(15):1556-62. doi: 10.1212/WNL.0b013e31826e25df. Epub 2012 Sep 12.

43.

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.

44.

Position paper of the Italian Society for the study of Dementias (SINDEM) on the proposal of a new lexicon on Alzheimer disease.

Musicco M, Padovani A, Sorbi S, Scarpini E, Caffarra P, Cappa S, Clerici F, Tabaton M, Caltagirone C, Bonavita V, Bruni AC, Bruno G, Federico A, Ferrarese C, Marra C, Nacmias B, Parnetti L, Pettenati C, Sorrentino G, Tagliavini F, Mariani C.

Neurol Sci. 2012 Feb;33(1):201-8. doi: 10.1007/s10072-011-0825-8. Epub 2011 Nov 5.

PMID:
22057264
45.

Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy.

Cizza G, Bernardi L, Smirne N, Maletta R, Tomaino C, Costanzo A, Gallo M, Lewis JG, Geracitano S, Grasso MB, Potenza G, Monteleone C, Brancati G, Ho JT, Torpy DJ, Bruni AC.

J Clin Endocrinol Metab. 2011 Oct;96(10):E1684-93. doi: 10.1210/jc.2011-1321. Epub 2011 Jul 27.

46.

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
47.

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
48.

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
49.

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
50.

Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study.

Rose G, Romeo G, Dato S, Crocco P, Bruni AC, Hervonen A, Majamaa K, Sevini F, Franceschi C, Passarino G; GEnetics of Healthy Ageing Project Consortium.

PLoS One. 2010 Oct 14;5(10):e13395. doi: 10.1371/journal.pone.0013395.

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