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Items: 1 to 50 of 53

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.

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.

4.

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
5.

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.

6.

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
7.

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.

8.

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
9.

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.

10.

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.

11.

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
12.

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.

13.

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.

14.

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.

15.

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.

16.

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
17.

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
18.

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.

19.

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.

20.

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
21.

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
22.

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
23.

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
24.

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
25.

Investigation of c9orf72 in 4 neurodegenerative disorders.

Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E.

Arch Neurol. 2012 Dec;69(12):1583-90. doi: 10.1001/archneurol.2012.2016.

26.

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.

27.

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.

28.

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
29.

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
30.

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
31.

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
32.

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.

33.

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
34.

Chromosome 9p21.3 genotype is associated with vascular dementia and Alzheimer's disease.

Emanuele E, Lista S, Ghidoni R, Binetti G, Cereda C, Benussi L, Maletta R, Bruni AC, Politi P.

Neurobiol Aging. 2011 Jul;32(7):1231-5. doi: 10.1016/j.neurobiolaging.2009.07.003. Epub 2009 Aug 6.

PMID:
19664850
35.

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
36.

No evidence of association between frontotemporal dementia and major European mtDNA haplogroups.

Rose G, Longo T, Maletta R, Passarino G, Bruni AC, De Benedictis G.

Eur J Neurol. 2008 Sep;15(9):1006-8. doi: 10.1111/j.1468-1331.2008.02222.x. Epub 2008 Jul 10.

PMID:
18637035
37.

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
38.

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
39.

The mitochondrial DNA control region shows genetically correlated levels of heteroplasmy in leukocytes of centenarians and their offspring.

Rose G, Passarino G, Scornaienchi V, Romeo G, Dato S, Bellizzi D, Mari V, Feraco E, Maletta R, Bruni A, Franceschi C, De Benedictis G.

BMC Genomics. 2007 Aug 29;8:293.

40.

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
41.

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
42.

Circulating levels of soluble receptor for advanced glycation end products in Alzheimer disease and vascular dementia.

Emanuele E, D'Angelo A, Tomaino C, Binetti G, Ghidoni R, Politi P, Bernardi L, Maletta R, Bruni AC, Geroldi D.

Arch Neurol. 2005 Nov;62(11):1734-6.

PMID:
16286548
43.

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.

Neurobiol Aging. 2006 May;27(5):702-9.

PMID:
15904995
44.

A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.

Rossi G, Giaccone G, Maletta R, Morbin M, Capobianco R, Mangieri M, Giovagnoli AR, Bizzi A, Tomaino C, Perri M, Di Natale M, Tagliavini F, Bugiani O, Bruni AC.

Neurology. 2004 Sep 14;63(5):910-2.

PMID:
15365148
45.

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.

Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, Casari G, D'Adamo P, Maletta R, Curcio SA, De Michele G, Filla A, El Hachimi KH, Duyckaerts C.

Arch Neurol. 2004 Aug;61(8):1314-20.

PMID:
15313853
46.

Relation of apolipoprotein(a) size to alzheimer's disease and vascular dementia.

Emanuele E, Peros E, Tomaino C, Feudatari E, Bernardi L, Binetti G, Maletta R, Micieli G, Bruni AC, Geroldi D.

Dement Geriatr Cogn Disord. 2004;18(2):189-96. Epub 2004 Jun 21.

PMID:
15211075
47.

Apolipoprotein(a) null phenotype is related to a delayed age at onset of Alzheimer's disease.

Emanuele E, Peros E, Tomaino C, Feudatari E, Bernardi L, Binetti G, Maletta R, D'Angelo A, Montagna L, Bruni AC, Geroldi D.

Neurosci Lett. 2004 Feb 26;357(1):45-8.

PMID:
15036610
48.

Association between small apolipoprotein(a) isoforms and frontotemporal dementia in humans.

Emanuele E, Peros E, Tomaino C, Feudatari E, Bernardi L, Binetti G, Maletta R, Micieli G, Bruni AC, Geroldi D.

Neurosci Lett. 2003 Dec 26;353(3):201-4.

PMID:
14665416
49.

Nicastrin gene in familial and sporadic Alzheimer's disease.

Confaloni A, Terreni L, Piscopo P, Crestini A, Campeggi LM, Frigerio CS, Blotta I, Perri M, Di Natale M, Maletta R, Marcon G, Franceschi M, Bruni AC, Forloni G, Cantafora A.

Neurosci Lett. 2003 Dec 15;353(1):61-5.

PMID:
14642438
50.

Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.

Di Natale M, Perri M, Kawarai T, Maletta R, Tomaino C, Sato C, Nacmias B, Shibata N, Sorbi S, St George-Hyslop PH, Bruni AC, Rogaeva E.

Neurosci Lett. 2003 Jun 12;343(3):210-2.

PMID:
12770698

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