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PSEN1 and PRNP Gene Mutations Co-occurrence Makes Onset Very Early in a Family with FTD Phenotype.
Published in:
Journal of Alzheimer's Disease, 2011, v. 24, n. 3, p. 415, doi. 10.3233/JAD-2011-101890
By:
- Bernardi, Livia;
- Anfossi, Maria;
- Gallo, Maura;
- Geracitano, Silvana;
- Colao, Rosanna;
- Puccio, Gianfranco;
- Curcio, Sabrina A. M.;
- Frangipane, Francesca;
- Mirabelli, Maria;
- Clodomiro, Alessandra;
- Di Lorenzo, Raffaele;
- Smirne, Nicoletta;
- Maletta, Raffaele;
- Iapaolo, David;
- Bruni, Amalia C.
Publication type:
Article
AβPP A713T Mutation in Late Onset Alzheimer's Disease with Cerebrovascular Lesions.
Published in:
Journal of Alzheimer's Disease, 2009, v. 17, n. 2, p. 383, doi. 10.3233/JAD-2009-1061
By:
- Bernardi, Livia;
- Geracitano, Silvana;
- Colao, Rosanna;
- Puccio, Gianfranco;
- Gallo, Maura;
- Anfossi, Maria;
- Frangipane, Francesca;
- Curcio, Sabrina A. M.;
- Mirabelli, Maria;
- Tomaino, Carmine;
- Vasso, Franca;
- Smirne, Nicoletta;
- Maletta, Raffaele;
- Bruni, Amalia C.
Publication type:
Article
Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity.
Published in:
1998
By:
- Rogaeva, Ekaterina;
- Premkumar, Smita;
- Song, Youqiang;
- Sorbi, Sandro;
- Brindle, Nicholas;
- Paterson, Andrew;
- Duara, Ranjan;
- Levesque, Georges;
- Yu, Gang;
- Nishimura, Masaki;
- Ikeda, Masaki;
- O'Toole, Colleen;
- Kawarai, Toshitaka;
- Jorge, Ricardo;
- Vilarino, Daniel;
- Bruni, Amalia C.;
- Farrer, Lindsay A.;
- St. George-Hyslop, Peter H.;
- Rogaeva, E;
- Premkumar, S
Publication type:
journal article
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Published in:
2015
By:
- Ming Zhang;
- Zhengrui Xi;
- Zinman, Lorne;
- Bruni, Amalia C.;
- Maletta, Raffaele G.;
- Curcio, Sabrina A. M.;
- Rainero, Innocenzo;
- Rubino, Elisa;
- Pinessi, Lorenzo;
- Nacmias, Benedetta;
- Sorbi, Sandro;
- Galimberti, Daniela;
- Lang, Anthony E.;
- Fox, Susan;
- Surace, Ezequiel I.;
- Ghani, Mahdi;
- Guo, Jing;
- Sato, Christine;
- Moreno, Danielle;
- Yan Liang
Publication type:
journal article
The Nerve Growth Factor Receptor (NGFR/p75 NTR): A Major Player in Alzheimer's Disease.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3200, doi. 10.3390/ijms24043200
By:
- Bruno, Francesco;
- Abondio, Paolo;
- Montesanto, Alberto;
- Luiselli, Donata;
- Bruni, Amalia C.;
- Maletta, Raffaele
Publication type:
Article
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 14, p. 3606, doi. 10.3390/ijms20143606
By:
- Bernardi, Livia;
- Bruni, Amalia C.
Publication type:
Article
Epidemiology of Frontotemporal dementia in southern Italy
Published in:
2009
By:
- Bruni, Amalia C.;
- Frangipane, Francesca;
- Colao, Rosanna;
- Puccio, Gianfranco;
- Curcio, Sabrina A.M.;
- Mirabelli, Maria;
- Maletta, Raffaele;
- Anfossi, Maria;
- Bernardi, Livia;
- Gallo, Maura;
- Geracitano, Silvana;
- Tomaino, Carmine;
- Muraca, Maria G.;
- Clodomiro, Alessandra;
- Di Lorenzo, Raffaele;
- Comito, Francesco;
- Valenti, Vincenzo;
- Marzano, Sandra;
- Smirne, Nicoletta
Publication type:
Abstract
P3-193: Genotype-phenotype relationship is lacking in families with PS1-Met146Leu founder mutation
Published in:
2006
By:
- Bruni, Amalia C.;
- Terni, Beatrice;
- Bernardi, Livia;
- Tomaino, Carmine;
- Maletta, Raffaele;
- Smirne, Nicoletta;
- Calignano, Cinzia;
- Paonessa, Annamaria;
- Leotta, Attilio;
- Santo, Lio;
- Puccio, Gianfranco;
- Colao, Rosanna;
- Frangipane, Francesca;
- Curcio, Sabrina A.M.;
- Mirabelli, Maria;
- Hachimi, Hamid El.;
- Foncin, Jean F.;
- Grazia Spillantini, Maria
Publication type:
Abstract
O2-02-06: Results of fine mapping of a late-onset Alzheimer disease locus on chromosome 12: Linkage and association studies
Published in:
2006
By:
- Rogaeva, Ekaterina;
- Lee, Joseph;
- Meng, Yan;
- Wakutani, Yosuke;
- Erlich, Porat;
- Cheng, Rong;
- Lee, Hye-Seung;
- Sato, Christine;
- Salehi-Rad, Shabnam;
- Liang, Yan;
- Sorbi, Sandro;
- Bruni, Amalia C.;
- Duara, Ranjan;
- Farrer, Lindsay A.;
- Mayeux, Richard;
- St George-Hyslop, Peter
Publication type:
Abstract
P3-193: Genotype-phenotype relationship is lacking in families with PS1-Met146Leu founder mutation
Published in:
2006
By:
- Bruni, Amalia C.;
- Terni, Beatrice;
- Bernardi, Livia;
- Tomaino, Carmine;
- Maletta, Raffaele;
- Smirne, Nicoletta;
- Calignano, Cinzia;
- Paonessa, Annamaria;
- Leotta, Attilio;
- Santo, Lio;
- Puccio, Gianfranco;
- Colao, Rosanna;
- Frangipane, Francesca;
- Curcio, Sabrina A.M.;
- Mirabelli, Maria;
- Hachimi, Hamid El.;
- Foncin, Jean F.;
- Grazia Spillantini, Maria
Publication type:
Abstract
O2-02-06: Results of fine mapping of a late-onset Alzheimer disease locus on chromosome 12: Linkage and association studies
Published in:
2006
By:
- Rogaeva, Ekaterina;
- Lee, Joseph;
- Meng, Yan;
- Wakutani, Yosuke;
- Erlich, Porat;
- Cheng, Rong;
- Lee, Hye-Seung;
- Sato, Christine;
- Salehi-Rad, Shabnam;
- Liang, Yan;
- Sorbi, Sandro;
- Bruni, Amalia C.;
- Duara, Ranjan;
- Farrer, Lindsay A.;
- Mayeux, Richard;
- St George-Hyslop, Peter
Publication type:
Abstract
Clinical manifestations of highly prevalent corticosteroid-binding globulin mutations in a village in southern Italy.
Published in:
2011
By:
- Cizza, Giovanni;
- Bernardi, Livia;
- Smirne, Nicoletta;
- Maletta, Raffaele;
- Tomaino, Carmine;
- Costanzo, Angela;
- Gallo, Maura;
- Lewis, John G;
- Geracitano, Silvana;
- Grasso, Maria Beatrice;
- Potenza, Giuseppe;
- Monteleone, Cosimo;
- Brancati, Giacomino;
- Ho, Jui T;
- Torpy, David J;
- Bruni, Amalia C
Publication type:
journal article
Somatic Point Mutations in mtDNA Control Region Are Influenced by Genetic Background and Associated with Healthy Aging: A GEHA Study.
Published in:
PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013395
By:
- Rose, Giuseppina;
- Romeo, Giuseppe;
- Dato, Serena;
- Crocco, Paolina;
- Bruni, Amalia C.;
- Hervonen, Antti;
- Majamaa, Kari;
- Sevini, Federica;
- Franceschi, Claudio;
- Passarino, Giuseppe
Publication type:
Article
Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.
Published in:
Journal of Neurology, 2008, v. 255, n. 4, p. 604, doi. 10.1007/s00415-008-0764-3
By:
- Bernardi, Livia;
- Tomaino, Carmine;
- Anfossi, Maria;
- Gallo, Maura;
- Geracitano, Silvana;
- Puccio, Gianfranco;
- Colao, Rosanna;
- Frangipane, Francesca;
- Mirabelli, Maria;
- Smirne, Nicoletta;
- Maletta, Raffaele Giovanni;
- Bruni, Amalia C.
Publication type:
Article
Presenilin 2 Ser130Leu mutation in a case of late-onset “sporadic” Alzheimer’s disease.
Published in:
Journal of Neurology, 2007, v. 254, n. 3, p. 391, doi. 10.1007/s00415-006-0373-y
By:
- Tomaino, Carmine;
- Bernardi, Livia;
- Anfossi, Maria;
- Costanzo, Angela;
- Ferrise, Francesca;
- Gallo, Maura;
- Geracitano, Silvana;
- Maletta, Raffaele;
- Curcio, Sabrina A. M.;
- Mirabelli, Maria;
- Colao, Rosanna;
- Frangipane, Francesca;
- Puccio, Gianfranco;
- Calignano, Cinzia;
- Muraca, Maria Gabriella;
- Paonessa, Annamaria;
- Smirne, Nicoletta;
- Leotta, Attilio;
- Bruni, Amalia C.
Publication type:
Article
Relation of Apolipoprotein(a) Size to Alzheimer's Disease and Vascular Dementia.
Published in:
Dementia & Geriatric Cognitive Disorders, 2004, v. 18, n. 2, p. 189, doi. 10.1159/000079200
By:
- Emanuele, Enzo;
- Peros, Emmanouil;
- Tomaino, Carmine;
- Feudatari, Enrica;
- Bernardi, Livia;
- Binetti, Giuliano;
- Maletta, Raffaele;
- Micieli, Giuseppe;
- Bruni, Amalia C.;
- Geroldi, Diego
Publication type:
Article
Alzheimer's disease: a model from the quantitative study of a large kindred.
Published in:
1992
By:
- Bruni, Amalia C.;
- Montesi, Maria Paola;
- Salmon, Denise;
- Gei, Giorgio;
- Perre, Janine;
- El Hachimi, K. Hamid;
- Foncin, Jean-François;
- Bruni, A C;
- Montesi, M P;
- Salmon, D;
- Gei, G;
- Perre, J;
- el Hachimi, K H;
- Foncin, J F
Publication type:
journal article
Using the Theory of Planned Behavior and Past Behavior to Explain the Intention to Receive a Seasonal Influenza Vaccine among Family Caregivers of People with Dementia.
Published in:
International Journal of Translational Medicine, 2023, v. 3, n. 2, p. 246, doi. 10.3390/ijtm3020017
By:
- Bruno, Francesco;
- Abondio, Paolo;
- Laganà, Valentina;
- Colao, Rosanna;
- Curcio, Sabrina M.;
- Frangipane, Francesca;
- Puccio, Gianfranco;
- Di Lorenzo, Raffaele;
- Bruni, Amalia C.;
- Maletta, Raffaele
Publication type:
Article
Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 21, p. 5630, doi. 10.1093/hmg/ddu279
By:
- Xi, Zhengrui;
- Rainero, Innocenzo;
- Rubino, Elisa;
- Pinessi, Lorenzo;
- Bruni, Amalia C;
- Maletta, Raffaele G;
- Nacmias, Benedetta;
- Sorbi, Sandro;
- Galimberti, Daniela;
- Surace, Ezequiel I;
- Zheng, Yonglan;
- Moreno, Danielle;
- Sato, Christine;
- Liang, Yan;
- Zhou, Ye;
- Robertson, Janice;
- Zinman, Lorne;
- Tartaglia, Maria Carmela;
- St. George-Hyslop, Peter;
- Rogaeva, Ekaterina
Publication type:
Article
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 7, p. 1417, doi. 10.1093/hmg/dds558
By:
- Smith, Katherine R.;
- Dahl, Hans-Henrik M.;
- Canafoglia, Laura;
- Andermann, Eva;
- Damiano, John;
- Morbin, Michela;
- Bruni, Amalia C.;
- Giaccone, Giorgio;
- Cossette, Patrick;
- Saftig, Paul;
- Grötzinger, Joachim;
- Schwake, Michael;
- Andermann, Frederick;
- Staropoli, John F.;
- Sims, Katherine B.;
- Mole, Sara E.;
- Franceschetti, Silvana;
- Alexander, Noreen A.;
- Cooper, Jonathan D.;
- Chapman, Harold A.
Publication type:
Article
The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey.
Published in:
Frontiers in Aging Neuroscience, 2021, p. N.PAG, doi. 10.3389/fnagi.2020.625781
By:
- Rainero, Innocenzo;
- Bruni, Amalia C.;
- Marra, Camillo;
- Cagnin, Annachiara;
- Bonanni, Laura;
- Cupidi, Chiara;
- Laganà, Valentina;
- Rubino, Elisa;
- Vacca, Alessandro;
- Di Lorenzo, Raffaele;
- Provero, Paolo;
- Isella, Valeria;
- Vanacore, Nicola;
- Agosta, Federica;
- Appollonio, Ildebrando;
- Caffarra, Paolo;
- Bussè, Cinzia;
- Sambati, Renato;
- Quaranta, Davide;
- Guglielmi, Valeria
Publication type:
Article
Brain-derived neurotrophic factor modulates cholesterol homeostasis and Apolipoprotein E synthesis in human cell models of astrocytes and neurons.
Published in:
Journal of Cellular Physiology, 2018, v. 233, n. 9, p. 6925, doi. 10.1002/jcp.26480
By:
- Spagnuolo, Maria S.;
- Donizetti, Aldo;
- Iannotta, Lucia;
- Aliperti, Vincenza;
- Cupidi, Chiara;
- Bruni, Amalia C.;
- Cigliano, Luisa
Publication type:
Article
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Published in:
Biomedicines, 2022, v. 10, n. 9, p. 2288, doi. 10.3390/biomedicines10092288
By:
- Bruno, Francesco;
- Laganà, Valentina;
- Di Lorenzo, Raffaele;
- Bruni, Amalia C.;
- Maletta, Raffaele
Publication type:
Article
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
Published in:
Movement Disorders, 2006, v. 21, n. 6, p. 872, doi. 10.1002/mds.20827
By:
- Salvatore, Elena;
- Varrone, Andrea;
- Sansone, Valeria;
- Nolano, Maria;
- Bruni, Amalia C.;
- De Rosa, Anna;
- Santoro, Lucio;
- Pappatà, Sabina;
- Filla, Alessandro;
- De Michele, Giuseppe
Publication type:
Article
NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease.
Published in:
Aging Cell, 2016, v. 15, n. 4, p. 661, doi. 10.1111/acel.12473
By:
- Triaca, Viviana;
- Sposato, Valentina;
- Bolasco, Giulia;
- Ciotti, Maria Teresa;
- Pelicci, Piergiuseppe;
- Bruni, Amalia C.;
- Cupidi, Chiara;
- Maletta, Raffaele;
- Feligioni, Marco;
- Nisticò, Robert;
- Canu, Nadia;
- Calissano, Pietro
Publication type:
Article
Neurodegenerative clinical records analyzer: detection of recurrent patterns within clinical records towards the identification of typical signs of neurodegenerative disease history.
Published in:
JLIS.it: Italian Journal of Library, Archives & Information Science, 2023, v. 14, n. 2, p. 20, doi. 10.36253/jlis.it-522
By:
- Pasceri, Erika;
- Bouhandi, Mérième;
- Lanza, Claudia;
- Perri, Anna;
- Laganà, Valentina;
- Maletta, Raffaele;
- Di Lorenzo, Raffaele;
- Bruni, Amalia C.
Publication type:
Article
A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia.
Published in:
PLoS ONE, 2017, v. 12, n. 10, p. 1, doi. 10.1371/journal.pone.0185797
By:
- Palluzzi, Fernando;
- Ferrari, Raffaele;
- Graziano, Francesca;
- Novelli, Valeria;
- Rossi, Giacomina;
- Galimberti, Daniela;
- Rainero, Innocenzo;
- Benussi, Luisa;
- Nacmias, Benedetta;
- Bruni, Amalia C.;
- Cusi, Daniele;
- Salvi, Erika;
- Borroni, Barbara;
- Grassi, Mario
Publication type:
Article

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