Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Livia Bernardi"'
Autor:
Francesco Bruno, Maria Elena Conidi, Gianfranco Puccio, Francesca Frangipane, Valentina Laganà, Livia Bernardi, Nicoletta Smirne, Maria Mirabelli, Rosanna Colao, Sabrina Curcio, Raffaele Di Lorenzo, Raffaele Maletta, Amalia Cecilia Bruni
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Inclusion body myopathy (IBM) with Paget’s disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, VCP mutations have also been documente
Externí odkaz:
https://doaj.org/article/4c8c51cfb59943f4a1c156cada635728
Autor:
Paolo Abondio, Stefania Sarno, Cristina Giuliani, Valentina Laganà, Raffaele Maletta, Livia Bernardi, Francesco Bruno, Rosanna Colao, Gianfranco Puccio, Francesca Frangipane, Barbara Borroni, Christine Van Broeckhoven, Donata Luiselli, Amalia Bruni
Publikováno v:
Biomedicines, Vol 10, Iss 1, p 20 (2021)
Mutation A713T in the amyloid precursor protein (APP) has been linked to cases of Alzheimer’s disease (AD), cerebral amyloid angiopathy (CAA) and cerebrovascular disease. Despite its rarity, it has been observed in several families from the same ge
Externí odkaz:
https://doaj.org/article/bbb9792d10c74958b6c48643964b8de0
Autor:
Flavia Amarante Cardoso, Eduardo Machado Rossi Monteiro, Livia Bernardi Lopes, Marianna Novaes da Costa Avila, Bernardo Oliveira Scarioli
Publikováno v:
International Archives of Otorhinolaryngology, Vol 21, Iss 03, Pp 308-312 (2017)
Abstract Introduction Neuroendocrine adenomas of the middle ear (NAME) are uncommon causes of middle ear masses. Mostly limited to case reports and small series, the literature is poor in providing an overall assessment of these tumors. Objective
Externí odkaz:
https://doaj.org/article/52bf5e61126e4fcab504f4900751f1a1
Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review
Autor:
Livia Bernardi, Amalia C. Bruni
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 14, p 3606 (2019)
Inherited mutations in the Prion protein (PrP), encoded by the PRNP gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt−Jacob disease (CJD), Gerstmann−Sträussler−Scheinker syndrome (GSS), and Fat
Externí odkaz:
https://doaj.org/article/bc899cef26bc41bd8f9a385f4f1f5906
Autor:
Paolo Abondio, Stefania Sarno, Cristina Giuliani, Valentina Laganà, Raffaele Maletta, Livia Bernardi, Francesco Bruno, Rosanna Colao, Gianfranco Puccio, Francesca Frangipane, Barbara Borroni, Christine Van Broeckhoven, Donata Luiselli, Amalia Bruni
Publikováno v:
Biomedicines; Volume 10; Issue 1; Pages: 20
Biomedicines
Biomedicines, Vol 10, Iss 20, p 20 (2022)
Biomedicines
Biomedicines, Vol 10, Iss 20, p 20 (2022)
Mutation A713T in the amyloid precursor protein (APP) has been linked to cases of Alzheimer’s disease (AD), cerebral amyloid angiopathy (CAA) and cerebrovascular disease. Despite its rarity, it has been observed in several families from the same ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0052845402c7c440623581dbf070f660
https://hdl.handle.net/11379/576279
https://hdl.handle.net/11379/576279
Publikováno v:
Cytopathology. 31:329-332
Autor:
Lisa Tuppo, Maria Livia Bernardi, Adriano Mari, Teresa Ricciardi, Maurizio Tamburrini, Maria Antonietta Ciardiello, Claudia Alessandri, Ivana Giangrieco, Danila Zennaro, Rosetta Ferrara
Publikováno v:
Clinical and Translational Allergy, Vol 10, Iss 1, Pp 1-18 (2020)
Clinical and Translational Allergy
Clinical and translational allergy 10 (2020). doi:10.1186/s13601-020-00329-8
info:cnr-pdr/source/autori:Alessandri C.; Ferrara R.; Bernardi M.L.; Zennaro D.; Tuppo L.; Giangrieco I.; Ricciardi T.; Tamburrini M.; Ciardiello M.A.; Mari A./titolo:Molecular approach to a patient's tailored diagnosis of the oral allergy syndrome/doi:10.1186%2Fs13601-020-00329-8/rivista:Clinical and translational allergy/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:10
Clinical and Translational Allergy
Clinical and translational allergy 10 (2020). doi:10.1186/s13601-020-00329-8
info:cnr-pdr/source/autori:Alessandri C.; Ferrara R.; Bernardi M.L.; Zennaro D.; Tuppo L.; Giangrieco I.; Ricciardi T.; Tamburrini M.; Ciardiello M.A.; Mari A./titolo:Molecular approach to a patient's tailored diagnosis of the oral allergy syndrome/doi:10.1186%2Fs13601-020-00329-8/rivista:Clinical and translational allergy/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:10
Oral allergy syndrome (OAS) is one of the most common IgE-mediated allergic reactions. It is characterized by a number of symptoms induced by the exposure of the oral and pharyngeal mucosa to allergenic proteins belonging to class 1 or to class 2 foo
Autor:
Rosanna Colao, Sabrina A.M. Curcio, Nicoletta Smirne, Livia Bernardi, Francesco Bruno, Raffaele Maletta, Raffaele Di Lorenzo, Francesca Frangipane, Valentina Laganà, Maria Elena Conidi, Amalia C. Bruni, Gianfranco Puccio, Maria Mirabelli
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Inclusion body myopathy (IBM) with Paget’s disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, VCP mutations have also been documente
Autor:
Maurizio Tamburrini, Claudi Rafaiani, Michela Ciancamerla, Ivana Giangrieco, Claudia Alessandri, Maria Livia Bernardi, Maria Antonietta Ciardiello, Rosetta Ferrara, Lisa Tuppo, Adriano Mari, Danila Zennaro, Chiara Rafaiani
Publikováno v:
Allergy. 76:2587-2589
Autor:
Barbier, Mathieu, Camuzat, Agnès, Hachimi, Khalid El, Guegan, Justine, Rinaldi, Daisy, Lattante, Serena, Houot, Marion, Sánchez-Valle, Raquel, Sabatelli, Mario, Antonell, Anna, Molina-Porcel, Laura, Clot, Fabienne, Couratier, Philippe, van der Ende, Emma, van der Zee, Julie, Manzoni, Claudia, Camu, William, Cazeneuve, Cécile, Sellal, François, Didic, Mira, Golfier, Véronique, Pasquier, Florence, Duyckaerts, Charles, Rossi, Giacomina, Bruni, Amalia C, Alvarez, Victoria, Gómez-Tortosa, Estrella, de Mendonça, Alexandre, Graff, Caroline, Masellis, Mario, Nacmias, Benedetta, Oumoussa, Badreddine Mohand, Jornea, Ludmila, Forlani, Sylvie, Van Deerlin, Viviana, Rohrer, Jonathan D, Gelpi, Ellen, Rademakers, Rosa, Van Swieten, John, Le Guern, Eric, Van Broeckhoven, Christine, Ferrari, Raffaele, Génin, Emmanuelle, Brice, Alexis, Ber, Le, Isabelle Alexis Brice, Sophie, Auriacombe, Serge, Belliard, Anne, Bertrand, Anne, Bissery, Fre ́ de, ́ ric Blanc, Marie-Paule, Boncoeur, Ste, ́ phanie Bombois, Claire Boutoleau-Bretonnie` re, Agne`, s Camuzat, Mathieu, Ceccaldi, Marie, Chupin, Philippe, Couratier, Olivier, Colliot, Vincent, Deramecourt, Mira, Didic, Bruno, Dubois, Charles, Duyckaerts, Fre ́ de, ́ rique Etcharry-Bouyx, Aure, ́ lie Guignebert-Funkiewiez, Maı ̈te, ́ Formaglio, ́ ronique Golfier, Ve, Marie-Odile, Habert, Didier, Hannequin, Lucette, Lacomblez, Julien, Lagarde, ́ raldine Lautrette, Ge, Isabelle Le Ber, Benjamin Le Toullec, Richard, Levy, Marie-Anne, Mackowiak, Bernard-Franc ̧ois Michel, Florence, Pasquier, Thibaud, Lebouvier, Carole Roue, ́ -Jagot, Christel Thauvin- Robinet, Catherine, Thomas-Anterion, Je ́ re, ́ mie Pariente, Franc ̧ois Salachas, Sabrina, Sayah, Franc ̧ois Sellal, Assi-Herve, ́ Oya, Daisy, Rinaldi, Adeline, Rollin-Sillaire, Martine, Vercelletto, David, Wallon, Armelle, Rametti-Lacroux, Raffaele, Ferrari, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Adaikalavan, Ramasamy, Kwok, John B. J., Carol Dobson- Stone, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Olivier, Piguet, Lauren, Bartley, Elizabeth, Thompson, Isabel Herna, ́ ndez, Agustı ́n Ruiz, Merce`, Boada, Barbara, Borroni, Alessandro, Padovani, Carlos, Cruchaga, Cairns, Nigel J., Luisa, Benussi, Giuliano, Binetti, Roberta, Ghidoni, Gianluigi, Forloni, Diego, Albani, Daniela, Galimberti, Chiara, Fenoglio, Maria, Serpente, Elio, Scarpini, ́ n, Jordi Clarimo, Alberto Lleo, ́, Rafael, Blesa, Maria Landqvist Waldo, ̈, Karin, Nilsson, Christer, Nilsson, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, David M. A., Jordan, Grafman, Morris, Christopher M., Johannes, Attems, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Pietro, Pietrini, Edward, Uey, Wassermann, Eric M., Atik, Baborie, Evelyn, Jaros, Tierney, Michael C., Pau, Pastor, Cristina, Razquin, Sara, Ortega-Cubero, Elena, Alonso, Robert, Perneczky, Janine, Diehl-Schmid, Panagiotis, Alexopoulos, Alexander, Kurz, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Ekaterina, Rogaeva, Peter St George-Hyslop, Giacomina, Rossi, Fabrizio, Tagliavini, Giorgio, Giaccone, Rowe, James B., Schlachetzki, Johannes C. M., James, Uphill, John, Collinge, Simon, Mead, Adrian, Danek, Van Deerlin, Vivianna M., Murray, Grossman, Trojanowski, John Q., Julie van der Zee, Christine Van Broeckhoven, Cappa, Stefano F., Isabelle, Leber, Alexis, Brice, Benedetta, Nacmias, Sandro, Sorbi, Silvia, Bagnoli, Irene, Piaceri, Nielsen, Jørgen E., Hjermind, Lena E., Matthias, Riemenschneider, Manuel, Mayhaus, Bernd, Ibach, Gilles, Gasparoni, Sabrina, Pichler, Wei, Gu, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Maria Grazia Spillantini, Morris, Huw R., Patrizia, Rizzu, Peter, Heutink, Snowden, Julie S., Sara, Rollinson, Anna, Richardson, Alexander, Gerhard, Bruni, Amalia C., Raffaele, Maletta, Francesca, Frangipane, Chiara, Cupidi, Livia, Bernardi, Maria, Anfossi, Maura, Gallo, Maria Elena Conidi, Nicoletta, Smirne, Rosa, Rademakers, Matt, Baker, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., David, Knopman, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Howard, Rosen, van Swieten, John C., Dopper, Elise G. P., Harro, Seelaar, Pijnenburg, Yolande A. L., Philip, Scheltens, Giancarlo, Logroscino, Rosa, Capozzo, Valeria, Novelli, Puca, Annibale A., Massimo, Franceschi, Alfredo, Postiglione, Graziella, Milan, Paolo, Sorrentino, Mark, Kristiansen, Huei-Hsin, Chiang, Caroline, Graff, Adeline, Rollin, Dimitrios, Kapogiannis, Luigi, Ferrucci, Stuart, Pickering-Brown, Singleton, Andrew B., John, Hardy, Parastoo, Momeni.
Publikováno v:
Brain, 144(9), 2798-2811. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (9), pp.2798-2811. ⟨10.1093/brain/awab171⟩
The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, ' SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration ', Brain, vol. 144, no. 9, pp. 2798-2811 . https://doi.org/10.1093/brain/awab171
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (9), pp.2798-2811. ⟨10.1093/brain/awab171⟩
The French clinical and genetic Research network on FTLD/FTLD-ALS and PREVDEMALS, The International Frontotemporal Dementia Genomics Consortium, The European Early Onset Dementia (EU-EOD) Consortium, Brainbank Neuro-CEB Neuropathology Network & Neurological Tissue Bank of the Biobank Hospital Clinic-IDIBAPS 2021, ' SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration ', Brain, vol. 144, no. 9, pp. 2798-2811 . https://doi.org/10.1093/brain/awab171
Brain
The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark of C9orf72 disease. In this study, we aimed to i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4744d719a32eac2edd4923af735fe737
https://pure.eur.nl/en/publications/21c24665-a8af-4872-8e79-a75f35655fc1
https://pure.eur.nl/en/publications/21c24665-a8af-4872-8e79-a75f35655fc1