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2. IDEAL study: A real‐world assessment of pattern of use and clinical outcomes with recombinant coagulation factor IX albumin fusion protein (rIX‐FP) in patients with haemophilia B in Italy

Author

Tagliaferri, Annarita, primary, Molinari, Angelo Claudio, additional, Peyvandi, Flora, additional, Coppola, Antonio, additional, Demartis, Francesco, additional, Biasoli, Chiara, additional, Borchiellini, Alessandra, additional, Cultrera, Dorina, additional, De Cristofaro, Raimondo, additional, Daniele, Filomena, additional, Giordano, Paola, additional, Marchesini, Emanuela, additional, Margaglione, Maurizio, additional, Marino, Renato, additional, Pollio, Berardino, additional, Radossi, Paolo, additional, Santoro, Cristina, additional, Santoro, Rita Carlotta, additional, Siragusa, Sergio, additional, Sottilotta, Gianluca, additional, Tosetto, Alberto, additional, Piscitelli, Lydia, additional, Villa, Maria Rosaria, additional, Zanon, Ezio, additional, Finardi, Adele, additional, Schiavetti, Irene, additional, Vaccari, Daniella, additional, and Castaman, Giancarlo, additional

Published
2022
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4. Contributors

Author

Aiba, Isamu, primary, Andrade, Pedro, additional, Angamo, Eskedar A., additional, Aronica, Eleonora, additional, Auvin, Stéphane, additional, Baines, Richard A., additional, Balosso, Silvia, additional, Barker-Haliski, Melissa, additional, Bartolomei, Fabrice, additional, Bastar, Jeffrey, additional, Battaglia, Giorgio, additional, Benke, Tim, additional, Berdichevsky, Yevgeny, additional, Bernard, Christophe, additional, Bertoglio, Daniele, additional, Bertram, Edward H., additional, Buchanan, Gordon, additional, Buckmaster, Paul S., additional, Calas, Guilhem, additional, Carlen, Peter L., additional, Carmant, Lionel, additional, Cepeda, Carlos, additional, Cho, Frances S., additional, Clemente, Alexandra, additional, Cloyd, James C., additional, Colciaghi, Francesca, additional, Coles, Lisa D., additional, Conti, Valerio, additional, Copmans, Daniëlle, additional, Coulter, Douglas A., additional, Dal Bo, Gregory, additional, Dang, Louis T., additional, de Curtis, Marco, additional, de Witte, Peter A.M., additional, Dedeurwaerdere, Stefanie, additional, Deleye, Steven, additional, Dengler, Nora, additional, Depaulis, Antoine, additional, Deransart, Colin, additional, Dorandeu, Frederic, additional, Dudek, F. Edward, additional, Dulla, Chris G., additional, Dzhala, Volodya, additional, Ekstrand, Jeffrey, additional, Estrada-Sánchez, Ana M., additional, Eubanks, James H., additional, Faingold, Carl, additional, Fares, Raafat, additional, Ferland, R.J., additional, Ferraro, T.N., additional, Finardi, Adele, additional, Friedman, Alon, additional, Gabriel, Siegrun, additional, Galanopoulou, Aristea S., additional, Giachello, Carlo N.G., additional, Glykys, Joseph, additional, Gnatkovsky, Vadym, additional, Goldman, Alica M., additional, Goodman, Jeffrey, additional, Gorter, Jan A., additional, Gröhn, Olli, additional, Guerrini, Renzo, additional, Guillemain, Isabelle, additional, Halasz, Peter, additional, Heinemann, Uwe, additional, Henshall, David C., additional, Holden, Stephanie, additional, Holmes, Gregory L., additional, Hovens, Chris, additional, Ivanov, Anton I., additional, Jansen, Laura A., additional, Jarre, Guillaume, additional, Jarvis, Paul R., additional, Jefferys, John G.R., additional, Jensen, Frances E., additional, Jeong, Anna, additional, Jin, Xiaoming, additional, Jin, Yishi, additional, Köhling, Rüdiger, additional, Kadam, Shilpa D., additional, Kaufer, Daniela, additional, Kelly, Kevin M., additional, Kelly, Mary E., additional, Klang, Andrea, additional, Klitgaard, Henrik, additional, Kneissl, Sibylle, additional, Kostopoulos, George K., additional, Kotloski, Robert J., additional, Kuker, Marie, additional, Kyyriäinen, Jenni, additional, Löscher, Wolfgang, additional, Lau, Lauren A., additional, Lehmann, Thomas-Nicolas, additional, Leppik, Ilo E., additional, Levine, Michael S., additional, Librizzi, Laura, additional, Lillis, Kyle, additional, Lin, Dean D., additional, Lin, Wei-Hsiang, additional, Mühlebner, Angelika, additional, Marchi, Nicola, additional, Mazarati, Andrey M., additional, Milikovsky, Dan Z., additional, Modolo, Julien, additional, Moshé, Solomon L., additional, N’Gouemo, Prosper, additional, Ndode-Ekane, Xavier Ekolle, additional, Nehlig, Astrid, additional, Newton, Jamila, additional, Nobili, Paola, additional, Noebels, Jeffrey L., additional, O’Brien, Terence J., additional, O’Leary, Heather, additional, Pakozdy, Akos, additional, Parent, Jack M., additional, Pasanen, Lotta, additional, Patel, Dipan C., additional, Patterson, Edward N., additional, Paz, Jeanne T., additional, Petrou, Steve, additional, Ping, Xingjie, additional, Pitkänen, Asla, additional, Potschka, Heidrun, additional, Raikov, Ivan, additional, Ravizza, Teresa, additional, Reddy, Doodipala S., additional, Richards, Kay L., additional, Roper, Steven N., additional, Salar, Seda, additional, Salinas, Felipe S., additional, Sanon, Nathalie T., additional, Shakarjian, Michael P., additional, Shaker, Tarek, additional, Shultz, Sandy, additional, Siekierska, Aleksandra, additional, Soltesz, Ivan, additional, Spampanato, Jay G., additional, Staley, Kevin J., additional, Stewart, Mark, additional, Sun, Hongyu, additional, Sutula, Thomas P., additional, Szabó, Charles Á., additional, Takayanagi-Kiya, Seika, additional, Tanila, Heikki, additional, Tannenbaum, Jerrold, additional, Tupal, Srinivasan, additional, Uva, Laura, additional, van Vliet, Erwin A., additional, Velíšek, Libor, additional, Velíšková, Jana, additional, Walker, Matthew C., additional, Wendling, Fabrice, additional, White, H. Steve, additional, Wilcox, Karen S., additional, Wong, Michael, additional, Wykes, Robert C., additional, Zayachkivsky, Andrew, additional, Zhang, Liang, additional, and Zheng, Ping, additional

Published
2017
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13. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Author

Di Bella Daniela, Lazzaro Federico, Brusco Alfredo, Plumari Massimo, Battaglia Giorgio, Pastore A, Finardi Adele, Cagnoli Claudia, Tempia Filippo, Frontali Marina, Veneziano Liana, Sacco Tiziana, Boda Enrica, Brussino Alessandro, Bonn Florian, Castellotti Barbara, Baratta Silvia, Mariotti Caterina, Gellera Cinzia, Fracasso Valentina, Magri Stefania, Langer Thomas, Plevani Paolo, Di Donato Stefano, Muzi-Falconi Marco, Taroni Franco, RI Tempia Filippo/A-5883-2012 Muzi-Falconi Marco/A-6035-2012 Di Donato Stefano/B-9717-2012, Di Bella, Daniela, Lazzaro, Federico, Brusco, Alfredo, Plumari, Massimo, Battaglia, Giorgio, Pastore, A, Finardi, Adele, Cagnoli, Claudia, Tempia, Filippo, Frontali, Marina, Veneziano, Liana, Sacco, Tiziana, Boda, Enrica, Brussino, Alessandro, Bonn, Florian, Castellotti, Barbara, Baratta, Silvia, Mariotti, Caterina, Gellera, Cinzia, Fracasso, Valentina, Magri, Stefania, Langer, Thoma, Plevani, Paolo, Di Donato, Stefano, Muzi-Falconi, Marco, Taroni, Franco, and RI Tempia Filippo/A-5883-2012 Muzi-Falconi Marco/A-6035-2012 Di Donato, Stefano/B-9717-2012

Subjects
Cerebellum, Ataxia, cerebellum, Purkinje cell, Cell Respiration, Molecular Sequence Data, Mutation, Missense, Saccharomyces cerevisiae, Mitochondrion, Biology, medicine.disease_cause, Electron Transport Complex IV, Metalloprotease, Purkinje Cells, SCA28, ATP-Dependent Proteases, Genetics, medicine, Humans, AFG3L2, Spinocerebellar Degenerations, Adenosine Triphosphatases, Spinocerebellar Ataxia, Mutation, Paraplegin, Base Sequence, Neurodegeneration, Genetic Complementation Test, ataxia, medicine.disease, Mitochondria, medicine.anatomical_structure, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, medicine.symptom
Abstract

Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome. We identified heterozygous missense mutations in five unrelated SCA families and found that AFG3L2 is highly and selectively expressed in human cerebellar Purkinje cells. m-AAA–deficient yeast cells expressing human mutated AFG3L2 homocomplex show respiratory deficiency, proteolytic impairment and deficiency of respiratory chain complex IV. Structure homology modeling indicates that the mutations may affect AFG3L2 substrate handling. This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration.

Published
2010
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16. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Author

Di Bella, Daniela, primary, Lazzaro, Federico, additional, Brusco, Alfredo, additional, Plumari, Massimo, additional, Battaglia, Giorgio, additional, Pastore, Annalisa, additional, Finardi, Adele, additional, Cagnoli, Claudia, additional, Tempia, Filippo, additional, Frontali, Marina, additional, Veneziano, Liana, additional, Sacco, Tiziana, additional, Boda, Enrica, additional, Brussino, Alessandro, additional, Bonn, Florian, additional, Castellotti, Barbara, additional, Baratta, Silvia, additional, Mariotti, Caterina, additional, Gellera, Cinzia, additional, Fracasso, Valentina, additional, Magri, Stefania, additional, Langer, Thomas, additional, Plevani, Paolo, additional, Di Donato, Stefano, additional, Muzi-Falconi, Marco, additional, and Taroni, Franco, additional

Published
2010
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17. Electroencephalographic Recordings of Focal Seizures in Patients Affected by Periventricular Nodular Heterotopia: Role of the Heterotopic Nodules in the Genesis of Epileptic Discharges

Author

Battaglia, Giorgio, primary, Franceschetti, Silvana, additional, Chiapparini, Luisa, additional, Freri, Elena, additional, Bassanini, Stefania, additional, Giavazzi, Alessio, additional, Finardi, Adele, additional, Taroni, Franco, additional, and Granata, Tiziana, additional

Published
2005
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18. Electroencephalographic Recordings of Focal Seizures in Patients Affected by Periventricular Nodular Heterotopia: Role of the Heterotopic Nodules in the Genesis of Epileptic Discharges

Author

Battaglia, Giorgio, primary, Franceschetti, Silvana, additional, Chiapparini, Luisa, additional, Freri, Elena, additional, Bassanini, Stefania, additional, Giavazzi, Alessio, additional, Finardi, Adele, additional, Taroni, Franco, additional, and Granata, Tiziana, additional

Published
2004
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19. Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron

Author

Locatelli, Denise, d'Errico, Paolo, Capra, Silvia, Finardi, Adele, Colciaghi, Francesca, Setola, Veronica, Terao, Mineko, Garattini, Enrico, and Battaglia, Giorgio

Subjects
Mouse Model, Tudor Domain, animal diseases, Growth Cones, Hud, nervous system diseases, Determining Gene-Product, Messenger-Rna, nervous system, Disease Protein Smn, axon growth, Localization, Defects, cytoskeletal abnormalities, Deletions, axon swellings, motor neuron, spinal muscular atrophy
Abstract

The axonal survival of motor neuron (a-SMN) protein is a truncated isoform of SMN1, the spinal muscular atrophy (SMA) disease gene. a-SMN is selectively localized in axons and endowed with remarkable axonogenic properties. At present, the role of a-SMN in SMA is unknown. As a first step to verify a link between a-SMN and SMA, we investigated by means of over-expression experiments in neuroblastoma-spinal cord hybrid cell line (NSC34) whether SMA pathogenic mutations located in the N-terminal part of the protein affected a-SMN function. We demonstrated here that either SMN1 missense mutations or small intragenic re-arrangements located in the Tudor domain consistently altered the a-SMN capability of inducing axonal elongation in vitro. Mutated human a-SMN proteins determined in almost all NSC34 motor neurons the growth of short axons with prominent morphologic abnormalities. Our data indicate that the Tudor domain is critical in dictating a-SMN function possibly because it is an association domain for proteins involved in axon growth. They also indicate that Tudor domain mutations are functionally relevant not only for FL-SMN but also for a-SMN, raising the possibility that also a-SMN loss of function may contribute to the pathogenic steps leading to SMA.

20. IDEAL study: A real‐world assessment of pattern of use and clinical outcomes with recombinant coagulation factor IX albumin fusion protein (rIX‐FP) in patients with haemophilia B in Italy

Author

Annarita Tagliaferri, Angelo Claudio Molinari, Flora Peyvandi, Antonio Coppola, Francesco Demartis, Chiara Biasoli, Alessandra Borchiellini, Dorina Cultrera, Raimondo De Cristofaro, Filomena Daniele, Paola Giordano, Emanuela Marchesini, Maurizio Margaglione, Renato Marino, Berardino Pollio, Paolo Radossi, Cristina Santoro, Rita Carlotta Santoro, Sergio Siragusa, Gianluca Sottilotta, Alberto Tosetto, Lydia Piscitelli, Maria Rosaria Villa, Ezio Zanon, Adele Finardi, Irene Schiavetti, Daniella Vaccari, Giancarlo Castaman, Tagliaferri, Annarita, Molinari, Angelo Claudio, Peyvandi, Flora, Coppola, Antonio, Demartis, Francesco, Biasoli, Chiara, Borchiellini, Alessandra, Cultrera, Dorina, De Cristofaro, Raimondo, Daniele, Filomena, Giordano, Paola, Marchesini, Emanuela, Margaglione, Maurizio, Marino, Renato, Pollio, Berardino, Radossi, Paolo, Santoro, Cristina, Santoro, Rita Carlotta, Siragusa, Sergio, Sottilotta, Gianluca, Tosetto, Alberto, Piscitelli, Lydia, Villa, Maria Rosaria, Zanon, Ezio, Finardi, Adele, Schiavetti, Irene, Vaccari, Daniella, and Castaman, Giancarlo

Subjects
ABR, Trough levels, annual consumption, extended half-life FIX, infusion frequency, real life, Hematology, General Medicine, Genetics (clinical)
Abstract

Introduction: Factor IX replacement therapy is used for treatment and prophylaxis of bleeding in haemophilia B. rIX-FP is an extended half-life albumin-fusion protein, which, in clinical studies, has demonstrated prolonged dosing intervals up to 21 days for routine prophylaxis, providing therapeutic benefit.Aims: To describe dosing frequency and consumption (primary endpoint), efficacy and safety of rIX-FP treatment during routine clinical practice in Italy.Methods: Patients with moderate/severe haemophilia B on prophylaxis with rIX-FP for >= 6 months, were enrolled in this observational study from October 2017 to February 2019 and followed-up for 2 years. Descriptive analysis included prospective and retrospective data (12 months prior to switching to rIX-FP).Results: Data were collected from 59 male patients (median age 30.1 years) enrolled by 23 Italian centres. Of them, 50 were on prophylaxis during the entire observation period and completed the study. The infusion frequency changed from 2-3 times/week in 86.0% of patients with previous treatment, to less than once a week in 84.0% of patients treated with rIX-FP at the 2nd-year fol low-up. The annual number of infusions decreased by about 70%, whereas the mean FIX activity trough level increased from 3.8% to 14.4% (mean > 10% in all the infusion regimens). Median Annualised Bleeding Rate of .0 was achieved across all prophylaxis regimens. Subjects with zero bleedings increased from 66.0% to 78.0% with rIX-FP.Conclusion: Treatment with rIX-FP reduced infusion frequency, while providing higher FIX trough levels with substantial benefit in terms of annualised bleeding rate and a good safety profile.

Published
2022
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21. IDEAL study: A real-world assessment of pattern of use and clinical outcomes with recombinant coagulation factor IX albumin fusion protein (rIX-FP) in patients with haemophilia B in Italy.

Author

Tagliaferri A, Molinari AC, Peyvandi F, Coppola A, Demartis F, Biasoli C, Borchiellini A, Cultrera D, De Cristofaro R, Daniele F, Giordano P, Marchesini E, Margaglione M, Marino R, Pollio B, Radossi P, Santoro C, Santoro RC, Siragusa S, Sottilotta G, Tosetto A, Piscitelli L, Villa MR, Zanon E, Finardi A, Schiavetti I, Vaccari D, and Castaman G

Subjects
Adult, Humans, Male, Albumins, Hemorrhage prevention & control, Hemorrhage drug therapy, Italy, Prospective Studies, Recombinant Fusion Proteins therapeutic use, Retrospective Studies, Factor IX therapeutic use, Hemophilia B drug therapy
Abstract

Introduction: Factor IX replacement therapy is used for treatment and prophylaxis of bleeding in haemophilia B. rIX-FP is an extended half-life albumin-fusion protein, which, in clinical studies, has demonstrated prolonged dosing intervals up to 21 days for routine prophylaxis, providing therapeutic benefit., Aims: To describe dosing frequency and consumption (primary endpoint), efficacy and safety of rIX-FP treatment during routine clinical practice in Italy., Methods: Patients with moderate/severe haemophilia B on prophylaxis with rIX-FP for ≥6 months, were enrolled in this observational study from October 2017 to February 2019 and followed-up for 2 years. Descriptive analysis included prospective and retrospective data (12 months prior to switching to rIX-FP)., Results: Data were collected from 59 male patients (median age 30.1 years) enrolled by 23 Italian centres. Of them, 50 were on prophylaxis during the entire observation period and completed the study. The infusion frequency changed from 2-3 times/week in 86.0% of patients with previous treatment, to less than once a week in 84.0% of patients treated with rIX-FP at the 2nd-year follow-up. The annual number of infusions decreased by about 70%, whereas the mean FIX activity trough level increased from 3.8% to 14.4% (mean > 10% in all the infusion regimens). Median Annualised Bleeding Rate of .0 was achieved across all prophylaxis regimens. Subjects with zero bleedings increased from 66.0% to 78.0% with rIX-FP., Conclusion: Treatment with rIX-FP reduced infusion frequency, while providing higher FIX trough levels with substantial benefit in terms of annualised bleeding rate and a good safety profile., (© 2022 CSL Behring S.p.A. Haemophilia published by John Wiley & Sons Ltd.)

Published
2023
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