F
Fabrizio Salvi
Researcher at University of Bologna
Publications - 221
Citations - 14278
Fabrizio Salvi is an academic researcher from University of Bologna. The author has contributed to research in topics: Transthyretin & Chronic cerebrospinal venous insufficiency. The author has an hindex of 56, co-authored 213 publications receiving 12721 citations. Previous affiliations of Fabrizio Salvi include Academy for Urban School Leadership & University of Ferrara.
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Journal ArticleDOI
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Janel O. Johnson,Jessica Mandrioli,Michael Benatar,Yevgeniya Abramzon,Vivianna M. Van Deerlin,John Q. Trojanowski,J. Raphael Gibbs,J. Raphael Gibbs,Maura Brunetti,Susan Gronka,Joanne Wuu,Jinhui Ding,Leo McCluskey,Maria Martinez-Lage,Dana Falcone,Dena G. Hernandez,Dena G. Hernandez,Sampath Arepalli,Sean Chong,Jennifer C. Schymick,Jeffrey D. Rothstein,Francesco Landi,Yong Dong Wang,Andrea Calvo,Gabriele Mora,Mario Sabatelli,Maria Rosaria Monsurrò,Stefania Battistini,Fabrizio Salvi,Rossella Spataro,Patrizia Sola,Giuseppe Borghero,Giuliana Galassi,Sonja W. Scholz,Sonja W. Scholz,J. Paul Taylor,Gabriella Restagno,Adriano Chiò,Bryan J. Traynor,Bryan J. Traynor +39 more
TL;DR: Exome sequencing data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neurons degeneration.
Journal ArticleDOI
Chronic cerebrospinal venous insufficiency in patients with multiple sclerosis.
Paolo Zamboni,Roberto Galeotti,Erica Menegatti,Anna Maria Malagoni,Giovanna Tacconi,Ilaria Bartolomei,Fabrizio Salvi +6 more
TL;DR: CDMS is strongly associated with CCSVI, a scenario that has not previously been described, characterised by abnormal venous haemodynamics determined by extracranial multiple venous strictures of unknown origin.
Journal ArticleDOI
Erratum exome sequencing reveals VCP mutations as a cause of familial ALS
Janel O. Johnson,Jessica Mandrioli,Michael Benatar,Yevgeniya Abramzon,Vivianna M. Van Deerlin,John Q. Trojanowski,J. Raphael Gibbs,Maura Brunetti,Susan Gronka,Joanne Wuu,Jinhui Ding,Leo McCluskey,Maria Martinez-Lage,Dana Falcone,Dena G. Hernandez,Sampath Arepalli,Sean Chong,Jennifer C. Schymick,Jeffrey D. Rothstein,Francesco Landi,Yong Dong Wang,Andrea Calvo,Gabriele Mora,Mario Sabatelli,Maria Rosaria Monsurrò,Stefania Battistini,Fabrizio Salvi,Rossella Spataro,Patrizia Sola,Giuseppe Borghero,Giuliana Galassi,Sonja W. Scholz,J. Paul Taylor,Gabriella Restagno,Adriano Chiò,Bryan J. Traynor +35 more
TL;DR: The ITALSGEN Consortium is a network of around-the-world experts, academics, and practitioners working together to provide real-time information about the human brain’s response to ALS, and to provide a scaffolding for future research.
Journal ArticleDOI
Noninvasive Etiologic Diagnosis of Cardiac Amyloidosis Using 99mTc-3,3-Diphosphono-1,2-Propanodicarboxylic Acid Scintigraphy
Enrica Perugini,Pier Luigi Guidalotti,Fabrizio Salvi,Robin M. T. Cooke,Cinzia Pettinato,Letizia Riva,Ornella Leone,Mohsen Farsad,Paolo Ciliberti,Letizia Bacchi-Reggiani,Francesco Fallani,Angelo Branzi,Claudio Rapezzi +12 more
TL;DR: It is concluded that 99mTc-DPD scintigraphy is a useful step in the workup of the differential diagnosis of TTR versus AL etiology in patients with documented cardiac amyloidosis.
Journal ArticleDOI
Systemic Cardiac Amyloidoses Disease Profiles and Clinical Courses of the 3 Main Types
Claudio Rapezzi,Giampaolo Merlini,Candida Cristina Quarta,Letizia Riva,Simone Longhi,Ornella Leone,Fabrizio Salvi,Paolo Ciliberti,Francesca Pastorelli,Elena Biagini,Fabio Coccolo,Robin M. T. Cooke,Letizia Bacchi-Reggiani,Diego Sangiorgi,Alessandra Ferlini,Michele Cavo,Elena Zamagni,Maria Luisa Fonte,Giovanni Palladini,Francesco Salinaro,Francesco Musca,Laura Obici,Angelo Branzi,Stefano Perlini +23 more
TL;DR: AL, ATTRm, and ATTRwt should be considered 3 different cardiac diseases, probably characterized by different pathophysiological substrates and courses.