Misdiagnoses of transthyretin amyloidosis: a clinical and electrodiagnostic study

por Cortese, Andrea, Lozza, Alessandro, Vegezzi, Elisa, Alfonsi, Enrico, Moglia, Arrigo, Merlini, Giampaolo, Obici, Laura
Publicado 2015

Effect of monovalency on anti-contactin-1 IgG4

por Taieb, Guillaume, Jentzer, Alexandre, Vegezzi, Elisa, Lleixà, Cinta, Illa, Isabel, Querol, Luis, Devaux, Jérôme J.
Publicado 2023

Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy

por Cortese, Andrea, Vegezzi, Elisa, Lozza, Alessandro, Alfonsi, Enrico, Montini, Alessandra, Moglia, Arrigo, Merlini, Giampaolo, Obici, Laura
Publicado 2017

Acute myelitis and ChAdOx1 nCoV-19 vaccine: Casual or causal association?

por Vegezzi, Elisa, Ravaglia, Sabrina, Buongarzone, Gabriele, Bini, Paola, Diamanti, Luca, Gastaldi, Matteo, Prunetti, Paolo, Rognone, Elisa, Marchioni, Enrico
Publicado 2021

The Potential Role of SARS-CoV-2 Infection and Vaccines in Multiple Sclerosis Onset and Reactivation: A Case Series and Literature Review

por Tavazzi, Eleonora, Pichiecchio, Anna, Colombo, Elena, Rigoni, Eleonora, Asteggiano, Carlo, Vegezzi, Elisa, Masi, Francesco, Greco, Giacomo, Bastianello, Stefano, Bergamaschi, Roberto
Publicado 2023

COVID-19 and Guillain-Barré syndrome: A single-center prospective case series with a 1-year follow-up

por Ahmad, Lara, Businaro, Pietro, Regalbuto, Simone, Gastaldi, Matteo, Zardini, Elisabetta, Panzeri, Marta, Vegezzi, Elisa, Fiamingo, Giuseppe, Colombo, Elena, Ravaglia, Sabrina
Publicado 2022

Variable echo time imaging for detecting the short T2* components of the sciatic nerve: a validation study

por Felisaz, Paolo Florent, Belatti, Eugenio, Deligianni, Xeni, Bergsland, Niels, Santini, Francesco, Paoletti, Matteo, Solazzo, Francesca, Germani, Giancarlo, Cortese, Andrea, Vegezzi, Elisa, Bieri, Oliver, Bastianello, Stefano, Pichiecchio, Anna
Publicado 2020

Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

por Zanotti, Simona, Ripolone, Michela, Napoli, Laura, Velardo, Daniele, Salani, Sabrina, Ciscato, Patrizia, Priori, Silvia, Kukavica, Deni, Mazzanti, Andrea, Diamanti, Luca, Vegezzi, Elisa, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo, Sciacco, Monica
Publicado 2023

Visual System Involvement in Glial Fibrillary Acidic Protein Astrocytopathy: Two Case Reports and a Systematic Literature Review

por Greco, Giacomo, Masciocchi, Stefano, Diamanti, Luca, Bini, Paola, Vegezzi, Elisa, Marchioni, Enrico, Colombo, Elena, Rigoni, Eleonora, Businaro, Pietro, Ferraro, Ottavia E., Bianchi Marzoli, Stefania, Bergamaschi, Roberto, Franciotta, Diego, Gastaldi, Matteo
Publicado 2023

Human Herpesvirus 6 Encephalitis in Immunocompetent and Immunocompromised Hosts

por Berzero, Giulia, Campanini, Giulia, Vegezzi, Elisa, Paoletti, Matteo, Pichiecchio, Anna, Simoncelli, Anna Maria, Colombo, Anna Amelia, Bernasconi, Paolo, Borsani, Oscar, Di Matteo, Angela, Rossi, Virginia, Foiadelli, Thomas, Savasta, Salvatore, Compagno, Francesca, Zecca, Marco, Baldanti, Fausto, Marchioni, Enrico
Publicado 2021

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

por Facchini, Stefano, Dominik, Natalia, Manini, Arianna, Efthymiou, Stephanie, Currò, Riccardo, Rugginini, Bianca, Vegezzi, Elisa, Quartesan, Ilaria, Perrone, Benedetta, Kutty, Shahedah Koya, Galassi Deforie, Valentina, Schnekenberg, Ricardo P., Abati, Elena, Pichiecchio, Anna, Valente, Enza Maria, Tassorelli, Cristina, Reilly, Mary M., Houlden, Henry, Bugiardini, Enrico, Cortese, Andrea
Publicado 2023

Adoptive Transfer of JC Virus‐Specific T Lymphocytes for the Treatment of Progressive Multifocal Leukoencephalopathy

por Berzero, Giulia, Basso, Sabrina, Stoppini, Luca, Palermo, Andrea, Pichiecchio, Anna, Paoletti, Matteo, Lucev, Federica, Gerevini, Simonetta, Rossi, Andrea, Vegezzi, Elisa, Diamanti, Luca, Bini, Paola, Gastaldi, Matteo, Delbue, Serena, Perotti, Cesare, Seminari, Elena, Faraci, Maura, Luppi, Mario, Baldanti, Fausto, Zecca, Marco, Marchioni, Enrico, Comoli, Patrizia
Publicado 2021

Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study

por Vegezzi, Elisa, Cortese, Andrea, Bergsland, Niels, Mussinelli, Roberta, Paoletti, Matteo, Solazzo, Francesca, Currò, Riccardo, Ascagni, Lucia, Callegari, Ilaria, Quartesan, Ilaria, Lozza, Alessandro, Deligianni, Xeni, Santini, Francesco, Marchioni, Enrico, Cosentino, Giuseppe, Alfonsi, Enrico, Tassorelli, Cristina, Bastianello, Stefano, Merlini, Giampaolo, Palladini, Giovanni, Obici, Laura, Pichiecchio, Anna
Publicado 2022

Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges

por Efthymiou, Stephanie, Lemmers, Richard J. L. F., Vishnu, Venugopalan Y., Dominik, Natalia, Perrone, Benedetta, Facchini, Stefano, Vegezzi, Elisa, Ravaglia, Sabrina, Wilson, Lindsay, van der Vliet, Patrick J., Mishra, Rinkle, Reyaz, Alisha, Ahmad, Tanveer, Bhatia, Rohit, Polke, James M., Srivastava, Mv Padma, Cortese, Andrea, Houlden, Henry, van der Maarel, Silvère M., Hanna, Michael G., Bugiardini, Enrico
Publicado 2023

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

por Ronco, Riccardo, Perini, Cecilia, Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Gennari, Alice, Simone, Roberto, Stuart, Skye, Nagy, Sara, Vegezzi, Elisa, Quartesan, Ilaria, El-Saddig, Amar, Lavin, Timothy, Tucci, Arianna, Szymura, Agnieszka, Novis De Farias, Luiz Eduardo, Gary, Alexander, Delfeld, Megan, Kandikatla, Priscilla, Niu, Nifang, Tawde, Sanjukta, Shaw, Joseph, Polke, James, Reilly, Mary M., Wood, Nick W., Crespan, Emmanuele, Gomez, Christopher, Chen, Jin Yun Helen, Schmahmann, Jeremy Dan, Gosal, David, Houlden, Henry, Das, Soma, Cortese, Andrea
Publicado 2023

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis

por Dominik, Natalia, Magri, Stefania, Currò, Riccardo, Abati, Elena, Facchini, Stefano, Corbetta, Marinella, Macpherson, Hannah, Di Bella, Daniela, Sarto, Elisa, Stevanovski, Igor, Chintalaphani, Sanjog R, Akcimen, Fulya, Manini, Arianna, Vegezzi, Elisa, Quartesan, Ilaria, Montgomery, Kylie-Ann, Pirota, Valentina, Crespan, Emmanuele, Perini, Cecilia, Grupelli, Glenda Paola, Tomaselli, Pedro J, Marques, Wilson, Shaw, Joseph, Polke, James, Salsano, Ettore, Fenu, Silvia, Pareyson, Davide, Pisciotta, Chiara, Tofaris, George K, Nemeth, Andrea H, Ealing, John, Radunovic, Aleksandar, Kearney, Seamus, Kumar, Kishore R, Vucic, Steve, Kennerson, Marina, Reilly, Mary M, Houlden, Henry, Deveson, Ira, Tucci, Arianna, Taroni, Franco, Cortese, Andrea
Publicado 2023

RFC1 expansions are a common cause of idiopathic sensory neuropathy

por Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea
Publicado 2021

Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype

por Cortese, Andrea, Lombardi, Raffaella, Briani, Chiara, Callegari, Ilaria, Benedetti, Luana, Manganelli, Fiore, Luigetti, Marco, Ferrari, Sergio, Clerici, Angelo M., Marfia, Girolama Alessandra, Rigamonti, Andrea, Carpo, Marinella, Fazio, Raffaella, Corbo, Massimo, Mazzeo, Anna, Giannini, Fabio, Cosentino, Giuseppe, Zardini, Elisabetta, Currò, Riccardo, Gastaldi, Matteo, Vegezzi, Elisa, Alfonsi, Enrico, Berardinelli, Angela, Kouton, Ludivine, Manso, Constance, Giannotta, Claudia, Doneddu, Pietro, Dacci, Patrizia, Piccolo, Laura, Ruiz, Marta, Salvalaggio, Alessandro, De Michelis, Chiara, Spina, Emanuele, Topa, Antonietta, Bisogni, Giulia, Romano, Angela, Mariotto, Sara, Mataluni, Giorgia, Cerri, Federica, Stancanelli, Claudia, Sabatelli, Mario, Schenone, Angelo, Marchioni, Enrico, Lauria, Giuseppe, Nobile-Orazio, Eduardo, Devaux, Jérôme, Franciotta, Diego
Publicado 2019

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy

por Martín-Aguilar, Lorena, Lleixà, Cinta, Pascual-Goñi, Elba, Caballero-Ávila, Marta, Martínez-Martínez, Laura, Díaz-Manera, Jordi, Rojas-García, Ricard, Cortés-Vicente, Elena, Turon-Sans, Janina, de Luna, Noemi, Suárez-Calvet, Xavier, Gallardo, Eduard, Rajabally, Yusuf, Scotton, Sangeeta, Jacobs, Bart C., Baars, Adája, Cortese, Andrea, Vegezzi, Elisa, Höftberger, Romana, Zimprich, Fritz, Roesler, Cornelia, Nobile-Orazio, Eduardo, Liberatore, Giuseppe, Hiew, Fu Liong, Martínez-Piñeiro, Alicia, Carvajal, Alejandra, Piñar-Morales, Raquel, Usón-Martín, Mercedes, Albertí, Olalla, López-Pérez, Maria Ángeles, Márquez, Fabian, Pardo-Fernández, Julio, Muñoz-Delgado, Laura, Cabrera-Serrano, Macarena, Ortiz, Nicolau, Bartolomé, Manuel, Duman, Özgür, Bril, Vera, Segura-Chávez, Darwin, Pitarokoili, Kalliopi, Steen, Claudia, Illa, Isabel, Querol, Luis
Publicado 2021