Результаты поиска - Stefano Tozza

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  1. 1
    Contribution of Skin Biopsy in Peripheral Neuropathies

    Contribution of Skin Biopsy in Peripheral Neuropathies по Maria Nolano, Stefano Tozza, Giuseppe Caporaso, Vincenzo Provitera

    Опубликовано 2020
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  2. 2
    <scp>The neuropathy in hereditary transthyretin amyloidosis</scp>: A <scp>narrative review</scp>

    <scp>The neuropathy in hereditary transthyretin amyloidosis</scp>: A <scp>narrative review</scp> по Stefano Tozza, Daniele Severi, Emanuele Spina, Aniello Iovino, Francesco Aruta, Lucia Ruggiero, Raffaele Dubbioso, Rosa Iodice, Maria Nolano, Fiore Manganelli

    Опубликовано 2021
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  3. 3
    How to manage with telemedicine people with neuromuscular diseases?

    How to manage with telemedicine people with neuromuscular diseases? по Emanuele Spina, Francesca Trojsi, Stefano Tozza, Aniello Iovino, Rosa Iodice, Carla Passaniti, Gianmarco Abbadessa, Simona Bonavita, Letizia Leocani, Gioacchino Tedeschi, Fiore Manganelli, Luigi Lavorgna

    Опубликовано 2021
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  4. 4
    Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI

    Novel mutations in <i>dystonin</i> provide clues to the pathomechanisms of HSAN-VI по Fiore Manganelli, Silvia Parisi, Maria Nolano, Feifei Tao, Simona Paladino, Chiara Pisciotta, Stefano Tozza, Claudia Nesti, Adriana Rebelo, Vincenzo Provitera, Filippo M. Santorelli, Michael E. Shy, Tommaso Russo, Stephan Züchner, Lucio Santoro

    Опубликовано 2017
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  5. 5
    Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis?

    Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis? по Ângela Romano, Guido Primiano, Giovanni Antonini, Marco Ceccanti, Silvia Fenu, Francesca Forcina, Luca Gentile, Maurizio Inghilleri, Luca Leonardi, Fiore Manganelli, Laura Obici, Andrea Sabino, Maria Ausilia Sciarrone, Stefano Tozza, Francesca Vitali, Marco Luigetti

    Опубликовано 2023
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  6. 6
    Nerve conduction velocity in <scp>CMT</scp>1A: what else can we tell?

    Nerve conduction velocity in <scp>CMT</scp>1A: what else can we tell? по Fiore Manganelli, Chiara Pisciotta, Mary M. Reilly, Stefano Tozza, Angelo Schenone, Gian Maria Fabrizi, Tiziana Cavallaro, Giuseppe Vita, Luca Padua, Franco Gemignani, Matilde Laurá, R. A. C. Hughes, Alessandra Solari, Davide Pareyson, Lucio Santoro

    Опубликовано 2016
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  7. 7
    Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus

    Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus по Marina Grandis, Laura Obici, Marco Luigetti, Chiara Briani, Francesco Benedicenti, Giulia Bisogni, Marco Canepa, Francesco Cappelli, Cesare Danesino, Gian Maria Fabrizi, Silvia Fenu, Giovanna Ferrandes, Chiara Gemelli, Fiore Manganelli, Anna Mazzeo, Loredana Melchiorri, Federico Perfetto, Luca Pradotto, Paola Rimessi, Giacomo Tini, Stefano Tozza, Lucia Trevisan, Davide Pareyson, Paola Mandich

    Опубликовано 2020
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  8. 8
    Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry

    Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry по Chiara Pisciotta, Alessandro Bertini, Irene Tramacere, Fiore Manganelli, Gian Maria Fabrizi, Angelo Schenone, Stefano Tozza, Tiziana Cavallaro, Federica Taioli, Moreno Ferrarini, Marina Grandis, Emilia Bellone, Paola Mandich, Stefano C. Previtali, Yuri Falzone, Isabella Allegri, Luca Padua, C. Pazzaglia, Aldo Quattrone, Paola Valentino, Luca Gentile, Massimo Russo, Daniela Calabrese, Isabella Moroni, Emanuela Pagliano, Paola Saveri, Stefania Magri, Silvia Baratta, Franco Taroni, Anna Teresa Mazzeo, Lucio Santoro, Giuseppe Vita, Davide Pareyson

    Опубликовано 2023
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  9. 9
    Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

    Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion по Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J. Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Péréon, Cécile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Currò, Pedro José Tomaselli, Gilbert Thomas‐Black, Roisin Sullivan, Stéphanie Efthymiou, Alexander M. Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James M. Polke, Diego Kaski, Rita Horváth, Patrick F. Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nicholas Wood, Adolfo M. Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel G. Laing, Richard Roxburgh, Henry Houlden, Mary M. Reilly

    Опубликовано 2020
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  10. 10
    <i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy

    <i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy по Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stéphanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laurá, Alexander M. Rossor, Hadi Manji, Michael P. Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M. Bronstein, Henry Houlden, Mary M. Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese

    Опубликовано 2021
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  11. 11
    Patisiran in ATTRv amyloidosis with polyneuropathy: “PatisiranItaly” multicenter observational study

    Patisiran in ATTRv amyloidosis with polyneuropathy: “PatisiranItaly” multicenter observational study по Vincenzo Di Stefano, Pietro Guaraldi, Ângela Romano, Giovanni Antonini, Alessandro Barilaro, Chiara Briani, M Burattini, Ilaria Cani, Giulia Carlini, Marco Ceccanti, Vittoria Cianci, Pietro Cortelli, Marco Currò Dossi, Daniela Di Lisi, Antonio Di Muzio, Yuri Falzone, Massimiliano Filosto, Sabrina Gasverde, Chiara Gemelli, Luca Gentile, Mariangela Goglia, Luca Leonardi, Simone Longhi, A Lotti, Fiore Manganelli, Anna Mazzeo, Giammarco Milella, Giuseppina Novo, Silvia Fenu, Giovanni Palumbo, Cristina Petrelli, Loris Poli, Luca Pradotto, Massimo Russo, Alessandro Salvalaggio, Maria Ausilia Sciarrone, Luigi Sellitti, Matteo Tagliapietra, Stefano Tozza, Mara Turri, Lorenzo Verriello, Francesca Vitali, Filippo Brighina, Marco Luigetti

    Опубликовано 2025
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  12. 12
    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

    Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD по Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner

    Опубликовано 2025
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  13. 13
    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes по Andrea Cortese, Yi Zhu, Adriana Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis‐Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna Feely, Alkyoni Athanasiou‐Fragkouli, Nourelhoda A. Haridy, Aixa Rodríguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett A. McCray, Brianna Blume, Carly E. Siskind, Charlotte J. Sumner, Daniela Calabrese, David Walk, Dragan Vujović, Eun Hye Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsádi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Perez Quiros Laura, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Sadjadi, Riccardo Zuccarino, Richard S. Finkel, Richard A. Lewis, Rosemary Shy, Sabrina W. Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens‐Spraggins, Tara Jones, Thomas E. Lloyd, Tiffany Grider, Tim Estilow, Vera Fridman, Rosario Isasi, Alaa Khan, Matilde Laurá, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. Sowden, Stefano Tozza, Jana Vandrovcová, Julia E. Dallman, Elena Grignani, Enrico Marchioni, Steven S. Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al‐Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer‐Grumbach, Mohamed A. Abdelhamed, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, Michael E. Shy, R. Grace Zhai, Stephan Züchner

    Опубликовано 2020
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