檢索結果 - Gian Maria Fabrizi

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  1. 1
    Hereditary transthyretin amyloidosis overview

    Hereditary transthyretin amyloidosis overview 由 Fiore Manganelli, Gian Maria Fabrizi, Marco Luigetti, Paola Mandich, Anna Mazzeo, Davide Pareyson

    出版 2020
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  2. 2
    Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA

    Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA 由 Shuji Mita, Rosario Rizzuto, Carlos T. Moraes, Sara Shanske, Enrica Arnaudo, Gian Maria Fabrizi, Yasutoshi Koga, Salvatore DiMauro, Eric A. Schon

    出版 1990
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  3. 3
    Cytochrome c Oxidase Deficiency

    Cytochrome c Oxidase Deficiency 由 Salvatore DiMauro, Anne Lombès, Hirofumi Nakase, Shuji Mita, Gian Maria Fabrizi, Eduardo Bonilla, Armand F. Miranda, Darryl C. DeVivo, Eric A. Schon

    出版 1990
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  4. 4
    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? 由 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

    出版 2016
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  5. 5
    Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial

    Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial 由 Davide Pareyson, Mary M. Reilly, Angelo Schenone, Gian Maria Fabrizi, Tiziana Cavallaro, Lucio Santoro, Giuseppe Vita, Aldo Quattrone, Luca Padua, Franco Gemignani, Francesco Visioli, Matilde Laurá, D. Radice, Daniela Calabrese, Richard AC Hughes, Alessandra Solari

    出版 2011
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  6. 6
    Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup>signalling

    Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup>signalling 由 Elisa Gregianin, Giorgia Pallafacchina, Sofia Zanin, V. Crippa, P. Rusmini, Angelo Poletti, Mingyan Fang, Zhouxuan Li, Laura Diano, Antonio Petrucci, Ludovico Lispi, Tiziana Cavallaro, Gian Maria Fabrizi, M. Muglia, Francesca Boaretto, Andrea Vettori, Rosario Rizzuto, Maria Luisa Mostacciuolo, Giovanni Vazza

    出版 2016
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  7. 7
    Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers

    Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers 由 Alessandro Salvalaggio, Daniele Coraci, Mario Cacciavillani, Laura Obici, Anna Mazzeo, Marco Luigetti, Francesca Pastorelli, Marina Grandis, Tiziana Cavallaro, Giulia Bisogni, Alessandro Lozza, Chiara Gemelli, Luca Gentile, Mario Ermani, Gian Maria Fabrizi, R. Plasmati, Marta Campagnolo, Francesca Castellani, Roberto Gasparotti, Carlo Martinoli, Luca Padua, Chiara Briani

    出版 2020
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  8. 8
    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes

    Dominant <i>GDAP1</i> mutations cause predominantly mild CMT phenotypes 由 M. Zimoń, Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska, Jacek Pilch, Alice B. Schindler, David R. Cornblath, Kenneth H. Fischbeck, Michaela Auer‐Grumbach, Christian Guelly, Nina Huber, Els De Vriendt, Vincent Timmerman, Ueli Suter, I Hausmanowa-Pétrusewicz, Axel Niemann, Andrzej Kochański, Peter De Jonghe, Albena Jordanova

    出版 2011
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  9. 9
    Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

    Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 由 Justin P. Rubio, Adrian Danek, Caroline Stone, R. M. Chalmers, Nicholas Wood, Christine Verellen, Xavier Ferrer, Alessandro Malandrini, Gian Maria Fabrizi, M. Manfredi, Jeffery M. Vance, Margaret A. Pericak‐Vance, Robert H. Brown, Gabrielle Rudolf, Fabienne Picard, Elisa Alonso, Mitchell F. Brin, Andrea H. Németh, Martin Farrall, Anthony P. Monaco

    出版 1997
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  10. 10
    Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

    Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy 由 Jan Senderek, Carsten Bergmann, Claudia Stendel, Jutta Kirfel, Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman, Roman Chrast, Mark H. G. Verheijen, Greg Lemke, Esra Battaloğlu, Yeşim Parman, Sevim Erdem‐Özdamar, Ersin Tan, Haluk Topaloğlu, Andreas Hahn, Wolfgang Müller‐Felber, Nicolo’ Rizzuto, Gian Maria Fabrizi, Manfred Stuhrmann, Sabine Rudnik–Schöneborn, Stephan Züchner, J. M. Schröder, Eckhard Buchheim, Volker Straub, Jörg Klepper, Kathrin Huehne, Bernd Rautenstrauß, Reinhard Büttner, Eva Nelis, Klaus Zerres

    出版 2003
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  11. 11
    Genetic spectrum of hereditary neuropathies with onset in the first year of life

    Genetic spectrum of hereditary neuropathies with onset in the first year of life 由 Jonathan Baets, Tine Deconinck, Els De Vriendt, M. Zimoń, Laetitia Yperzeele, Kim Van Hoorenbeeck, Kristien Peeters, Ronen Spiegel, Yeşim Parman, Berten Ceulemans, Patrick Van Bogaert, A Pou-Serradell, G. Bernert, Argyrios Dinopoulos, Michaela Auer‐Grumbach, Satu‐Leena Sallinen, Gian Maria Fabrizi, F. Pauly, Peter Van den Bergh, Birdal Bilir, Esra Battaloğlu, R. E. Madrid, Dagmara Kabzińska, Andrzej Kochański, Haluk Topaloğlu, G. Miller, Albena Jordanova, Vincent Timmerman, Peter De Jonghe

    出版 2011
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  12. 12
    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 由 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

    出版 2023
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  13. 13
    Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions

    Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions 由 Massimiliano Filosto, Stefano Cotti Piccinelli, Stefano Gazzina, Camillo Foresti, Barbara Frigeni, Maria Cristina Servalli, Maria Sessa, Giuseppe Cosentino, Enrico Marchioni, Sabrina Ravaglia, Chiara Briani, Francesca Castellani, Gabriella Zara, Francesca Bianchi, Ubaldo Del Carro, Raffaella Fazio, Massimo Filippi, Eugenio Magni, Giuseppe Natalini, Francesco Palmerini, Anna Maria Perotti, Andrea Bellomo, Maurizio Osio, Giuseppe Scopelliti, M. Carpo, Andrea Rasera, Giovanna Squintani, Pietro Emiliano Doneddu, Valeria Bertasi, Maria Sofia Cotelli, Laura Bertolasi, Gian Maria Fabrizi, Sérgio Ferrari, Federico Ranieri, Francesca Caprioli, Elena Grappa, Laura Broglio, Giovanni De Maria, Ugo Leggio, Loris Poli, Frank Rasulo, Nicola Latronico, Eduardo Nobile‐Orazio, Alessandro Padovani, Antonino Uncini

    出版 2020
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  14. 14
    <scp>Guillain‐Barré</scp> syndrome and <scp>COVID</scp>‐19: A 1‐year observational multicenter study

    <scp>Guillain‐Barré</scp> syndrome and <scp>COVID</scp>‐19: A 1‐year observational multicenter study 由 Massimiliano Filosto, Stefano Cotti Piccinelli, Stefano Gazzina, Camillo Foresti, Barbara Frigeni, Maria Cristina Servalli, Maria Sessa, Giuseppe Cosentino, Enrico Marchioni, Sabrina Ravaglia, Chiara Briani, Francesca Castellani, Gabriella Zara, Francesca Bianchi, Ubaldo Del Carro, Raffaella Fazio, Massimo Filippi, Eugenio Magni, Giuseppe Natalini, Francesco Palmerini, Anna Maria Perotti, Andrea Bellomo, Maurizio Osio, Caterina Nascimbene, M. Carpo, Andrea Rasera, Giovanna Squintani, Pietro Emiliano Doneddu, Valeria Bertasi, Maria Sofia Cotelli, Laura Bertolasi, Gian Maria Fabrizi, Sérgio Ferrari, Federico Ranieri, Francesca Caprioli, Elena Grappa, Paolo Manganotti, Giulia Bellavita, Giovanni Furlanis, Giovanni De Maria, Ugo Leggio, Loris Poli, Frank Rasulo, Nicola Latronico, Eduardo Nobile‐Orazio, Ettore Beghi, Alessandro Padovani, Antonino Uncini

    出版 2022
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  15. 15
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease 由 Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo López de Munaín, Fiore Manganelli, Marina Kennerson, Filippo M. Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M. Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferrán Prados, Tarek Yousry, Vikram Khurana, Sheng‐Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette M. Hartmann, Nazlı Başak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M. Reilly, Henry Houlden, Andrea Cortese

    出版 2023
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  16. 16
    Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

    Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration 由 Julie van der Zee, Tim Van Langenhove, Gábor G. Kovács, Lubina Dillen, William Deschamps, Sebastiaan Engelborghs, Radoslav Matěj, Mathieu Vandenbulcke, Anne Sieben, Bart Dermaut, Katrien Smets, Philip Van Damme, Céline Merlin, Annelies Laureys, Marleen Van den Broeck, Maria Mattheijssens, Karin Peeters, Luisa Benussi, Giuliano Binetti, Roberta Ghidoni, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Pau Pástor, Cristina Razquín, Sara Ortega‐Cubero, Isabel Hernández, Merçé Boada, Agustı́n Ruiz, Alexandre de Mendonça, Gábriel Miltenberger-Miltényi, Frederico Simões do Couto, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Caroline Graff, Huei-Hsin Chiang, Håkan Thonberg, Robert Perneczky, Janine Diehl‐Schmid, Panagiotis Alexopoulos, Giovanni B. Frisoni, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Lüdger Schöls, Tobias B. Haack, Tim M. Strom, Holger Prokisch, Oriol Dols‐Icardo, Jordi Clarimón, Alberto Lleó, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Michael T. Heneka, Frank Jessen, Alfredo Ramı́rez, Raquel Sánchez‐Valle, Albert Lladó, Ellen Gelpí, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Eva Parobková, Gian Maria Fabrizi, Silvia Testi, Éric Salmon, Thomas Ströbel, Patrick Santens, Wim Robberecht, Peter De Jonghe, Jean‐Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Kristel Sleegers, Christine Van Broeckhoven

    出版 2014
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  17. 17
    <i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

    <i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis 由 Julie van der Zee, Ilse Gijselinck, Sara Van Mossevelde, Federica Perrone, Lubina Dillen, Bavo Heeman, Veerle Bäumer, Sebastiaan Engelborghs, Jan De Bleecker, Jonathan Baets, Ellen Gelpí, Ricardo Rojas-García, Jordi Clarimón, Alberto Lleó, Janine Diehl‐Schmid, Panagiotis Alexopoulos, Robert Perneczky, Matthis Synofzik, Jennifer Just, Lüdger Schöls, Caroline Graff, Håkan Thonberg, Barbara Borroni, Alessandro Padovani, Albena Jordanova, Stayko Sarafov, Ivailo Tournev, Alexandre de Mendonça, Gábriel Miltenberger-Miltényi, Frederico Simões do Couto, Alfredo Ramı́rez, Frank Jessen, Michael T. Heneka, Estrella Gómez‐Tortosa, Adrian Danek, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Peter Paul De Deyn, Kristel Sleegers, Marc Cruts, Christine Van Broeckhoven, Johan Goeman, Dirk Nuytten, Katrien Smets, Wim Robberecht, Philip Van Damme, Jan De Bleecker, Patrick Santens, Bart Dermaut, Jan Versijpt, Alex Michotte, Adrian Ivanoiu, Olivier Deryck, Bruno Bergmans, Jean Delbeck, M. Bruyland, Christiana Willems, Éric Salmon, Pau Pástor, Sara Ortega‐Cubero, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Isabel Hernández, Merçé Boada, Agustı́n Ruiz, Sandro Sorbi, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Raquel Sánchez‐Valle, Albert Lladó, Isabel Santana, Maria Rosário Almeida, Giovanni B. Frisoni, Walter Maetzler, Radoslav Matěj, Matthew J. Fraidakis, Gábor G. Kovács, Gian Maria Fabrizi, Silvia Testi

    出版 2016
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  18. 18
    A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

    A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats 由 Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl‐Schmid, Alexandre de Mendonça, Gábriel Miltenberger-Miltényi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei‐Hsin Chiang, Marie Westerlund, Raquel Sánchez‐Valle, Albert Lladó, Ellen Gelpí, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni B. Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen, Lüdger Schöls, Michael T. Heneka, Frank Jessen, Radoslav Matěj, Eva Parobková, Gábor G. Kovács, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Éric Salmon, Patrick Santens, Jean‐Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P. De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P. De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl‐Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller vom Hagen

    出版 2012
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