Výsledky vyhledávání - Vincenzo Lupo

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  1. 1
    Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

    Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway Autor Vincenzo Lupo, Máximo Ibo Galindo, Dolores Martínez‐Rubio, Teresa Sevilla, Juan J. Vílchez, Francesc Palau, Carmen Espinós

    Vydáno 2009
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  2. 2
    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

    Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling Autor Estelle Arnaud Gouttenoire, Vincenzo Lupo, Eduardo Calpena, Luca Bartesaghi, Fanny Schüpfer, Jean‐Jacques Médard, Fabienne Maurer, J. Beckmann, Jan Senderek, Francesc Palau, Carmen Espinós, Roman Chrast

    Vydáno 2013
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  3. 3
    Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease

    Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease Autor Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio, Paula Sancho, Rafael Sivera, María José Chumillas, Mar García-Romero, Samuel Ignacio Pascual Pascual, Nuria Muelas, Joaquı́n Dopazo, Juan J. Vílchez, Francesc Palau, Carmen Espinós

    Vydáno 2015
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  4. 4
    Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

    Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy Autor Vincenzo Lupo, Francisco García‐García, Paula Sancho, Cristina Tello, Mar García-Romero, Liliana Villarreal, Antonia Albertí, Rafael Sivera, Joaquı́n Dopazo, Samuel Ignacio Pascual Pascual, C. Márquez Infante, Carlos Casasnovas, Teresa Sevilla, Carmen Espinós

    Vydáno 2016
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  5. 5
    Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations

    Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations Autor Paula Sancho, Luca Bartesaghi, Olivia Miossec, Francisco García‐García, Laura Ramírez‐Jiménez, Anna Siddell, Elisabet Åkesson, Eva Hedlund, Petra Laššuthová, Samuel Ignacio Pascual Pascual, Teresa Sevilla, Marina Kennerson, Vincenzo Lupo, Roman Chrast, Carmen Espinós

    Vydáno 2019
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  6. 6
    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing

    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing Autor Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden

    Vydáno 2024
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