检索结果 - Jorge Alonso‐Pérez

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  1. 1
    Facial scanning accuracy depending on the alignment algorithm and digitized surface area location: An in vitro study

    Facial scanning accuracy depending on the alignment algorithm and digitized surface area location: An in vitro study 由 Marta Revilla‐León, Jorge Alonso Pérez‐Barquero, Abdul Basir Barmak, Rubén Agustín‐Panadero, Lucía Fernández‐Estevan, Wael Att

    出版 2021
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  2. 2
    Influence of interdental spaces and the palate on the accuracy of maxillary scans acquired using different intraoral scanners

    Influence of interdental spaces and the palate on the accuracy of maxillary scans acquired using different intraoral scanners 由 Mohammed A. Akl, Khaled Daifallah, Jorge Alonso Pérez‐Barquero, Abdul Basir Barmak, Alvin G. Wee, Marta Revilla‐León

    出版 2023
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  3. 3
    A novel, fully digital approach to quantifying volume gain after soft tissue graft surgery. A pilot study

    A novel, fully digital approach to quantifying volume gain after soft tissue graft surgery. A pilot study 由 Carla Fons‐Badal, Jorge Alonso Pérez‐Barquero, Nuria Martínez‐ Martínez, Joan Faus‐López, Antonio Fons‐Font, Rubén Agustín‐Panadero

    出版 2019
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  4. 4
    Influence of print orientation on the accuracy (trueness and precision) of diagnostic casts manufactured with a daylight polymer printer

    Influence of print orientation on the accuracy (trueness and precision) of diagnostic casts manufactured with a daylight polymer printer 由 Jesús Maneiro Lojo, Jorge Alonso Pérez‐Barquero, Fernando García‐Sala Bonmatí, Rubén Agustín‐Panadero, Burak Yılmaz, Marta Revilla‐León

    出版 2023
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  5. 5
    Impact of scanning distance on the accuracy of a photogrammetry system

    Impact of scanning distance on the accuracy of a photogrammetry system 由 Marta Revilla‐León, Miguel Gómez‐Polo, Michael Drone, Abdul Basir Barmak, Clara Guinot‐Barona, Wael Att, John C. Kois, Jorge Alonso Pérez‐Barquero

    出版 2024
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  6. 6
    STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

    STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa 由 Kristina Gutschmidt, Olimpia Musumeci, Jordi Díaz‐Manera, Yin‐Hsiu Chien, Karl Christian Knop, Stephan Wenninger, Federica Montagnese, Alessia Pugliese, Graziana Tavilla, Jorge Alonso‐Pérez, Wuh‐Liang Hwu, António Toscano, Benedikt Schoser

    出版 2021
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  7. 7
    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

    Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations 由 Xavier Suárez‐Calvet, Esther Fernández‐Simón, Daniel Natera‐de Benito, Cristina Jou, Patricia Piñol‐Jurado, Elisa Villalobos, C. Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdú-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso‐Pérez, Chiara Marini‐Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, A. Nascimento, Jordi Díaz‐Manera

    出版 2023
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  8. 8
    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain 由 Lídia González-Quereda, Maria José Rodríguez, Jordi Díaz‐Manera, Jorge Alonso‐Pérez, Eduard Gallardo, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, Montse Olivé, Laura González, Adolfo López de Munaín, Miren Zulaica, Juan José Poza, Ivonne Jericó, Laura Torné, Pau Riera, José C. Milisenda, Aurora Sánchez, Glòria Garrabou, Isabel Llano‐Rivas, Marcos Madruga‐Garrido, P. Gallano

    出版 2020
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  9. 9
    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy 由 Jorge Alonso‐Pérez, Lidia González‐Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J. Vílchez, Mário Emílio Teixeira Dourado Júnior, Naz Kadem, Gültekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O. Crawford, Xavier Suárez‐Calvet, Ana Töpf, Michela Guglieri, Chiara Marini‐Bettolo, P. Gallano, Volker Straub, Jordi Díaz‐Manera

    出版 2021
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  10. 10
    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy 由 Jorge Alonso‐Pérez, Lídia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, P. Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andrés Nascimento, C. Ortez, Giacomo P. Comi, Leroy ten Dam, Marjolein Visser, Anneke J. van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuß, Nicoline Løkken, J. Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, B. Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sárközy, Omar Abdel‐Mannan, Alicia Alonso‐Jiménez, Kristl G. Claeys, David Gómez‐Andrés, Francina Munell, Laura Costa-Comellas, Jana Haberlová, Marie Rohlenová, De Vos Elke, Jan De Bleecker, Cristina Domínguez‐González, Giorgio Tasca, Claudia Weiß, Nicolas Deconinck, Roberto Fernández‐Torrón, Adolfo López de Munaín, Ana Camacho, Béla Melegh, Kinga Hadzsiev, Lea Leonardis, Blaž Koritnik, Matteo Garibaldi, Juan C. de León-Hernández, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Díaz-Manera

    出版 2020
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  11. 11
    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI 由 José Verdú-Díaz, C. Bolano-Díaz, A. Gonzalez-Chamorro, S Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. P. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gómez‐Andrés, J. Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge A. Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoška, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James B Lilleker, Mark Roberts, Bianca Buchignani, Jin‐Hong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sárközy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren G. Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera

    出版 2025
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  12. 12
    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

    104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) 由 Benedikt Schoser, Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera, Pascal Laforêt, Mark Roberts, António Toscano, Ans T. van der Ploeg, Jeff Castelli, Mitchell Goldman, Fred Holdbrook, Sheela Sitaraman Das, Y. Wasfi, Tahseen Mozaffar, Ágnes Sebök, Alan Pestronk, Aleksandra Dominović-Kovačević, Anzalee Khan, Blaž Koritnik, Céline Tard, Christopher Lindberg, Colin Quinn, Crystal Eldridge, Cynthia Bodkin, David Reyes‐Leiva, Derralynn Hughes, Ela Stefanescu, Emmanuelle Salort‐Campana, Ernest Butler, Françoise Bouhour, Gee Kim, George K. Papadimas, Giancarlo Parenti, Halina Bartosik-Psujek, Hani Kushlaf, Akihiro Hashiguchi, Heather Lau, Hélio Pedro, Henning Andersen, Hernán Amartino, Hideaki Shiraishi, Hiroshi Kobayashi, Ivaylo Tarnev, Jaime Vengoechea, Jennifer Avelar, Jin‐Hong Shin, John Nevin, Jonathan Cauci, Jorge Alonso‐Pérez, József Janszky, Julie Berthy, Cornelia Kornblum, Kristina Gutschmidt, Mária Judit Molnár, Marie Wencel, Mark A. Tarnopolsky, Matthias Boentert, Michel Tchan, Miriam Freimer, Nicola Longo, Nicolas J. Abreu, Nuria Vidal-Fernandez, Olimpia Musumeci, Özlem Göker-Alpan, Patrick Deegan, Paula R. Clemens, Richard Roxburgh, Robert Henderson, Robert J. Hopkin, Sabrina Sacconi, Simona Fecarotta, Shahram Attarian, Stephan Wenninger, Stephanie DeArmey, Tarekegn Hiwot, Thomas Andrew Burrow, Tobias Ruck, Tomo Sawada, Vescei Laszlo, Wolfgang N. Löscher, Yin‐Hsiu Chien

    出版 2024
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  13. 13
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness 由 Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina England, Kristen M. Laricchia, T. Mullen, Elise Valkanas, Liwen Xu, Marta Bértoli, A. Blain, Ana Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso‐Pérez, Jonathan Baets, Nina Barišić, Alexandra Bastian, S. Borell, Teodora Chamova, Kristl G. Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem De Ridder, Jordi Díaz‐Manera, Cristina Domínguez‐González, Alexis E. Duncan, Hacer Durmuş, Nagia Fahmy, Maria Elena Farrugia, Roberto Fernández‐Torrón, Lídia González-Quereda, Jana Haberlová, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, I. Jericó Pascual, Solange Kapetanovic, Viktorija Ķēniņa, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera‐Pruszczyk, R. Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munaín, Wolfgang N. Löscher, Anna Łusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, A. Nascimento, Shahriar Nafissi, Shirin Jamal Omidi, C. Ortez, Stéphanie Paquay, Yann Péréon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, I Sánchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang‐Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan J. Vílchez, Katharina Vill, John Vissing, Carina Wallgren‐Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

    出版 2020
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  14. 14
    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

    Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial 由 Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, António Toscano, Ans T. van der Ploeg, Kenneth I. Berger, Paula R. Clemens, Yin‐Hsiu Chien, John Day, С. Н. Иллариошкин, Mark Roberts, Shahram Attarian, João Borges, Francoise Bouhour, Young‐Chul Choi, Sevim Erdem‐Özdamar, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Kristina An Haack, Christopher Hug, Olivier Huynh-Ba, Judith Johnson, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková

    出版 2021
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  15. 15
    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks

    Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks 由 Priya S. Kishnani, Jordi Díaz‐Manera, António Toscano, Paula R. Clemens, Shafeeq Ladha, Kenneth I. Berger, Hani Kushlaf, Volker Straub, Gérson Carvalho, Tahseen Mozaffar, Mark Roberts, Shahram Attarian, Yin‐Hsiu Chien, Young‐Chul Choi, John Day, Sevim Erdem‐Özdamar, С. Н. Иллариошкин, Özlem Göker-Alpan, Anna Kostera‐Pruszczyk, Ans T. van der Ploeg, Kristina An Haack, Olivier Huynh-Ba, Swathi Tammireddy, Nathan Thibault, Tianyue Zhou, Mazen M. Dimachkie, Benedikt Schoser, Anthony Béhin, Matthias Boentert, Gérson Carvalho, Nizar Chahin, Joel Charrow, Patrick Deegan, Hacer Durmuş Tekçe, Fanny Duval, Angela Genge, Ludwig Gutmann, Robert D. Henderson, Julia B. Hennermann, Tarekegn Hiwot, Derralynn Hughes, Amel Karaa, Chafic Karam, Alexandra Kautzky‐Willer, Hirofumi Komaki, Pascal Laforêt, Nicola Longo, Vĕra Malinová, Ricardo Maré, Clarisa Maxit, Eugen Mengel, Maurizio Moggio, Mária Judit Molnár, Tiziana Mongini, Aleksandra Nadaj‐Pakleza, A. Nascimento Osorio, Jean‐Baptiste Noury, Acary Souza Bullé Oliveira, Yeşim Parman, Loren Peña, Gauthier Remiche, Monica Sciacco, Perry B. Shieh, Cheryl J. Smith, Thomas M. Stulnig, Frédéric Taithe, Céline Tard, Mark A. Tarnopolsky, Matthias Vorgerd, Chester B. Whitley, Peter Young, Jorge Alonso‐Pérez, Patricia Altemus, Anne-Catherine Aubé-Nathier, Jennifer Avelar, Carrie Bailey, Can Ebru Bekircan‐Kurt, Jenny Billy, Silvia Boschi, Kathryn E. Brown, Laura Carrera‐García, Lauren Chase, Hamilton Cirne, Loïc Danjoux, Jean‐Baptiste Davion, Stephanie DeArmey, E. Yu. Fedotova, Eve Gandolfo, Zoltán Grosz, Dewi Guellec, Anne-Katrin Guettsches, Michela Guglieri, Erin Hatcher, Sina Helms, Miriam Hufgard‐Leitner, S. A. Klyushnikov, Jacqui Langton, Lenka Linková, Nicolas Mavroudakis, Stella Mazurová

    出版 2023
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