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158 results on '"Alonso‐Pérez, Jorge"'

1. Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

Author

Piñol-Jurado, Patricia, Verdú-Díaz, José, Fernández-Simón, Esther, Domínguez-González, Cristina, Hernández-Lain, Aurelio, Lawless, Conor, Vincent, Amy, González-Chamorro, Alejandro, Villalobos, Elisa, Monceau, Alexandra, Laidler, Zoe, Mehra, Priyanka, Clark, James, Filby, Andrew, McDonald, David, Rushton, Paul, Bowey, Andrew, Alonso Pérez, Jorge, Tasca, Giorgio, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Suárez-Calvet, Xavier, and Díaz-Manera, Jordi

Published
2024
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2. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi

Published
2023
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3. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi

Published
2024
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4. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial

Author

Tawil, Rabi, Wagner, Kathryn R, Hamel, Johanna I, Leung, Doris G, Statland, Jeffrey M, Wang, Leo H, Genge, Angela, Sacconi, Sabrina, Lochmüller, Hanns, Reyes-Leiva, David, Diaz-Manera, Jordi, Alonso-Perez, Jorge, Muelas, Nuria, Vilchez, Juan J, Pestronk, Alan, Gibson, Summer, Goyal, Namita A, Hayward, Lawrence J, Johnson, Nicholas, LoRusso, Samantha, Freimer, Miriam, Shieh, Perry B, Subramony, S H, van Engelen, Baziel, Kools, Joost, Leinhard, Olof Dahlqvist, Widholm, Per, Morabito, Christopher, Moxham, Christopher M, Cadavid, Diego, Mellion, Michelle L, Odueyungbo, Adefowope, Tracewell, William G, Accorsi, Anthony, Ronco, Lucienne, Gould, Robert J, Shoskes, Jennifer, Rojas, Luis Alejandro, and Jiang, John G

Published
2024
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5. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Author

Martinez-Marin, Rafael Jenaro, Reyes-Leiva, David, Nascimento, Andrés, Muelas, Nuria, Dominguez-González, C., Paradas, Carmen, Olivé, Montse, García-Romero, Mar, Pascual-Pascual, Samuel Ignacio, Grau, Josep Maria, Barba-Romero, Miguel Angel, Gomez-Caravaca, Maria Teresa, de las Heras, Javier, Casquero, Pilar, Mendoza, Maria Dolores, de León, Juan Carlos, Gutierrez, Antonio, Morís, Germán, Blanco-Lago, Raquel, Ramos-Fransi, Alba, Pintós, Guillem, García-Antelo, Maria José, Rabasa, Maria, Morgado, Yolanda, Usón, Mercedes, Miralles, Francisco Javier, Bárcena-Llona, Jose Eulalio, Gómez-Belda, Ana Belén, Pedraza-Hueso, Maria Isabel, Hortelano, Miryam, Colomé, Antoni, Garcia-Martin, Guillermina, Lopez de Munain, Adolfo, Jericó, Ivonne, Galán-Dávila, Lucía, Pardo, Julio, Salgueiro-Origlia, Giorgina, Alonso-Pérez, Jorge, Pla-Junca, Francesc, Schiava, Marianela, Segovia-Simón, Sonia, and Díaz-Manera, Jordi

Published
2024
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6. Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

Author

Esteller, Diana, Morrow, Jasper, Alonso-Pérez, Jorge, Reyes, David, Carbayo, Alvaro, Bisogni, Giulia, Cateruccia, Michela, Monforte, Mauro, Tasca, Giorgio, Alangary, Aljwhara, Marini-Bettolo, Chiara, Sabatelli, Mario, Laura, Matilde, Ramdharry, Gita, Bolaño-Díaz, Carla, Turon-Sans, Janina, Töpf, Ana, Guglieri, Michella, Rossor, Alexander M., Olive, Montse, Bertini, Enrico, Straub, Volker, Reilly, Mary M., Rojas-García, Ricard, and Díaz-Manera, Jordi

Published
2023
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7. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Author

Domínguez-González, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Vélez-Gómez, Beatriz, Cabezas, Juan Antonio, Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servian-Morilla, Emilia, Martin, Miguel A., Díaz-Manera, Jordi, and Paradas, Carmen

Published
2022
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9. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Sebok, Agnes, Pestronk, Alan, Dominovic-Kovacevic, Aleksandra, Khan, Aneal, Koritnik, Blaž, Tard, Celine, Lindberg, Christopher, Quinn, Colin, Kornblum, Cornelia, Eldridge, Crystal, Bodkin, Cynthia, Reyes-Leiva, David, Hughes, Derralynn, Stefanescu, Ela, SALORT-CAMPANA, Emmanuelle, Butler, Ernest, Bouhour, Francoise, Kim, Gee, Konstantinos Papadimas, George, Parenti, Giancarlo, Bartosik-Psujek, Halina, Kushlaf, Hani, Akihiro, Hashiguchi, Lau, Heather, Pedro, Helio, Andersen, Henning, Amartino, Hernan, Shiraishi, Hideaki, Kobayashi, Hiroshi, Tarnev, Ivaylo, Vengoechea, Jaime, Avelar, Jennifer, Shin, Jin-Hong, Cauci, Jonathan, Alonso-Pérez, Jorge, Janszky, Jozsef, Berthy, Julie, Gutschmidt, Kristina, Claeys, Kristl, Judit Molnar, Maria, Wencel, Marie, Tarnopolsky, Mark, Dimachkie, Mazen, Tchan, Michel, Freimer, Miriam, Longo, Nicola, Vidal-Fernandez, Nuria, Musumeci, Olimpia, Goker-Alpan, Ozlem, Deegan, Patrick, Clemens, Paula R., Roxburgh, Richard, Henderson, Robert, Hopkin, Robert, Sacconi, Sabrina, Fecarotta, Simona, Attarian, Shahram, Wenninger, Stephan, Dearmey, Stephanie, Hiwot, Tarekegn, Burrow, Thomas, Ruck, Tobias, Sawada, Tomo, Laszlo, Vescei, Löscher, Wolfgang, Chien, Yin-Hsiu, Schoser, Benedikt, Roberts, Mark, Byrne, Barry J, Sitaraman, Sheela, Jiang, Hai, Laforêt, Pascal, Toscano, Antonio, Castelli, Jeff, Díaz-Manera, Jordi, Goldman, Mitchell, van der Ploeg, Ans T, Bratkovic, Drago, Kuchipudi, Srilakshmi, Mozaffar, Tahseen, and Kishnani, Priya S

Published
2021
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10. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt

Published
2021
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12. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Author

Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez-Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna, Kulshrestha, Richa, Lähdetie, Jaana, Layegh, Mahsa, Longman, Cheryl, López de Munain, Adolfo, Loscher, Wolfgang, Lusakowska, Anna, Maddison, Paul, Magot, Armelle, Majumdar, Anirban, Martí, Pilar, Martínez Arroyo, Amaia, Mazanec, Radim, Mercier, Sandra, Mongini, Tiziana, Muelas, Nuria, Nascimento, Andrés, Nafissi, Shahriar, Omidi, Shirin, Ortez, Carlos, Paquay, Stéphanie, Pereon, Yann, Perić, Stojan, Ponzalino, Valentina, Rakočević Stojanović, Vidosava, Remiche, Gauthier, Rodríguez Sainz, Aida, Rudnik, Sabine, Sanchez Albisua, Iciar, Santos, Manuela, Schara, Ulrike, Shatillo, Andriy, Sertić, Jadranka, Stephani, Ulrich, Strang-Karlsson, Sonja, Sznajer, Yves, Tanev, Ani, Tournev, Ivailo, Van den Bergh, Peter, Van Parijs, Vinciane, Vílchez, Juan, Vill, Katharina, Vissing, John, Wallgren-Pettersson, Carina, Wanschitz, Julia, Willis, Tracey, Witting, Nanna, Zulaica, Miren, and Straub, Volker

Published
2020
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15. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

Author

Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, González-Quereda, Lidia, Alonso-Pérez, Jorge, Belmonte, Izaskun, Pedrosa-Hernández, Irene, Montiel, Elena, Segovia, Sonia, Suárez-Calvet, Xavier, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Barba-Romero, Miguel Angel, Barcena, Joseba, Paradas, Carmen, Carzorla, María Rosario, Creus, Carlota, Coll-Cantí, Jaume, Díaz, Manuel, Domínguez, Cristina, Fernández-Torrón, Roberto, García-Antelo, Maria José, Grau, Josep Maria, López de Munáin, Adolfo, Martínez-García, Francisco Antonio, Morgado, Yolanda, Moreno, Antonio, Morís, Germán, Muñoz-Blanco, Miguel Angel, Nascimento, Andres, Parajuá-Pozo, José Luis, Querol, Luis, Rojas, Ricard, Robledo-Strauss, Arturo, Rojas-Marcos, Íñigo, Salazar, Jose António, Usón, Mercedes, and Díaz-Manera, Jordi

Published
2019
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16. Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy.

Author

Fernández-Simón, Esther, Piñol-Jurado, Patricia, Gokul-Nath, Rasya, Unsworth, Adrienne, Alonso-Pérez, Jorge, Schiava, Marianela, Nascimento, Andres, Tasca, Giorgio, Queen, Rachel, Cox, Dan, Suarez-Calvet, Xavier, and Díaz-Manera, Jordi

Subjects
DUCHENNE muscular dystrophy, RNA sequencing, DYSTROPHIN genes, GENE expression profiling, SATELLITE cells, FACIOSCAPULOHUMERAL muscular dystrophy, NEMALINE myopathy
Abstract

Background: Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. Muscle degeneration involves a complex interplay between multiple cell lineages spatially located within areas of damage, termed the degenerative niche, including inflammatory cells, satellite cells (SCs) and fibro-adipogenic precursor cells (FAPs). FAPs are mesenchymal stem cell which have a pivotal role in muscle homeostasis as they can either promote muscle regeneration or contribute to muscle degeneration by expanding fibrotic and fatty tissue. Although it has been described that FAPs could have a different behavior in DMD patients than in healthy controls, the molecular pathways regulating their function as well as their gene expression profile are unknown. Methods: We used single-cell RNA sequencing (scRNAseq) with 10X Genomics and Illumina technology to elucidate the differences in the transcriptional profile of isolated FAPs from healthy and DMD patients. Results: Gene signatures in FAPs from both groups revealed transcriptional differences. Seurat analysis categorized cell clusters as proliferative FAPs, regulatory FAPs, inflammatory FAPs, and myofibroblasts. Differentially expressed genes (DEGs) between healthy and DMD FAPs included upregulated genes CHI3L1, EFEMP1, MFAP5, and TGFBR2 in DMD. Functional analysis highlighted distinctions in system development, wound healing, and cytoskeletal organization in control FAPs, while extracellular organization, degradation, and collagen degradation were upregulated in DMD FAPs. Validation of DEGs in additional samples (n = 9) using qPCR reinforced the specific impact of pathological settings on FAP heterogeneity, reflecting their distinct contribution to fibro or fatty degeneration in vivo. Conclusion: Using the single-cell RNA seq from human samples provide new opportunities to study cellular coordination to further understand the regulation of muscle homeostasis and degeneration that occurs in muscular dystrophies. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

Author

Martinez-Marin, Rafael Jenaro, primary, Reyes-Leiva, David, additional, Nascimento, Andrés, additional, Muelas, Nuria, additional, Dominguez-González, C., additional, Paradas, Carmen, additional, Olivé, Montse, additional, Pascual, Samuel Ignacio Pascual, additional, Grau, Josep Maria, additional, Barba-Romero, Miguel Angel, additional, Gomez-Caravaca, Maria Teresa, additional, Heras, Javier de las, additional, Casquero, Pilar, additional, Mendoza, Maria Dolores, additional, de León, Juan Carlos, additional, Gutierrez, Antonio, additional, Morís, Germán, additional, Blanco-Lago, Raquel, additional, Ramos-Fransi, Alba, additional, Pintós, Guillem, additional, García-Antelo, Maria José, additional, Rabasa, Maria, additional, Morgado, Yolanda, additional, Usón, Mercedes, additional, Miralles, Francisco Javier, additional, Bárcena-Llona, Jose Eulalio, additional, Gómez-Belda, Ana Belén, additional, Hueso, Maria Isabel Pedraza, additional, Hortelano, Miryam, additional, Colomé, Antoni, additional, Martín, Guillermina García, additional, de Munain, Adolfo López, additional, Jericó, Ivonne, additional, Dávila, Lucía Galán, additional, Pardo, Julio, additional, Origlia, Giorgina Salgueiro, additional, Alonso-Pérez, Jorge, additional, Pla-Junca, Francesc, additional, Schiava, Marianela, additional, Segovia-Simón, Sonia, additional, and Díaz-Manera, Jordi, additional

Published
2023
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18. Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

Author

Dominguez-Gonzalez, Cristina, Badosa, Carmen, Madruga-Garrido, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Diaz-Manera, Jordi, Berardo, Andres, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana G., Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramon, Mavillard, Fabiola, Martin, Miguel A., Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, and Jimenez-Mallebrera, Cecilia

Published
2020
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20. Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis

Author

Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Castellví, Ivan, Carrasco-Rozas, Ana, Fernández-Simón, Esther, Zamora, Carlos, Martínez-Martínez, Laura, Alonso-Jiménez, Alicia, Rojas-García, Ricardo, Turón, Joana, Querol, Luis, de Luna, Noemi, Milena-Millan, Ana, Corominas, Héctor, Castillo, Diego, Cortés-Vicente, Elena, Illa, Isabel, Gallardo, Eduard, and Díaz-Manera, Jordi

Published
2020
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23. PDGF-BB serum levels are decreased in adult onset Pompe patients

Author

Fernández-Simón, Esther, Carrasco-Rozas, Ana, Gallardo, Eduard, Figueroa-Bonaparte, Sebastián, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Suárez-Calvet, Xavier, Alonso-Pérez, Jorge, Segovia, Sonia, Nuñez-Peralta, Claudia, Llauger, Jaume, Mayos, Mercedes, Illa, Isabel, Spanish Pompe Study Group, and Díaz-Manera, Jordi

Published
2019
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24. Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice

Author

Alonso-Pérez, Jorge, primary, Carrasco-Rozas, Ana, additional, Borrell-Pages, Maria, additional, Fernández-Simón, Esther, additional, Piñol-Jurado, Patricia, additional, Badimon, Lina, additional, Wollin, Lutz, additional, Lleixà, Cinta, additional, Gallardo, Eduard, additional, Olivé, Montse, additional, Díaz-Manera, Jordi, additional, and Suárez-Calvet, Xavier, additional

Published
2022
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25. Muscle MRI in McArdle Disease

Author

Løkken, Nicoline, primary, Revsbech, Karoline Lolk, additional, Jacobsen, Laura Nørager, additional, Martinuzzi, Andrea, additional, Martin, Miguel Ángel, additional, Díaz-Manera, Jordi, additional, Dominguez-Gonzalez, Cristina, additional, Brondani, Giovanni, additional, Musumeci, Olimpia, additional, Granata, Francesca, additional, Stefan, Cristina, additional, Merino-Sanchez, Concepción, additional, Peralta, Claudia Nuñez, additional, Khawajazada, Tahmina, additional, Alonso-Pérez, Jorge, additional, Toscano, Antonio, additional, and Vissing, John, additional

Published
2022
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26. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

Author

Poyatos‐García, Javier, primary, Martí, Pilar, additional, Liquori, Alessandro, additional, Muelas, Nuria, additional, Pitarch, Inmaculada, additional, Martinez‐Dolz, Luis, additional, Rodríguez, Benjamin, additional, Gonzalez‐Quereda, Lidia, additional, Damiá, Maria, additional, Aller, Elena, additional, Selva‐Gimenez, Marta, additional, Vilchez, Roger, additional, Diaz‐Manera, Jordi, additional, Alonso‐Pérez, Jorge, additional, Barcena, José Eulalio, additional, Jauregui, Amaia, additional, Gámez, Josep, additional, Aladrén, Jesus Angel, additional, Fernández, Ariadna, additional, Montolio, Marisol, additional, Azorin, Inmaculada, additional, Hervas, David, additional, Casasús, Ana, additional, Nieto, Marisa, additional, Gallano, Pia, additional, Sevilla, Teresa, additional, and Vilchez, Juan Jesus, additional

Published
2022
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27. An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation

Author

Koehorst, Emma, primary, Odria, Renato, additional, Capó, Júlia, additional, Núñez-Manchón, Judit, additional, Arbex, Andrea, additional, Almendrote, Miriam, additional, Linares-Pardo, Ian, additional, Natera-de Benito, Daniel, additional, Saez, Verónica, additional, Nascimento, Andrés, additional, Ortez, Carlos, additional, Rubio, Miguel Ángel, additional, Díaz-Manera, Jordi, additional, Alonso-Pérez, Jorge, additional, Lucente, Giuseppe, additional, Rodriguez-Palmero, Agustín, additional, Ramos-Fransi, Alba, additional, Martínez-Piñeiro, Alicia, additional, Nogales-Gadea, Gisela, additional, and Suelves, Mònica, additional

Published
2022
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28. Muscle MRI in McArdle Disease:A European Multicenter Observational Study

Author

Løkken, Nicoline, Revsbech, Karoline Lolk, Jacobsen, Laura Nørager, Martinuzzi, Andrea, Martin, Miguel Ángel, Díaz-Manera, Jordi, Dominguez-Gonzalez, Cristina, Brondani, Giovanni, Musumeci, Olimpia, Granata, Francesca, Stefan, Cristina, Merino-Sanchez, Concepción, Peralta, Claudia Nuñez, Khawajazada, Tahmina, Alonso-Pérez, Jorge, Toscano, Antonio, Vissing, John, Løkken, Nicoline, Revsbech, Karoline Lolk, Jacobsen, Laura Nørager, Martinuzzi, Andrea, Martin, Miguel Ángel, Díaz-Manera, Jordi, Dominguez-Gonzalez, Cristina, Brondani, Giovanni, Musumeci, Olimpia, Granata, Francesca, Stefan, Cristina, Merino-Sanchez, Concepción, Peralta, Claudia Nuñez, Khawajazada, Tahmina, Alonso-Pérez, Jorge, Toscano, Antonio, and Vissing, John

Abstract

Background and ObjectivesGlycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur, but it is typically mild and described as located around the shoulder girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature. This study aimed to quantify fat replacement of paraspinal, shoulder, and lower limb muscles by magnetic resonance imaging in a European cohort of patients with GSDV.MethodsThis observational study included patients with verified GSDV and healthy controls (HCs). Whole-body MRIs and clinical data were collected. The degree of muscle fat replacement was evaluated on T1-weighted images with the semiquantitative visual Mercuri scale and on Dixon images where individual muscle fat fractions (FFs) were quantitatively calculated.ResultsMRIs and clinical data from a total of 57 patients with GSDV (age 44.3 ± 15.2 years) from 5 European centers were assessed and compared with findings in 30 HCs (age 42.4 ± 14.8 years). Patients with GSDV had significantly more fat replacement of the paraspinal muscles compared with HCs on all levels investigated, detected by both the Mercuri and the Dixon method (Dixon, paraspinal composite FF [GSDV vs HC] at the cervical level: 31.3 ± 13.1 vs 15.4 ± 7.8; thoracic level: 34.5±19.0 vs 16.9±8.6; and lumbar level: 43.9 ± 19.6 vs 21.8 ± 10.2 [p < 0.0001]). Patients with GSDV also had significantly more fat replacement of the shoulder muscles (evaluated by the Mercuri scale), along with significantly, but numerically less, fat replacement of thigh and calf muscles compared with HC (Dixon, lower limb composite FF [GSDV vs HC] at the thigh level: 12.0 ± 5.6 vs 8.8 ± 2.7 and calf level: 13.1 ± 6.7 vs 9.1 ± 2.9 [p ≤ 0.05]).DiscussionThe primary findings are that patients with GSDV exhibit severe fat replacement of the paraspinal muscles, whi

Published
2022

29. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

Author

Instituto de Salud Carlos III, European Commission, European Reference Network for rare Neuromuscular Diseases, Xarxes d’Unitats d’Expertesa Clínica en Malalties Minoritàries, Domínguez-Gonzalez, Cristina [0000-0001-5151-988X], Díaz-Manera, Jordi [0000-0003-2941-7988], Paradas, Carmen [0000-0002-6917-2236], Domínguez-Gonzalez, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, Fuenmayor-Fernández de la Hoz, Carlos Pablo de, Vélez Gómez, Beatriz, Cabezas, Juan A., Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servián Morilla, E., Martín, Miguel Ángel, Díaz-Manera, Jordi, Paradas, Carmen, Instituto de Salud Carlos III, European Commission, European Reference Network for rare Neuromuscular Diseases, Xarxes d’Unitats d’Expertesa Clínica en Malalties Minoritàries, Domínguez-Gonzalez, Cristina [0000-0001-5151-988X], Díaz-Manera, Jordi [0000-0003-2941-7988], Paradas, Carmen [0000-0002-6917-2236], Domínguez-Gonzalez, Cristina, Fernández-Torrón, Roberto, Moore, Ursula, Fuenmayor-Fernández de la Hoz, Carlos Pablo de, Vélez Gómez, Beatriz, Cabezas, Juan A., Alonso-Pérez, Jorge, González-Mera, Laura, Olivé, Montse, García-García, Jorge, Moris, Germán, León Hernández, Juan Carlos, Muelas, Nuria, Servián Morilla, E., Martín, Miguel Ángel, Díaz-Manera, Jordi, and Paradas, Carmen

Abstract

[Background and objective] TK2 deficiency (TK2d) is a rare mitochondrial disorder that manifests predominantly as a progressive myopathy with a broad spectrum of severity and age of onset. The rate of progression is variable, and the prognosis is poor due to early and severe respiratory involvement. Early and accurate diagnosis is particularly important since a specific treatment is under development. This study aims to evaluate the diagnostic value of lower limb muscle MRI in adult patients with TK2d., [Methods] We studied a cohort of 45 genetically confirmed patients with mitochondrial myopathy (16 with mutations in TK2, 9 with mutations in other nuclear genes involved in mitochondrial DNA [mtDNA] synthesis or maintenance, 10 with single mtDNA deletions, and 10 with point mtDNA mutations) to analyze the imaging pattern of fat replacement in lower limb muscles. We compared the identified pattern in patients with TK2d with the MRI pattern of other non-mitochondrial genetic myopathies that share similar clinical characteristics., [Results] We found a consistent lower limb muscle MRI pattern in patients with TK2d characterized by involvement of the gluteus maximus, gastrocnemius medialis, and sartorius muscles. The identified pattern in TK2 patients differs from the known radiological involvement of other resembling muscle dystrophies that share clinical features., [Conclusions] By analyzing the largest cohort of muscle MRI from patients with mitochondrial myopathies studied to date, we identified a characteristic and specific radiological pattern of muscle involvement in patients with TK2d that could be useful to speed up its diagnosis.

Published
2022

30. Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands

Author

Alonso‐Pérez, Jorge, primary, de León Hernández, Juan Carlos, additional, Pérez‐Pérez, Helena, additional, Mendoza‐Grimón, María Dolores, additional, Gutierrez‐Martinez, Antonio José, additional, Hadjigeorgiou, Ioanna, additional, Montón‐Álvarez, Fernando, additional, González‐Quereda, Lidia, additional, Alonso‐Jimenez, Alicia, additional, Suárez‐Calvet, Xavier, additional, and Díaz‐Manera, Jordi, additional

Published
2022
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31. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author

Diaz-Manera, Jordi, primary, Kishnani, Priya S, additional, Kushlaf, Hani, additional, Ladha, Shafeeq, additional, Mozaffar, Tahseen, additional, Straub, Volker, additional, Toscano, Antonio, additional, van der Ploeg, Ans T, additional, Berger, Kenneth I, additional, Clemens, Paula R, additional, Chien, Yin-Hsiu, additional, Day, John W, additional, Illarioshkin, Sergey, additional, Roberts, Mark, additional, Attarian, Shahram, additional, Borges, Joao Lindolfo, additional, Bouhour, Francoise, additional, Choi, Young Chul, additional, Erdem-Ozdamar, Sevim, additional, Goker-Alpan, Ozlem, additional, Kostera-Pruszczyk, Anna, additional, Haack, Kristina An, additional, Hug, Christopher, additional, Huynh-Ba, Olivier, additional, Johnson, Judith, additional, Thibault, Nathan, additional, Zhou, Tianyue, additional, Dimachkie, Mazen M, additional, Schoser, Benedikt, additional, Behin, Anthony, additional, Boentert, Matthias, additional, Carvalho, Gerson, additional, Chahin, Nizar, additional, Charrow, Joel, additional, Deegan, Patrick, additional, Durmus Tekce, Hacer, additional, Duval, Fanny, additional, Genge, Angela, additional, Gutmann, Ludwig, additional, Henderson, Robert D, additional, Hennermann, Julia B, additional, Hiwot, Tarekegn, additional, Hughes, Derralynn, additional, Karaa, Amel, additional, Karam, Chafic, additional, Kautzky-Willer, Alexandra, additional, Komaki, Hirofumi, additional, Laforet, Pascal, additional, Longo, Nicola, additional, Malinova, Vera, additional, Maré, Ricardo, additional, Maxit, Clarisa, additional, Mengel, Eugen, additional, Moggio, Maurizio Gualtiero, additional, Molnár, Mária Judit, additional, Mongini, Tiziana Enrica, additional, Nadaj-Pakleza, Aleksandra, additional, Nascimento Osorio, Andres, additional, Noury, Jean-Baptiste, additional, Oliveira, Acary Souza Bulle, additional, Parman, Yesim, additional, Pena, Loren, additional, Remiche, Gauthier, additional, Sciacco, Monica, additional, Shieh, Perry B, additional, Smith, Cheryl, additional, Stulnig, Thomas, additional, Taithe, Frederic, additional, Tard, Céline, additional, Tarnopolsky, Mark, additional, Vorgerd, Matthias, additional, Whitley, Chester, additional, Young, Peter, additional, Alonso-Pérez, Jorge, additional, Altemus, Patricia, additional, Aubé-Nathier, Anne-Catherine, additional, Avelar, Jennifer B, additional, Bailey, Carrie, additional, Bekircan-Kurt, Can Ebru, additional, Billy, Jenny, additional, Boschi, Silvia, additional, Brown, Kathryn E, additional, Carrera Garcia, Laura, additional, Chase, Lauren, additional, Cirne, Hamilton, additional, Danjoux, Loïc, additional, Davion, Jean-Baptiste, additional, DeArmey, Stephanie, additional, Fedotova, Ekaterina, additional, Gandolfo, Eve, additional, Grosz, Zoltan, additional, Guellec, Dewi, additional, Guettsches, Anne-Katrin, additional, Guglieri, Michela, additional, Hatcher, Erin, additional, Helms, Sina, additional, Hufgard-Leitner, Miriam, additional, Klyushnikov, Sergey A., additional, Langton, Jacqui, additional, Linková, Lenka, additional, Mavroudakis, Nicolas, additional, Mazurová, Stella, additional, Mori, Madoka, additional, Müller-Miny, Louisa, additional, Musumeci, Olimpia, additional, Nance, Christopher S, additional, Natera-de Benito, Daniel, additional, Neel, Robert, additional, Niizawa, Gabriela A, additional, Noll, Lauren, additional, Ortega, Erik, additional, Pasnoor, Mamatha, additional, Pautot, Vivien, additional, Potulska-Chromik, Anna, additional, Pugliese, Alessia, additional, Questienne, Claire, additional, Ramos Lopes, Margarida, additional, Reyes-Leiva, David, additional, Riedl, Michaela, additional, Rugiero, Marcelo Francisco, additional, Salort-Campana, Emmanuelle, additional, Sgobbi Souza, Paulo Victor, additional, Sole, Guilhem, additional, Solera, Luca, additional, Souto Lopes, Suzara, additional, Specht, Sabine, additional, Statland, Jeffrey, additional, Swenson, Andrea, additional, Tan, Chong Yew, additional, Tizon, Sónia, additional, van der Beek, N A M E, additional, van Kooten, Harmke A., additional, Wencel, Marie, additional, Wenninger, Stephan, additional, and Zagnoli, Fabien, additional

Published
2021
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32. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

Author

Schoser, Benedikt, primary, Roberts, Mark, additional, Byrne, Barry J, additional, Sitaraman, Sheela, additional, Jiang, Hai, additional, Laforêt, Pascal, additional, Toscano, Antonio, additional, Castelli, Jeff, additional, Díaz-Manera, Jordi, additional, Goldman, Mitchell, additional, van der Ploeg, Ans T, additional, Bratkovic, Drago, additional, Kuchipudi, Srilakshmi, additional, Mozaffar, Tahseen, additional, Kishnani, Priya S, additional, Sebok, Agnes, additional, Pestronk, Alan, additional, Dominovic-Kovacevic, Aleksandra, additional, Khan, Aneal, additional, Koritnik, Blaž, additional, Tard, Celine, additional, Lindberg, Christopher, additional, Quinn, Colin, additional, Eldridge, Crystal, additional, Bodkin, Cynthia, additional, Reyes-Leiva, David, additional, Hughes, Derralynn, additional, Stefanescu, Ela, additional, SALORT-CAMPANA, Emmanuelle, additional, Butler, Ernest, additional, Bouhour, Francoise, additional, Kim, Gee, additional, Konstantinos Papadimas, George, additional, Parenti, Giancarlo, additional, Bartosik-Psujek, Halina, additional, Kushlaf, Hani, additional, Akihiro, Hashiguchi, additional, Lau, Heather, additional, Pedro, Helio, additional, Andersen, Henning, additional, Amartino, Hernan, additional, Shiraishi, Hideaki, additional, Kobayashi, Hiroshi, additional, Tarnev, Ivaylo, additional, Vengoechea, Jaime, additional, Avelar, Jennifer, additional, Shin, Jin-Hong, additional, Cauci, Jonathan, additional, Alonso-Pérez, Jorge, additional, Janszky, Jozsef, additional, Berthy, Julie, additional, Cornelia, Kornblum, additional, Gutschmidt, Kristina, additional, Claeys, Kristl, additional, Judit Molnar, Maria, additional, Wencel, Marie, additional, Tarnopolsky, Mark, additional, Dimachkie, Mazen, additional, Tchan, Michel, additional, Freimer, Miriam, additional, Longo, Nicola, additional, Vidal-Fernandez, Nuria, additional, Musumeci, Olimpia, additional, Goker-Alpan, Ozlem, additional, Deegan, Patrick, additional, Clemens, Paula R., additional, Roxburgh, Richard, additional, Henderson, Robert, additional, Hopkin, Robert, additional, Sacconi, Sabrina, additional, Fecarotta, Simona, additional, Attarian, Shahram, additional, Wenninger, Stephan, additional, Dearmey, Stephanie, additional, Hiwot, Tarekegn, additional, Burrow, Thomas, additional, Ruck, Tobias, additional, Sawada, Tomo, additional, Laszlo, Vescei, additional, Löscher, Wolfgang, additional, and Chien, Yin-Hsiu, additional

Published
2021
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33. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

Author

Alonso-Pérez, Jorge, primary, González-Quereda, Lidia, additional, Bruno, Claudio, additional, Panicucci, Chiara, additional, Alavi, Afagh, additional, Nafissi, Shahriar, additional, Nilipour, Yalda, additional, Zanoteli, Edmar, additional, Isihi, Lucas Michielon de Augusto, additional, Melegh, Béla, additional, Hadzsiev, Kinga, additional, Muelas, Nuria, additional, Vílchez, Juan J, additional, Dourado, Mario Emilio, additional, Kadem, Naz, additional, Kutluk, Gultekin, additional, Umair, Muhammad, additional, Younus, Muhammad, additional, Pegorano, Elena, additional, Bello, Luca, additional, Crawford, Thomas O, additional, Suárez-Calvet, Xavier, additional, Töpf, Ana, additional, Guglieri, Michela, additional, Marini-Bettolo, Chiara, additional, Gallano, Pia, additional, Straub, Volker, additional, and Díaz-Manera, Jordi, additional

Published
2021
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34. Isolation of human fibroadipogenic progenitors and satellite cells from frozen muscle biopsies

Author

Suárez‐Calvet, Xavier, primary, Fernández‐Simón, Esther, additional, Piñol‐Jurado, Patricia, additional, Alonso‐Pérez, Jorge, additional, Carrasco‐Rozas, Ana, additional, Lleixà, Cinta, additional, López‐Fernández, Susana, additional, Pons, Gemma, additional, Soria, Laura, additional, Bigot, Anne, additional, Mouly, Vincent, additional, Illa, Isabel, additional, Gallardo, Eduard, additional, Jaiswal, Jyoti K., additional, and Díaz‐Manera, Jordi, additional

Published
2021
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36. Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

Author

Sivera, Rafael, primary, Lupo, Vincenzo, additional, Frasquet, Marina, additional, Argente‐Escrig, Herminia, additional, Alonso‐Pérez, Jorge, additional, Díaz‐Manera, Jordi, additional, Querol, Luis, additional, Mar García‐Romero, María, additional, Ignacio Pascual, Samuel, additional, García‐Sobrino, Tania, additional, Paradas, Carmen, additional, Francisco Vázquez‐Costa, Juan, additional, Muelas, Nuria, additional, Millet, Elvira, additional, Jesús Vílchez, Juan, additional, Espinós, Carmen, additional, and Sevilla, Teresa, additional

Published
2021
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37. Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests

Author

Nuñez-Peralta, Claudia, primary, Montesinos, Paula, additional, Alonso-Jiménez, Alicia, additional, Alonso-Pérez, Jorge, additional, Reyes-Leiva, David, additional, Sánchez-González, Javier, additional, Llauger-Roselló, Jaume, additional, Segovia, Sonia, additional, Belmonte, Izaskun, additional, Pedrosa, Irene, additional, Martínez-Noguera, Antonio, additional, Matellini-Mosca, Briano, additional, Walter, Glenn, additional, and Díaz-Manera, Jordi, additional

Published
2021
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40. Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies

Author

Alonso-Jiménez, Alicia, primary, Fernández-Simón, Esther, additional, Natera-de Benito, Daniel, additional, Ortez, Carlos, additional, García, Carme, additional, Montiel, Elena, additional, Belmonte, Izaskun, additional, Pedrosa, Irene, additional, Segovia, Sonia, additional, Piñol-Jurado, Patricia, additional, Carrasco-Rozas, Ana, additional, Suárez-Calvet, Xavier, additional, Jimenez-Mallebrera, Cecilia, additional, Nascimento, Andrés, additional, Llauger, Jaume, additional, Nuñez-Peralta, Claudia, additional, Montesinos, Paula, additional, Alonso-Pérez, Jorge, additional, Gallardo, Eduard, additional, Illa, Isabel, additional, and Díaz-Manera, Jordi, additional

Published
2021
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41. Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests

Author

Nuñez-Peralta, Claudia, primary, Montesinos, Paula, additional, Alonso-Jiménez, Alicia, additional, Alonso-Pérez, Jorge, additional, Reyes-Leiva, David, additional, Sánchez-González, Javier, additional, Llauger-Roselló, Jaume, additional, Segovia, Sonia, additional, Belmonte, Izaskun, additional, Pedrosa, Irene, additional, Martínez-Noguera, Antonio, additional, Matellini-Mosca, Briano, additional, Walter, Glenn, additional, and Díaz-Manera, Jordi, additional

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

Author

Alonso-Pérez, Jorge, primary, González-Quereda, Lidia, additional, Bello, Luca, additional, Guglieri, Michela, additional, Straub, Volker, additional, Gallano, Pia, additional, Semplicini, Claudio, additional, Pegoraro, Elena, additional, Zangaro, Vittoria, additional, Nascimento, Andrés, additional, Ortez, Carlos, additional, Comi, Giacomo Pietro, additional, Dam, Leroy ten, additional, De Visser, Marianne, additional, van der Kooi, A J, additional, Garrido, Cristina, additional, Santos, Manuela, additional, Schara, Ulrike, additional, Gangfuß, Andrea, additional, Løkken, Nicoline, additional, Storgaard, Jesper Helbo, additional, Vissing, John, additional, Schoser, Benedikt, additional, Dekomien, Gabriele, additional, Udd, Bjarne, additional, Palmio, Johanna, additional, D'Amico, Adele, additional, Politano, Luisa, additional, Nigro, Vincenzo, additional, Bruno, Claudio, additional, Panicucci, Chiara, additional, Sarkozy, Anna, additional, Abdel-Mannan, Omar, additional, Alonso-Jimenez, Alicia, additional, Claeys, Kristl G, additional, Gomez-Andrés, David, additional, Munell, Francina, additional, Costa-Comellas, Laura, additional, Haberlová, Jana, additional, Rohlenová, Marie, additional, Elke, De Vos, additional, De Bleecker, Jan L, additional, Dominguez-González, Cristina, additional, Tasca, Giorgio, additional, Weiss, Claudia, additional, Deconinck, Nicolas, additional, Fernández-Torrón, Roberto, additional, López de Munain, Adolfo, additional, Camacho-Salas, Ana, additional, Melegh, Béla, additional, Hadzsiev, Kinga, additional, Leonardis, Lea, additional, Koritnik, Blaz, additional, Garibaldi, Matteo, additional, de Leon-Hernández, Juan Carlos, additional, Malfatti, Edoardo, additional, Fraga-Bau, Arturo, additional, Richard, Isabelle, additional, Illa, Isabel, additional, and Díaz-Manera, Jordi, additional

Published
2020
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44. Gender dimorphism of intramuscular fatty infiltration and related muscle dysfunction in patients with long-term control of acromegaly

Author

Martel-Duguech, Luciana, primary, Alonso-Pérez, Jorge, additional, Bascuñana, Helena, additional, Diaz-Manera, Jordi, additional, Alonso-Jimenez, Alicia, additional, Llauger, Jaume, additional, Nuñez-Peralta, Claudia, additional, Montesinos, Paula, additional, Webb, Susan M., additional, and Valassi, Elena, additional

Published
2020
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45. Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

Author

Nuñez‐Peralta, Claudia, primary, Alonso‐Pérez, Jorge, additional, Llauger, Jaume, additional, Segovia, Sonia, additional, Montesinos, Paula, additional, Belmonte, Izaskun, additional, Pedrosa, Irene, additional, Montiel, Elena, additional, Alonso‐Jiménez, Alicia, additional, Sánchez‐González, Javier, additional, Martínez‐Noguera, Antonio, additional, Illa, Isabel, additional, and Díaz‐Manera, Jordi, additional

Published
2020
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46. High prevalence of paraspinal muscle involvement in adults with McArdle disease.

Author

Álvarez‐Velasco, Rodrigo, Nuñez‐Peralta, Claudia Alejandra, Alonso‐Pérez, Jorge, Gallardo, Eduard, Collet‐Vidiella, Roger, Reyes‐Leiva, David, Pascual‐Goñi, Elba, Martín‐Aguilar, Lorena, Caballero‐Ávila, Marta, Carbayo‐Viejo, Álvaro, Llauger‐Roselló, Jaume, Díaz‐Manera, Jordi, and Olivé, Montse

Abstract

Introduction/Aims: Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been reported to date. We aimed to examine the pattern of muscle fat replacement in patients with McArdle disease. Methods: We performed a retrospective study including all patients with genetically confirmed McArdle disease followed in our center from January 2010 to March 2021. Clinical data were collected from the medical record. Whole‐body MRI was performed as part of the diagnostic evaluation. The distribution of muscle fat replacement and its severity were analyzed. Results: Nine patients were included. Median age at onset was 7 y (range, 5–58) and median age at the time when MRI was performed was 57.3 y (range, 37.2–72.8). At physical examination, four patients had permanent weakness: in three the weakness was limited to paraspinal muscles, whereas in one the weakness involved the paraspinal and proximal upper limb muscles. Muscle MRI showed abnormalities in six of the seven studied patients. In all of them, fat replacement of paravertebral muscles was found. Other muscles frequently affected were the tongue in three, subscapularis in three, and long head of biceps femoris and semimembranosus in two. Discussion: Our findings suggest that paraspinal muscle involvement is common in McArdle disease and support the need to include this disease in the differential diagnosis of the causes of paraspinal muscle weakness. Involvement of the tongue and subscapularis are also frequent in McArdle disease. [ABSTRACT FROM AUTHOR]

Published
2022
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47. genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness

Author

Töpf, Ana, Johnson, Katherine, Bates, Adam, Phillips, Lauren, Chao, Katherine R., England, Eleina M., Laricchia, Kristen M., Mullen, Thomas, Valkanas, Elise, Xu, Liwen, Bertoli, Marta, Blain, Alison, Casasús, Ana B., Duff, Jennifer, Mroczek, Magdalena, Specht, Sabine, Lek, Monkol, Ensini, Monica, MacArthur, Daniel G., Akay, Ela, Alonso-Pérez, Jorge, Baets, Jonathan, Barisic, Nina, Bastian, Alexandra, Borell, Sabine, Chamova, Teodora, Claeys, Kristl, Colomer, Jaume, Coppens, Sandra, Deconinck, Nicolas, de Ridder, Willem, Díaz-Manera, Jordi, Domínguez-González, Cristina, Duncan, Alexis, Durmus, Hacer, Fahmy, Nagia A., Farrugia, Maria Elena, Fernández-Torrón, Roberto, Gonzalez- Quereda, Lidia, Haberlova, Jana, von der Hagen, Maja, Hahn, Andreas, Jakovčević, Antonia, Jerico Pascual, Ivonne, Kapetanovic, Solange, Kenina, Viktorija, Kirschner, Janbernd, Klein, Andrea, Kölbel, Heike, Kostera-Pruszczyk, Anna, Kulshrestha, Richa, Lähdetie, Jaana, Layegh, Mahsa, Longman, Cheryl, López de Munain, Adolfo, Loscher, Wolfgang, Lusakowska, Anna, Maddison, Paul, Magot, Armelle, Majumdar, Anirban, Martí, Pilar, Martínez Arroyo, Amaia, Mazanec, Radim, Mercier, Sandra, Mongini, Tiziana, Muelas, Nuria, Nascimento, Andrés, Nafissi, Shahriar, Omidi, Shirin, Ortez, Carlos, Paquay, Stéphanie, Pereon, Yann, Perić, Stojan, Ponzalino, Valentina, Rakočević Stojanović, Vidosava, Remiche, Gauthier, Rodríguez Sainz, Aida, Rudnik, Sabine, Sanchez Albisua, Iciar, Santos, Manuela, Schara, Ulrike, Shatillo, Andriy, Sertić, Jadranka, Stephani, Ulrich, Strang- Karlsson, Sonja, Sznajer, Yves, Tanev, Ani, Tournev, Ivailo, Van den Bergh, Peter, Van Parijs, Vinciane, Vílchez, Juan, Vill, Katharina, Vissing, John, Wallgren-Pettersson, Carina, Wanschitz, Julia, Willis, Tracey, Witting, Nanna, Zulaica, Miren, and Straub, Volker

Subjects
genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, targeted exome analysis
Abstract

Purpose: Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. Methods: Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers ; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions. Results: We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases ; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation. Conclusion: Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes. .

Published
2020

48. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Author

Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, González-Quereda, Lidia, Bello, Luca, Guglieri, Michela, Straub, Volker, Gallano, Pia, Semplicini, Claudio, Pegoraro, Elena, Zangaro, Vittoria, Nascimento, Andrés, Ortez, Carlos, Comi, Giacomo Pietro, Dam, Leroy Ten, De Visser, Marianne, van der Kooi, A J, Garrido, Cristina, Santos, Manuela, Schara, Ulrike, Gangfuß, Andrea, Løkken, Nicoline, Storgaard, Jesper Helbo, Vissing, John, Schoser, Benedikt, Dekomien, Gabriele, Udd, Bjarne, Palmio, Johanna, D'Amico, Adele, Politano, Luisa, Nigro, Vincenzo, Bruno, Claudio, Panicucci, Chiara, Sarkozy, Anna, Abdel-Mannan, Omar, Alonso-Jimenez, Alicia, Claeys, Kristl G, Gomez-Andrés, David, Munell, Francina, Costa-Comellas, Laura, Haberlová, Jana, Rohlenová, Marie, Elke, De Vos, De Bleecker, Jan L, Dominguez-González, Cristina, Tasca, Giorgio, Weiss, Claudia, Deconinck, Nicolas, Fernández-Torrón, Roberto, López de Munain, Adolfo, Camacho-Salas, Ana, Melegh, Béla, Hadzsiev, Kinga, Leonardis, Lea, Koritnik, Blaz, Garibaldi, Matteo, de Leon-Hernández, Juan Carlos, Malfatti, Edoardo, Fraga-Bau, Arturo, Richard, Isabelle, Illa, Isabel, and Díaz-Manera, Jordi

Abstract

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians involved in the diagnosis, management and care of patients with LGMDR3-6 created a European Sarcoglycanopathy Consortium. The aim of the present study was to determine the clinical and genetic spectrum of a large cohort of patients with sarcoglycanopathy in Europe. This was an observational retrospective study. A total of 33 neuromuscular centres from 13 different European countries collected data of the genetically confirmed patients with sarcoglycanopathy followed-up at their centres. Demographic, genetic and clinical data were collected for this study. Data from 439 patients from 13 different countries were collected. Forty-three patients were not included in the analysis because of insufficient clinical information available. A total of 159 patients had a confirmed diagnosis of LGMDR3, 73 of LGMDR4, 157 of LGMDR5 and seven of LGMDR6. Patients with LGMDR3 had a later onset and slower progression of the disease. Cardiac involvement was most frequent in LGMDR4. Sixty per cent of LGMDR3 patients carried one of the following mutations, either in a homozygous or heterozygous state: c.229C>T, c.739G>A or c.850C>T. Similarly, the most common mutations in LMGDR5 patients were c.525delT or c.848G>A. In LGMDR4 patients the most frequent mutation was c.341C>T. We identified onset of symptoms before 10 years of age and residual protein expression lower than 30% as independent risk factors for losing ambulation before 18 years of age, in LGMDR3, LGMDR4 and LGMDR5 patients. This study reports clinical, genetic and protein data of a large European cohort of patients with sarcoglycanopathy. Improving our knowledge about these extremely rare autosomal recessive forms of LGMD was helped by a collaborative effort of neuro

Published
2020

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

Author

Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Centro de Investigación Biomédica en Red Enfermedades Raras (España), González-Quereda, Lidia, Rodríguez, María José, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, Gallardo, Eduard, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Olivé, Montse, González-Mera, Laura, López de Munain, Adolfo, Zulaica, Miren, Poza, Juan José, Jericó, Ivonne, Torne, Laura, Riera, Pau, Milisenda, José, Sánchez, Aurora, Garrabou, Glòria, Llano, Isabel, Madruga, Marcos, Gallano, Pia, Instituto de Salud Carlos III, European Commission, Fundación Mutua Madrileña, Centro de Investigación Biomédica en Red Enfermedades Raras (España), González-Quereda, Lidia, Rodríguez, María José, Díaz-Manera, Jordi, Alonso-Pérez, Jorge, Gallardo, Eduard, Nascimento, Andrés, Ortez, Carlos, Natera-de Benito, Daniel, Olivé, Montse, González-Mera, Laura, López de Munain, Adolfo, Zulaica, Miren, Poza, Juan José, Jericó, Ivonne, Torne, Laura, Riera, Pau, Milisenda, José, Sánchez, Aurora, Garrabou, Glòria, Llano, Isabel, Madruga, Marcos, and Gallano, Pia

Abstract

The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such as TTN, NEB and RYR1. We evaluated the diagnostic value of a custom targeted next-generation sequencing gene panel to study the mutational spectrum of a subset of NMD patients in Spain. In an NMD cohort of 207 patients with congenital myopathies, distal myopathies, congenital and adult-onset muscular dystrophies, and congenital myasthenic syndromes, we detected causative mutations in 102 patients (49.3%), involving 42 NMD-related genes. The most common causative genes, TTN and RYR1, accounted for almost 30% of cases. Thirty-two of the 207 patients (15.4%) carried variants of uncertain significance or had an unidentified second mutation to explain the genetic cause of the disease. In the remaining 73 patients (35.3%), no candidate variant was identified. In combination with patients’ clinical and myopathological data, the custom gene panel designed in our lab proved to be a powerful tool to diagnose patients with myopathies, muscular dystrophies and congenital myasthenic syndromes. Targeted NGS approaches enable a rapid and cost-effective analysis of NMD- related genes, offering reliable results in a short time and relegating invasive techniques to a second tier.

Published
2020

50. Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

Author

Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Muscular Dystrophy Association (US), Arturo Estopinan TK2 Research Fund, Domínguez-Gonzalez, Cristina, Badosa, María Carmen, Madruga, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Díaz-Manera, Jordi, Berardo, Andrés, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana Graciela, Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramón, Mavillard, Fabiola, Martín, Miguel Ángel, Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Muscular Dystrophy Association (US), Arturo Estopinan TK2 Research Fund, Domínguez-Gonzalez, Cristina, Badosa, María Carmen, Madruga, Marcos, Martí, Itxaso, Paradas, Carmen, Ortez, Carlos, Díaz-Manera, Jordi, Berardo, Andrés, Alonso-Pérez, Jorge, Trifunov, Selena, Cuadras, Daniel, Kalko, Susana Graciela, Blázquez-Bermejo, Cora, Cámara, Yolanda, Martí, Ramón, Mavillard, Fabiola, Martín, Miguel Ángel, Montoya, Julio, Ruiz-Pesini, Eduardo, Villarroya, Joan, Montero, Raquel, Villarroya, Francesc, Artuch, Rafael, Hirano, Michio, Nascimento, Andrés, and Jiménez-Mallebrera, Cecilia

Abstract

GDF-15 is a biomarker for mitochondrial diseases. We investigated the application of GDF-15 as biomarker of disease severity and response to deoxynucleoside treatment in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21. GDF-15 and FGF-21 were measured in serum from 24 patients with TK2 deficiency treated 1–49 months with oral deoxynucleosides. Patients were grouped according to age at treatment and biomarkers were analyzed at baseline and various time points after treatment initiation. GDF-15 was elevated on average 30-fold in children and 6-fold in adults before the start of treatment. There was a significant correlation between basal GDF-15 and severity based on pretreatment distance walked (6MWT) and weight (BMI). During treatment, GDF-15 significantly declined, and the decrease was accompanied by relevant clinical improvements. The decline was greater in the paediatric group, which included the most severe patients and showed the greatest clinical benefit, than in the adult patients. The decline of FGF-21 was less prominent and consistent. GDF-15 is a potential biomarker of severity and of therapeutic response for patients with TK2 deficiency. In addition, we show evidence of clinical benefit of deoxynucleoside treatment, especially when treatment is initiated at an early age.

Published
2020

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