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	21.	Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease. [electronic resource] by Alonso-Pérez, Jorge Segovia, Sonia Domínguez-González, Cristina Olivé, Montse Mendoza Grimón, María Dolores Fernández-Torrón, Roberto López de Munain, Adolfo Muñoz-Blanco, José Luis Ramos-Fransi, Alba Almendrote, Miriam Illa, Isabel Díaz-Manera, Jordi Producer: 20210129 In: Medicina clinica vol. 154 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy. [electronic resource] by Morís, Germán Wood, Libby FernáNdez-Torrón, Roberto González Coraspe, José Andrés Turner, Chris Hilton-Jones, David Norwood, Fiona Willis, Tracey Parton, Matt Rogers, Mark Hammans, Simon Roberts, Mark Househam, Elizabeth Williams, Maggie Lochmüller, Hanns Evangelista, Teresinha Producer: 20190212 In: Muscle & nerve vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis. [electronic resource] by FernÁndez-Eulate, Gorka Ruiz-Sanz, JosÉ Ignacio Riancho, Javier ZufirÍa, Monica GereÑu, Gorka FernÁndez-TorrÓn, Roberto Poza-Aldea, Juan JosÉ Ondaro, Jon Espinal, Juan Bautista GonzÁlez-ChinchÓn, Gonzalo Zulaica, Miren Ruiz-Larrea, Maria BegoÑa LÓpez De Munain, Adolfo Gil-Bea, Francisco Javier Producer: 20210609 In: Amyotrophic lateral sclerosis & frontotemporal degeneration vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	MYO-MRI diagnostic protocols in genetic myopathies. [electronic resource] by Warman Chardon, Jodi Díaz-Manera, Jordi Tasca, Giorgio Bönnemann, Carsten G Gómez-Andrés, David Heerschap, Arend Mercuri, Eugenio Muntoni, Francesco Pichiecchio, Anna Ricci, Enzo Walter, Maggie C Hanna, Michael Jungbluth, Heinz Morrow, Jasper M Fernández-Torrón, Roberto Udd, Bjarne Vissing, John Yousry, Tarek Quijano-Roy, Susana Straub, Volker Carlier, Robert Y Producer: 20200831 In: Neuromuscular disorders : NMD vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes. [electronic resource] by Díaz-Manera, Jordi Alejaldre, Aida González, Laura Olivé, Montse Gómez-Andrés, David Muelas, Nuria Vílchez, Juan José Llauger, Jaume Carbonell, Pilar Márquez-Infante, Celedonio Fernández-Torrón, Roberto Poza, Juan José López de Munáin, Adolfo González-Quereda, Lidia Mirabet, Sonia Clarimon, Jordi Gallano, Pía Rojas-García, Ricard Gallardo, Eduard Illa, Isabel Producer: 20161017 In: Neuromuscular disorders : NMD vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Limb girdle muscular dystrophy due to mutations in [electronic resource] by Østergaard, Sofie Thurø Johnson, Katherine Stojkovic, Tanya Krag, Thomas De Ridder, Willem De Jonghe, Peter Baets, Jonathan Claeys, Kristl G Fernández-Torrón, Roberto Phillips, Lauren Topf, Ana Colomer, Jaume Nafissi, Shahriar Jamal-Omidi, Shirin Bouchet-Seraphin, Celine Leturcq, France MacArthur, Daniel G Lek, Monkol Xu, Liwen Nelson, Isabelle Straub, Volker Vissing, John Producer: 20191007 In: Journal of neurology, neurosurgery, and psychiatry vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Late-onset thymidine kinase 2 deficiency: a review of 18 cases. [electronic resource] by Domínguez-González, Cristina Hernández-Laín, Aurelio Rivas, Eloy Hernández-Voth, Ana Sayas Catalán, Javier Fernández-Torrón, Roberto Fuiza-Luces, Carmen García García, Jorge Morís, Germán Olivé, Montse Miralles, Frances Díaz-Manera, Jordi Caballero, Candela Méndez-Ferrer, Bosco Martí, Ramon García Arumi, Elena Badosa, María Carmen Esteban, Jesús Jimenez-Mallebrera, Cecilia Encinar, Alberto Blazquez Arenas, Joaquín Hirano, Michio Martin, Miguel Ángel Paradas, Carmen Producer: 20191125 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. [electronic resource] by Molenaar, Joery P Verhoeven, Jamie I Rodenburg, Richard J Kamsteeg, Erik J Erasmus, Corrie E Vicart, Savine Behin, Anthony Bassez, Guillaume Magot, Armelle Péréon, Yann Brandom, Barbara W Guglielmi, Valeria Vattemi, Gaetano Chevessier, Frédéric Mathieu, Jean Franques, Jérôme Suetterlin, Karen Hanna, Michael G Guyant-Marechal, Lucie Snoeck, Marc M Roberts, Mark E Kuntzer, Thierry Fernandez-Torron, Roberto Martínez-Arroyo, Amaia Seeger, Juergen Kusters, Benno Treves, Susan van Engelen, Baziel G Eymard, Bruno Voermans, Nicol C Sternberg, Damien Producer: 20200706 In: Brain : a journal of neurology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. [electronic resource] by Johnson, Katherine Bertoli, Marta Phillips, Lauren Töpf, Ana Van den Bergh, Peter Vissing, John Witting, Nanna Nafissi, Shahriar Jamal-Omidi, Shirin Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Deconinck, Nicolas Wallgren-Pettersson, Carina Strang-Karlsson, Sonja Colomer, Jaume Claeys, Kristl G De Ridder, Willem Baets, Jonathan von der Hagen, Maja Fernández-Torrón, Roberto Zulaica Ijurco, Miren Espinal Valencia, Juan Bautista Hahn, Andreas Durmus, Hacer Willis, Tracey Xu, Liwen Valkanas, Elise Mullen, Thomas E Lek, Monkol MacArthur, Daniel G Straub, Volker Producer: 20181102 In: Skeletal muscle vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Clinical and therapeutic features of myasthenia gravis in adults based on age at onset. [electronic resource] by Cortés-Vicente, Elena Álvarez-Velasco, Rodrigo Segovia, Sonia Paradas, Carmen Casasnovas, Carlos Guerrero-Sola, Antonio Pardo, Julio Ramos-Fransi, Alba Sevilla, Teresa López de Munain, Adolfo Gómez, Maria Teresa Jericó, Ivonne Gutiérrez-Gutiérrez, Gerardo Pelayo-Negro, Ana Lara Martín, María Asunción Mendoza, María Dolores Morís, Germán Rojas-Garcia, Ricard Díaz-Manera, Jordi Querol, Luis Gallardo, Eduard Vélez, Beatriz Albertí, María Antonia Galán, Lucía García-Sobrino, Tania Martínez-Piñeiro, Alicia Lozano-Veintimilla, Ana Fernández-Torrón, Roberto Cano-Abascal, Ángel Illa, Isabel Producer: 20200721 In: Neurology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain. [electronic resource] by Sivera, Rafael Frasquet, Marina Lupo, Vincenzo García-Sobrino, Tania Blanco-Arias, Patricia Pardo, Julio Fernández-Torrón, Roberto de Munain, Adolfo López Márquez-Infante, Celedonio Villarreal, Liliana Carbonell, Pilar Rojas-García, Ricard Segovia, Sonia Illa, Isabel Frongia, Anna Lia Nascimento, Andrés Ortez, Carlos García-Romero, María Del Mar Pascual, Samuel Ignacio Pelayo-Negro, Ana Lara Berciano, José Guerrero, Antonio Casasnovas, Carlos Camacho, Ana Esteban, Jesús Chumillas, María José Barreiro, Marisa Díaz, Carmen Palau, Francesc Vílchez, Juan Jesús Espinós, Carmen Sevilla, Teresa Producer: 20190501 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain. [electronic resource] by Dols-Icardo, Oriol Nebot, Irene Gorostidi, Ana Ortega-Cubero, Sara Hernández, Isabel Rojas-García, Ricard García-Redondo, Alberto Povedano, Monica Lladó, Albert Álvarez, Victoria Sánchez-Juan, Pascual Pardo, Julio Jericó, Ivonne Vázquez-Costa, Juan Sevilla, Teresa Cardona, Fernando Indakoechea, Begoña Moreno, Fermín Fernández-Torrón, Roberto Muñoz-Llahuna, Laia Moreno-Grau, Sonia Rosende-Roca, Maiteé Vela, Álvaro Muñoz-Blanco, José Luís Combarros, Onofre Coto, Eliecer Alcolea, Daniel Fortea, Juan Lleó, Alberto Sánchez-Valle, Raquel Esteban-Pérez, Jesús Ruiz, Agustín Pastor, Pau López De Munain, Adolfo Pérez-Tur, Jordi Clarimón, Jordi Producer: 20160504 In: Brain : a journal of neurology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study. [electronic resource] by Moore, Ursula R Jacobs, Marni Fernandez-Torron, Roberto Jang, Jiji James, Meredith K Mayhew, Anna Rufibach, Laura Mittal, Plavi Eagle, Michelle Cnaan, Avital Carlier, Pierre G Blamire, Andrew Hilsden, Heather Lochmüller, Hanns Grieben, Ulrike Spuler, Simone Tesi Rocha, Carolina Day, John W Jones, Kristi J Bharucha-Goebel, Diana X Salort-Campana, Emmanuelle Harms, Matthew Pestronk, Alan Krause, Sabine Schreiber-Katz, Olivia Walter, Maggie C Paradas, Carmen Hogrel, Jean-Yves Stojkovic, Tanya Takeda, Shin'ichi Mori-Yoshimura, Madoka Bravver, Elena Sparks, Susan Diaz-Manera, Jordi Bello, Luca Semplicini, Claudio Pegoraro, Elena Mendell, Jerry R Bushby, Kate Straub, Volker Producer: 20191003 In: Journal of neurology, neurosurgery, and psychiatry vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. [electronic resource] by Gutiérrez Gutiérrez, Gerardo Díaz-Manera, Jordi Almendrote, Míriam Azriel, Sharona Eulalio Bárcena, José Cabezudo García, Pablo Camacho Salas, Ana Casanova Rodríguez, Carlos Cobo, Ana María Díaz Guardiola, Patricia Fernández-Torrón, Roberto Gallano Petit, María Pía García Pavía, Pablo Gómez Gallego, María Gutiérrez Martínez, Antonio José Jericó, Ivonne Kapetanovic García, Solange López de Munaín Arregui, Adolfo Martorell, Loreto Morís de la Tassa, Germán Moreno Zabaleta, Raúl Muñoz-Blanco, José Luis Olivar Roldán, Juana Pascual Pascual, Samuel Ignacio Peinado Peinado, Rafael Pérez, Helena Poza Aldea, Juan José Rabasa, María Ramos, Alba Rosado Bartolomé, Alfredo Rubio Pérez, Miguel Ángel Urtizberea, Jon Andoni Zapata-Wainberg, Gustavo Gutiérrez-Rivas, Eduardo Producer: 20200903 In: Medicina clinica vol. 153 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT. [electronic resource] by 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 Díaz-Manera, Jordi Producer: 20200430 In: Molecular genetics and metabolism vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. [electronic resource] by Alonso-Jimenez, Alicia Kroon, Rosemarie H M J M Alejaldre-Monforte, Aida Nuñez-Peralta, Claudia Horlings, Corinne G C van Engelen, Baziel G M Olivé, Montse González, Laura Verges-Gil, Enric Paradas, Carmen Márquez, Celedonio Garibaldi, Matteo Gallano, Pía Rodriguez, Maria José Gonzalez-Quereda, Lidia Dominguez Gonzalez, Cristina Vissing, John Fornander, Freja Eisum, Anne-Sofie Vibæk García-Sobrino, Tania Pardo, Julio García-Figueiras, Roberto Muelas, Nuria Vilchez, Juan Jesús Kapetanovic, Solange Tasca, Giorgio Monforte, Mauro Ricci, Enzo Gomez, María Teresa Bevilacqua, Jorge Alfredo Diaz-Jara, Jorge Zamorano, Ivonne Ingrid Carlier, Robert Yves Laforet, Pascal Pelayo-Negro, Ana Ramos-Fransi, Alba Martínez, Amaia Marini-Bettolo, Chiara Straub, Volker Gutiérrez, Gerardo Stojkovic, Tanya Martín, María Asunción Morís, Germán Fernández-Torrón, Roberto Lopez De Munaín, Adolfo Cortes-Vicente, Elena Querol, Luis Rojas-García, Ricardo Illa, Isabel Diaz-Manera, Jordi Producer: 20200319 In: Journal of neurology, neurosurgery, and psychiatry vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. [electronic resource] by García-Redondo, Alberto Dols-Icardo, Oriol Rojas-García, Ricard Esteban-Pérez, Jesús Cordero-Vázquez, Pilar Muñoz-Blanco, José Luis Catalina, Irene González-Muñoz, Miguel Varona, Luis Sarasola, Esther Povedano, Monica Sevilla, Teresa Guerrero, Antonio Pardo, Julio López de Munain, Adolfo Márquez-Infante, Celedonio de Rivera, Francisco Javier Rodríguez Pastor, Pau Jericó, Ivonne de Arcaya, Amaya Álvarez Mora, Jesús S Clarimón, Jordi Gonzalo-Martínez, Juan Francisco Juárez-Rufián, Alexandra Atencia, Gabriela Jiménez-Bautista, Rosario Morán, Yolanda Mascías, Javier Hernández-Barral, María Kapetanovic, Solange García-Barcina, María Alcalá, Carmen Vela, Alvaro Ramírez-Ramos, Concepción Galán, Lucía Pérez-Tur, Jordi Quintáns, Beatriz Sobrido, M Jesús Fernández-Torrón, Roberto Poza, Juan José Gorostidi, Ana Paradas, Carmen Villoslada, Pablo Larrodé, Pilar Capablo, José Luis Pascual-Calvet, Jordi Goñi, Miguel Morgado, Yolanda Guitart, Miriam Moreno-Laguna, Sira Rueda, Almudena Martín-Estefanía, Carlos Cemillán, Carlos Blesa, Rafael Lleó, Alberto Producer: 20130701 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. [electronic resource] by Diaz-Manera, Jordi Fernandez-Torron, Roberto LLauger, Jaume James, Meredith K Mayhew, Anna Smith, Fiona E Moore, Ursula R Blamire, Andrew M Carlier, Pierre G Rufibach, Laura Mittal, Plavi Eagle, Michelle Jacobs, Marni Hodgson, Tim Wallace, Dorothy Ward, Louise Smith, Mark Stramare, Roberto Rampado, Alessandro Sato, Noriko Tamaru, Takeshi Harwick, Bruce Rico Gala, Susana Turk, Suna Coppenrath, Eva M Foster, Glenn Bendahan, David Le Fur, Yann Fricke, Stanley T Otero, Hansel Foster, Sheryl L Peduto, Anthony Sawyer, Anne Marie Hilsden, Heather Lochmuller, Hanns Grieben, Ulrike Spuler, Simone Tesi Rocha, Carolina Day, John W Jones, Kristi J Bharucha-Goebel, Diana X Salort-Campana, Emmanuelle Harms, Matthew Pestronk, Alan Krause, Sabine Schreiber-Katz, Olivia Walter, Maggie C Paradas, Carmen Hogrel, Jean-Yves Stojkovic, Tanya Takeda, Shin'ichi Mori-Yoshimura, Madoka Bravver, Elena Sparks, Susan Bello, Luca Semplicini, Claudio Pegoraro, Elena Mendell, Jerry R Bushby, Kate Straub, Volker Producer: 20191002 In: Journal of neurology, neurosurgery, and psychiatry vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Assessment of disease progression in dysferlinopathy: A 1-year cohort study. [electronic resource] by Moore, Ursula Jacobs, Marni James, Meredith K Mayhew, Anna G Fernandez-Torron, Roberto Feng, Jia Cnaan, Avital Eagle, Michelle Bettinson, Karen Rufibach, Laura E Lofra, Robert Muni Blamire, Andrew M Carlier, Pierre G Mittal, Plavi Lowes, Linda Pax Alfano, Lindsay Rose, Kristy Duong, Tina Berry, Katherine M Montiel-Morillo, Elena Pedrosa-Hernández, Irene Holsten, Scott Sanjak, Mohammed Ashida, Ai Sakamoto, Chikako Tateishi, Takayuki Yajima, Hiroyuki Canal, Aurélie Ollivier, Gwenn Decostre, Valerie Mendez, Juan Bosco Sánchez-Aguilera Praxedes, Nieves Thiele, Simone Siener, Catherine Shierbecker, Jeanine Florence, Julaine M Vandevelde, Bruno DeWolf, Brittney Hutchence, Meghan Gee, Richard Prügel, Juliana Maron, Elke Hilsden, Heather Lochmüller, Hanns Grieben, Ulrike Spuler, Simone Tesi Rocha, Carolina Day, John W Jones, Kristi J Bharucha-Goebel, Diana X Salort-Campana, Emmanuelle Harms, Matthew Pestronk, Alan Krause, Sabine Schreiber-Katz, Olivia Walter, Maggie C Paradas, Carmen Hogrel, Jean-Yves Stojkovic, Tanya Takeda, Shin'ichi Mori-Yoshimura, Madoka Bravver, Elena Sparks, Susan Díaz-Manera, Jordi Bello, Luca Semplicini, Claudio Pegoraro, Elena Mendell, Jerry R Bushby, Kate Straub, Volker Publication details: Neurology Jan 2019 In: Neurology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)