Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
Iruzubieta, Pablo, Pellerin, David, Bergareche, Alberto, Albajar, Inés, Mondragón, Elisabet, Vinagre, Ana, Fernández‐Torrón, Roberto, Moreno, Fermín, Equiza, Jon, Campo‐Caballero, David, Poza, Juan José, Ruibal, Marta, Formica, Alessandro, Dicaire, Marie‐Josée, Danzi, Matt C., Zuchner, Stephan, Croitoru, Ioana, Ruiz, Montserrat, Schlüter, Agatha, Casasnovas, Carlos, Pujol, Aurora, Brais, Bernard, Houlden, Henry, López de Munain, Adolfo, Ruiz‐Martínez, Javier
Published in European journal of neurology (01.12.2023)
Published in European journal of neurology (01.12.2023)
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MYO-MRI diagnostic protocols in genetic myopathies
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
Published in Neuromuscular disorders : NMD (01.11.2019)
Published in Neuromuscular disorders : NMD (01.11.2019)
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Three‐year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
Reyngoudt, Harmen, Smith, Fiona E., Caldas de Almeida Araújo, Ericky, Wilson, Ian, Fernández‐Torrón, Roberto, James, Meredith K., Moore, Ursula R., Díaz‐Manera, Jordi, Marty, Benjamin, Azzabou, Noura, Gordish, Heather, Rufibach, Laura, Hodgson, Tim, Wallace, Dorothy, Ward, Louise, Boisserie, Jean‐Marc, Le Louër, Julien, Hilsden, Heather, Sutherland, Helen, Canal, Aurélie, Hogrel, Jean‐Yves, Jacobs, Marni, Stojkovic, Tanya, Bushby, Kate, Mayhew, Anna, Straub, Volker, Carlier, Pierre G., Blamire, Andrew M.
Published in Journal of cachexia, sarcopenia and muscle (01.06.2022)
Published in Journal of cachexia, sarcopenia and muscle (01.06.2022)
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Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation
Fernández-Torrón, Roberto, García-Puga, Mikel, Emparanza, José-Ignacio, Maneiro, Miren, Cobo, Ana-María, Poza, Juan-José, Espinal, Juan-Bautista, Zulaica, Miren, Ruiz, Irune, Martorell, Loreto, Otaegui, David, Matheu, Ander, López de Munain, Adolfo
Published in Neurology (20.09.2016)
Published in Neurology (20.09.2016)
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Journal Article
Rapidly Reversible Winging Scapula
Fernández‐Torrón, Roberto, López de Munain, Adolfo, Camaño, Pilar, García‐Bragado, Federico
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2015)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2015)
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Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study
Wang, Youjin, Best, Ana, Fernández‐Torrón, Roberto, Alsaggaf, Rotana, Garcia‐Puga, Mikel, Dagnall, Casey L., Hicks, Belynda, Thompson, Mone’t, Matheu Fernandez, Ander, Zulaica Ijurco, Miren, Greene, Mark H., Lopez de Munain, Adolfo, Gadalla, Shahinaz M.
Published in Annals of clinical and translational neurology (01.01.2020)
Published in Annals of clinical and translational neurology (01.01.2020)
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Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
Verdú-Díaz, José, Alonso-Pérez, Jorge, Nuñez-Peralta, Claudia, Tasca, Giorgio, Vissing, John, Straub, Volker, Fernández-Torrón, Roberto, Llauger, Jaume, Illa, Isabel, Díaz-Manera, Jordi
Published in Neurology (10.03.2020)
Published in Neurology (10.03.2020)
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Journal Article
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
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, Paradas, Carmen
Published in Journal of neurology (01.07.2022)
Published in Journal of neurology (01.07.2022)
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A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis
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
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.04.2020)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.04.2020)
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Muscle wasting in myotonic dystrophies: a model of premature aging
Mateos-Aierdi, Alba Judith, Goicoechea, Maria, Aiastui, Ana, Fernández-Torrón, Roberto, Garcia-Puga, Mikel, Matheu, Ander, López de Munain, Adolfo
Published in Frontiers in aging neuroscience (09.07.2015)
Published in Frontiers in aging neuroscience (09.07.2015)
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Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle
Toral-Ojeda, Ivan, Aldanondo, Garazi, Lasa-Elgarresta, Jaione, Lasa-Fernández, Haizpea, Fernández-Torrón, Roberto, López de Munain, Adolfo, Vallejo-Illarramendi, Ainara
Published in Expert reviews in molecular medicine (08.04.2016)
Published in Expert reviews in molecular medicine (08.04.2016)
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Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
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
Published in Neuromuscular disorders : NMD (01.01.2016)
Published in Neuromuscular disorders : NMD (01.01.2016)
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Senescence plays a role in myotonic dystrophy type 1
García-Puga, Mikel, Saenz-Antoñanzas, Ander, Gerenu, Gorka, Arrieta-Legorburu, Alex, Fernández-Torrón, Roberto, Zulaica, Miren, Saenz, Amets, Elizazu, Joseba, Nogales-Gadea, Gisela, Gadalla, Shahinaz M., Araúzo-Bravo, Marcos J., López de Munain, Adolfo, Matheu, Ander
Published in JCI insight (10.10.2022)
Published in JCI insight (10.10.2022)
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ALS: A bucket of genes, environment, metabolism and unknown ingredients
Zufiría, Mónica, Gil-Bea, Francisco Javier, Fernández-Torrón, Roberto, Poza, Juan José, Muñoz-Blanco, Jose Luis, Rojas-García, Ricard, Riancho, Javier, López de Munain, Adolfo
Published in Progress in neurobiology (01.07.2016)
Published in Progress in neurobiology (01.07.2016)
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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
Iruzubieta, Pablo, Damborenea, Alberto, Ioghen, Mihaela, Bajew, Simon, Fernandez-Torrón, Roberto, Töpf, Ana, Herrero-Reiriz, Álvaro, Epure, Diana, Vill, Katharina, Hernández-Laín, Aurelio, Manterola, María, Azkargorta, Mikel, Pikatza-Menoio, Oihane, Pérez-Fernandez, Laura, García-Puga, Mikel, Gaina, Gisela, Bastian, Alexandra, Streata, Ioana, Walter, Maggie C, Müller-Felber, Wolfgang, Thiele, Simone, Moragón, Saioa, Bastida-Lertxundi, Nerea, López-Cortajarena, Aitziber, Elortza, Felix, Gereñu, Gorka, Alonso-Martin, Sonia, Straub, Volker, de Sancho, David, Teleanu, Raluca, López de Munain, Adolfo, Blázquez, Lorea
Published in Brain (London, England : 1878) (01.08.2024)
Published in Brain (London, England : 1878) (01.08.2024)
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Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy
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
Published in Muscle & nerve (01.03.2018)
Published in Muscle & nerve (01.03.2018)
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Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome
Albajar, Ines, Iruzubieta, Pablo, Barandiaran, Myriam, Alves, Patricia, Pujol, Aurora, Verdura, Edgard, Equiza, Jon, Urreta, Iratxe, Ruiz‐Martínez, Javier, Maneiro, Miren, Fernandez‐Torron, Roberto, Poza, Juan Jose, Mondragón, Elisabet, Munain, Adolfo Lopez
Published in Movement disorders (01.07.2024)
Published in Movement disorders (01.07.2024)
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Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
Moore, Ursula, Fernandez‐Torron, Roberto, Jacobs, Marni, Gordish‐Dressman, Heather, Diaz‐Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha‐Goebel, Diana X., Salort‐Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori‐Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker
Published in Muscle & nerve (01.05.2022)
Published in Muscle & nerve (01.05.2022)
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