Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series
Sivera, Rafael, Sevilla, Teresa, Vílchez, Juan Jesús, Martínez-Rubio, Dolores, Chumillas, María José, Vázquez, Juan Francisco, Muelas, Nuria, Bataller, Luis, Millán, José María, Palau, Fancesc, Espinós, Carmen
Published in Neurology (29.10.2013)
Published in Neurology (29.10.2013)
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Journal Article
ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism
Rubio-Solsona, Estrella, Martí, Salvador, Vílchez, Juan J, Palau, Francesc, Hoenicka, Janet
Published in PloS one (14.05.2018)
Published in PloS one (14.05.2018)
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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
KORNAK, Uwe, MADEMAN, Inès, POU-SERRADELL, Adolf, VILCHEZ, Juan J, BEETZ, Christian, DECONINCK, Tine, TIMMERMAN, Vincent, KAETHER, Christoph, DE JONGHE, Peter, HÜBNER, Christian A, GAL, Andreas, AMLING, Michael, SCHINKE, Marte, MUNDLOS, Stefan, BAETS, Jonathan, KURTH, Ingo, VOIGT, Martin, KRAWITZ, Peter, HECHT, Jochen, BARVENCIK, Florian, SCHINKE, Thorsten, GIESSELMANN, Sebastian, TIMO BEIL, F
Published in Brain (London, England : 1878) (01.03.2014)
Published in Brain (London, England : 1878) (01.03.2014)
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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
Sevilla, Teresa, Lupo, Vincenzo, Martínez-Rubio, Dolores, Sancho, Paula, Sivera, Rafael, Chumillas, María J, García-Romero, Mar, Pascual-Pascual, Samuel I, Muelas, Nuria, Dopazo, Joaquín, Vílchez, Juan J, Palau, Francesc, Espinós, Carmen
Published in Brain (London, England : 1878) (01.01.2016)
Published in Brain (London, England : 1878) (01.01.2016)
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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano, Macarena, Mavillard, Fabiola, Biancalana, Valerie, Rivas, Eloy, Morar, Bharti, Hernández-Laín, Aurelio, Olive, Montse, Muelas, Nuria, Khan, Eduardo, Carvajal, Alejandra, Quiroga, Pablo, Diaz-Manera, Jordi, Davis, Mark, Ávila, Rainiero, Domínguez, Cristina, Romero, Norma Beatriz, Vílchez, Juan J, Comas, David, Laing, Nigel G, Laporte, Jocelyn, Kalaydjieva, Luba, Paradas, Carmen
Published in Neurology (24.07.2018)
Published in Neurology (24.07.2018)
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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
Alonso-Pérez, Jorge, González-Quereda, Lidia, Bruno, Claudio, Panicucci, Chiara, Alavi, Afagh, Nafissi, Shahriar, Nilipour, Yalda, Zanoteli, Edmar, Isihi, Lucas Michielon de Augusto, Melegh, Béla, Hadzsiev, Kinga, Muelas, Nuria, Vílchez, Juan J, Dourado, Mario Emilio, Kadem, Naz, Kutluk, Gultekin, Umair, Muhammad, Younus, Muhammad, Pegorano, Elena, Bello, Luca, Crawford, Thomas O, Suárez-Calvet, Xavier, Töpf, Ana, Guglieri, Michela, Marini-Bettolo, Chiara, Gallano, Pia, Straub, Volker, Díaz-Manera, Jordi
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
MELIA, Maria J, KUBOTA, Akatsuki, GARCIA-ARUMI, Elena, ANDREU, Antoni L, NAVARRO, Carmen, HIRANO, Michio, MARTI, Ramon, ORTOLANO, Saida, VILCHEZ, Juan J, GAMEZ, Josep, TANJ I, Kurenai, BONILLA, Eduardo, PALENZUELA, Lluís, FERNANDEZ-CADENAS, Israel, PRISTOUPILOVA, Anna
Published in Brain (London, England : 1878) (01.05.2013)
Published in Brain (London, England : 1878) (01.05.2013)
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Insights into phenotypic variability caused by GARS1 pathogenic variants
Jiménez‐Jiménez, Jesús, Navarrete, Irene, Azorín, Inmaculada, Martí, Pilar, Vílchez, Roger, Muelas, Nuria, Cabello‐Murgui, Javier, Millet, Elvira, Vázquez‐Costa, Juan Francisco, Vílchez, Juan J., Sevilla, Teresa, Sivera, Rafael
Published in European journal of neurology (01.10.2024)
Published in European journal of neurology (01.10.2024)
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Refining Stroke and Bleeding Prediction in Atrial Fibrillation by Adding Consecutive Biomarkers to Clinical Risk Scores
Rivera-Caravaca, José Miguel, Marín, Francisco, Vilchez, Juan Antonio, Gálvez, Josefa, Esteve-Pastor, María Asunción, Vicente, Vicente, Lip, Gregory Y.H, Roldán, Vanessa
Published in Stroke (1970) (01.06.2019)
Published in Stroke (1970) (01.06.2019)
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Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations
Baviera-Muñoz, Raquel, Campins-Romeu, Marina, Carretero-Vilarroig, Lidón, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Vázquez-Costa, Juan F., Muelas, Nuria, Sevilla, Teresa, Vílchez, Juan J., Aller, Elena, Jaijo, Teresa, Bataller, Luis, Espinós, Carmen
Published in Journal of the neurological sciences (15.10.2021)
Published in Journal of the neurological sciences (15.10.2021)
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Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis
Torres-Vega, Estefanía, Mancheño, Nuria, Cebrián-Silla, Arantxa, Herranz-Pérez, Vicente, Chumillas, María J, Moris, Germán, Joubert, Bastien, Honnorat, Jérôme, Sevilla, Teresa, Vílchez, Juan J, Dalmau, Josep, Graus, Francesc, García-Verdugo, José Manuel, Bataller, Luis
Published in Neurology (28.03.2017)
Published in Neurology (28.03.2017)
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ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease
Cabello-Murgui, Javier, Jiménez-Jiménez, Jesús, Vílchez, Juan J, Azorín, Inmaculada, Martí-Martínez, Pilar, Millet, Elvira, Lupo, Vincenzo, Sevilla, Teresa, Sivera, Rafael
Published in European journal of neurology (17.09.2024)
Published in European journal of neurology (17.09.2024)
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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
Rodríguez-López, Claudia, García-Cárdaba, Luis M., Blázquez, Alberto, Serrano-Lorenzo, Pablo, Gutiérrez-Gutiérrez, Gerardo, San Millán-Tejado, Beatriz, Muelas, Nuria, Hernández-Laín, Aurelio, Vílchez, Juan J., Gutiérrez-Rivas, Eduardo, Arenas, Joaquín, Martín, Miguel A., Domínguez-González, Cristina
Published in Journal of medical genetics (01.09.2020)
Published in Journal of medical genetics (01.09.2020)
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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
Poyatos‐García, Javier, Martí, Pilar, Liquori, Alessandro, Muelas, Nuria, Pitarch, Inmaculada, Martinez‐Dolz, Luis, Rodríguez, Benjamin, Gonzalez‐Quereda, Lidia, Damiá, Maria, Aller, Elena, Selva‐Gimenez, Marta, Vilchez, Roger, Diaz‐Manera, Jordi, Alonso‐Pérez, Jorge, Barcena, José Eulalio, Jauregui, Amaia, Gámez, Josep, Aladrén, Jesus Angel, Fernández, Ariadna, Montolio, Marisol, Azorin, Inmaculada, Hervas, David, Casasús, Ana, Nieto, Marisa, Gallano, Pia, Sevilla, Teresa, Vilchez, Juan Jesus
Published in Annals of neurology (01.11.2022)
Published in Annals of neurology (01.11.2022)
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Journal Article
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Poyatos-García, Javier, Soblechero-Martín, Patricia, Liquori, Alessandro, López-Martínez, Andrea, Maestre, Pilar, González-Romero, Elisa, Vázquez-Manrique, Rafael P, Muelas, Nuria, García-García, Gema, Ohana, Jessica, Arechavala-Gomeza, Virginia, Vílchez, Juan J
Published in Skeletal muscle (01.10.2024)
Published in Skeletal muscle (01.10.2024)
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Dysfunction of histone demethylase IBM1 in Arabidopsis causes autoimmunity and reshapes the root microbiome
Lv, Suhui, Yang, Yu, Yu, Gang, Peng, Li, Zheng, Shuai, Singh, Sunil Kumar, Vílchez, Juan Ignacio, Kaushal, Richa, Zi, Hailing, Yi, Dian, Wang, Yuhua, Luo, Shaofan, Wu, Xiaoxuan, Zuo, Ziwei, Huang, Weichang, Liu, Renyi, Du, Jiamu, Macho, Alberto P., Tang, Kai, Zhang, Huiming
Published in The ISME Journal (01.11.2022)
Published in The ISME Journal (01.11.2022)
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Musashi-2 contributes to myotonic dystrophy muscle dysfunction by promoting excessive autophagy through miR-7 biogenesis repression
Sabater-Arcis, Maria, Bargiela, Ariadna, Moreno, Nerea, Poyatos-Garcia, Javier, Vilchez, Juan J., Artero, Ruben
Published in Molecular therapy. Nucleic acids (03.09.2021)
Published in Molecular therapy. Nucleic acids (03.09.2021)
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