Characterizing SOD1 mutations in Spain: The impact of genotype, age and sex in the natural history of the disease

Authors: Vázquez‐Costa, Juan F., Borrego‐Hernández, Daniel, Paradas, Carmen, Gómez‐Caravaca, María Teresa, Rojas‐Garcia, Ricardo, Varona, Luis, Povedano, Mónica, García‐Sobrino, Tania, Jericó Pascual, Ivonne, Gutiérrez, Antonio, Riancho, Javier, Turon‐Sans, Janina, Assialioui, Abdelilah, Pérez‐Tur, Jordi, Sevilla, Teresa, Esteban Pérez, Jesús, García‐Redondo, Alberto, López, Alberto Andrés, Calabria, M. Dolores, Díaz‐Marín, Carmen, Caravaca, Eva Fages, Dávila, Lucía Galán, Martínez, Alberto García, Gimenez‐Muñoz, Álvaro, Sola, Antonio Guerrero, Cadavid, Javier Mascías, Mora Pardina, Jesús S., Blanco, José Luis Muñoz, Juntas‐Morales, Raúl, Morgado, Yolanda, Pardo, Julio, Valladares, Amador, Vilar‐Ventura, Rosa Maria

Source: European journal of neurology. 30(4):861-871

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182000623.0x000001&indx=1&recIds=ETOCvdc_100182000623.0x000001

Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

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

Source: European journal of neurology. 28(9):3001-3011

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127421509.0x000001&indx=1&recIds=ETOCvdc_100127421509.0x000001

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Authors: McEachin, Zachary T., Gendron, Tania F., Raj, Nisha, García-Murias, María, Banerjee, Anwesha, Purcell, Ryan H., Ward, Patricia J., Todd, Tiffany W., Merritt-Garza, Megan E., Jansen-West, Karen, Hales, Chadwick M., García-Sobrino, Tania, Quintáns, Beatriz, Holler, Christopher J., Taylor, Georgia, San Millán, Beatriz, Teijeira, Susana, Yamashita, Toru, Ohkubo, Ryuichi, Boulis, Nicholas M., Xu, Chongchong, Wen, Zhexing, Streichenberger, Nathalie, Fogel, Brent L., Kukar, Thomas, Abe, Koji, Dickson, Dennis W., Arias, Manuel, Glass, Jonathan D., Jiang, Jie, Tansey, Malú G., Sobrido, María-Jesús, Petrucelli, Leonard, Rossoll, Wilfried, Bassell, Gary J.

Source: In Neuron 22 July 2020 107(2):292-305

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

Authors: García-Sobrino, Tania ^*, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, San Millán, Beatriz, Arias, Manuel, Sobrido, María-Jesús ^*, Pardo, Julio

Source: In Neuromuscular Disorders July 2017 27(7):667-672

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Authors: Sivera, Rafael, Frasquet, Marina, Lupo, Vincenzo, García-Sobrino, Tania, Blanco-Arias, Patricia, Pardo, Julio, Fernández-Torrón, Roberto, Munain, Adolfo, Márquez-Infante, Celedonio, Villarreal, Liliana, Carbonell, Pilar, Rojas-García, Ricard, Segovia, Sonia, Illa, Isabel, Frongia, Anna, Nascimento, Andrés, Ortez, Carlos, García-Romero, María, Pascual, Samuel, Pelayo-Negro, Ana, Berciano, José, Guerrero, Antonio, Casasnovas, Carlos, Camacho, Ana, Esteban, Jesús, Chumillas, María, Barreiro, Marisa, Díaz, Carmen, Palau, Francesc, Vílchez, Juan, Espinós, Carmen, Sevilla, Teresa

Source: Scientific reports. 7(1):1-10

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100174185796.0x000001&indx=1&recIds=ETOCvdc_100174185796.0x000001

Autoantibody screening in Guillain-Barré syndrome.

Authors: Lleixà, Cinta, Martín-Aguilar, Lorena, Pascual-Goñi, Elba, Franco, Teresa, Caballero, Marta, de Luna, Noemí, Gallardo, Eduard, Suárez-Calvet, Xavier, Martínez-Martínez, Laura, Diaz-Manera, Jordi, Rojas-García, Ricard, Cortés-Vicente, Elena, Turón, Joana, Casasnovas, Carlos, Homedes, Christian, Gutiérrez-Gutiérrez, Gerardo, Jimeno-Montero, María Concepción, Berciano, José, Sedano-Tous, Maria José, García-Sobrino, Tania

Source: Journal of Neuroinflammation; 11/1/2021, Vol. 18 Issue 1, p1-13, 13p

Subject Terms: AUTOANTIBODIES, GUILLAIN-Barre syndrome, NEURONS, DORSAL root ganglia, PROGNOSIS, NEUROBLASTOMA

Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.

Authors: Martín-Aguilar, Lorena, Camps-Renom, Pol, Lleixà, Cinta, Pascual-Goñi, Elba, Díaz-Manera, Jordi, Rojas-García, Ricardo, De Luna, Noemi, Gallardo, Eduard, Cortés-Vicente, Elena, Muñoz, Laia, Alcolea, Daniel, Lleó, Alberto, Casasnovas, Carlos, Homedes, Christian, Gutiérrez-Gutiérrez, Gerardo, Concepción Jimeno-Montero, María, Berciano, José, José Sedano-Tous, María, García-Sobrino, Tania, Pardo-Fernández, Julio

Source: Journal of Neurology, Neurosurgery & Psychiatry; Jan2021, Vol. 92 Issue 1, p70-77, 8p

Subject Terms: POLYNEUROPATHIES, GUILLAIN-Barre syndrome, CYTOPLASMIC filaments, FORECASTING, INSTITUTIONAL review boards, PROGNOSIS

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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Authors: 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, Gonzalez, Cristina Dominguez, Vissing, John, Fornander, Freja, Eisum, Anne-Sofie Vibæk, García-Sobrino, Tania

Source: Journal of Neurology, Neurosurgery & Psychiatry; May2019, Vol. 90 Issue 5, p576-585, 10p, 6 Diagrams, 1 Chart, 2 Graphs

Subject Terms: FACIOSCAPULOHUMERAL muscular dystrophy, MUSCULAR dystrophy, MUSCLES, PHARYNGEAL muscles, GLUTEAL muscles, BICEPS femoris

Gastrointestinal symptoms in late-onset Pompe disease: Early response to enzyme replacement therapy

Authors: Pardo, Julio, García-Sobrino, Tania, López-Ferreiro, Ana

Source: In Journal of the Neurological Sciences 15 June 2015 353(1-2):181-182

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