Search Results - "Serrano Munuera, Carmen"

Gentamicin-induced readthrough of stop codons in duchenne muscular dystrophy by Malik, Vinod, Rodino-Klapac, Louise R., Viollet, Laurence, Wall, Cheryl, King, Wendy, Al-Dahhak, Roula, Lewis, Sarah, Shilling, Christopher J., Kota, Janaiah, Serrano-Munuera, Carmen, Hayes, John, Mahan, John D., Campbell, Katherine J., Banwell, Brenda, Dasouki, Majed, Watts, Victoria, Sivakumar, Kumaraswamy, Bien-Willner, Ricardo, Flanigan, Kevin M., Sahenk, Zarife, Barohn, Richard J., Walker, Christopher M., Mendell, Jerry R.

“…Objective The objective of this study was to establish the feasibility of long‐term gentamicin dosing to achieve stop codon readthrough and produce full‐length…”
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Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37 by Corral-Juan, Marc, Serrano-Munuera, Carmen, Rábano, Alberto, Cota-González, Daniel, Segarra-Roca, Anna, Ispierto, Lourdes, Cano-Orgaz, Antonio Tomás, Adarmes, Astrid D, Méndez-del-Barrio, Carlota, Jesús, Silvia, Mir, Pablo, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni

“…Spinocerebellar ataxia type 37 is an adult-onset dominant ataxia characterised by altered vertical eye movements. Corral-Juan et al. demonstrate that an ATTTC…”
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New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32 by Serrano-Munuera, Carmen, Corral-Juan, Marc, Stevanin, Giovanni, San Nicolás, Hector, Roig, Carles, Corral, Jordi, Campos, Berta, de Jorge, Laura, Morcillo-Suárez, Carlos, Navarro, Arcadi, Forlani, Sylvie, Durr, Alexandra, Kulisevsky, Jaime, Brice, Alexis, Sánchez, Ivelisse, Volpini, Victor, Matilla-Dueñas, Antoni

“…To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar…”
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Migraine with aura related to the percutaneous closure of an atrial septal defect by Rodés-Cabau, Josep, Molina, Carlos, Serrano-Munuera, Carmen, Casaldáliga, Jaume, Alvarez-Sabin, José, Evangelista, Arturo, Soler-Soler, Jordi

“…We report a case of a 31‐year‐old woman who presented migraine attacks with aura within the 48 hr after transcatheter closure of an atrial septal defect with…”
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Neuromuscular dysfunction in adult growth hormone deficiency by Webb, Susan M., De Andrés-Aguayo, Irene, Rojas-García, Ricard, Ortega, Emilio, Gallardo, Eduard, Mestrón, Antonio, Serrano-Munuera, Carmen, Casamitjana, Roser, Illa, Isabel

“…Summary background  Adult growth hormone deficiency (AGHD) is associated with fatigue, tiredness and myalgias, which improve after initiating recombinant human…”
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Response to Comment on “Is conventional brain MRI useful for the diagnosis of cluste headache in patients who meet ICHD-3 criteria? Experience in three hospitals in Spain” by Pérez-Pereda, Sara, Madera, Jorge, Munuera, Carmen Serrano, Recio, María Fernández, Pascual, Julio

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Evidence for impaired axonal regeneration in PMP22 duplication: studies in nerve xenografts by Sahenk, Zarife, Serrano-Munuera, Carmen, Chen, Lei, Kakabadze, Inga, Najagara, Haikady N.

“…Whether axonal regeneration in Charcot‐Marie‐Tooth (CMT) neuropathies is impaired has not been addressed in detail. Our studies in nude mice harboring…”
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Is conventional brain MRI useful for the diagnosis of cluster headache in patients who meet ICHD-3 criteria? Experience in three hospitals in Spain by Pérez-Pereda, Sara, Madera, Jorge, González-Quintanilla, Vicente, Drake-Pérez, Marta, Marzal Espí, Clara Naima, Serrano Munuera, Carmen, García, Silvia Cusó, Aguilella Linares, Clara, Fernández Recio, María, Velamazán Delgado, Gabriel, Pascual, Julio

“…To assess the frequency of symptomatic structural lesions and the diagnostic yield of conventional brain MRI in cluster headache (CH). In contrast to migraine,…”
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Rare Neurodegenerative Diseases: Clinical and Genetic Update by Matilla-Dueñas, Antoni, Corral-Juan, Marc, Rodríguez-Palmero Seuma, Agustí, Vilas, Dolores, Ispierto, Lourdes, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel, Volpini, Víctor, Serrano-Munuera, Carmen, Pintos-Morell, Guillem, Álvarez, Ramiro, Sánchez, Ivelisse

“…More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood,…”
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The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome by Vidal, S., Brandi, N., Pacheco, P., Maynou, J., Fernandez, G., Xiol, C., Pascual-Alonso, A., Pineda, M., Maria del Mar, O'Callaghan, Garcia-Cazorla, Àngels, del Carmen Serrano Munuera, Maria, García, Silvia Cuso, Troncoso, Monica, Fariña, Guillermo, García Peñas, Juan José, Fournier, Belen Gil, León, Soraya Ramiro, Guitart, Miriam, Baena, Neus, de Nanclares, Guiomar Perez, Oci, Intzane Ocio, Gutiérrez-Delicado, Eva, Abarrategui, Belén, Barroso, Eva, Santos-Simarro, Fernando, Lapunzina, Pablo, García, Francisco J., Acedo, Juan M., García, Asunción, Martinez, Miguel A., Martínez-Bermejo, Antonio, Armstrong, J.

“…Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that is caused by mutations in the MECP2 gene; however, defects in other genes (CDKL5 and…”
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Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials by Saute, Jonas Alex Morales, Donis, Karina Carvalho, Serrano-Munuera, Carmen, Genis, David, Ramirez, Luís Torres, Mazzetti, Pilar, Pérez, Luis Velázquez, Latorre, Pilar, Sequeiros, Jorge, Matilla-Dueñas, Antoni, Jardim, Laura Bannach

“…We aimed to perform a comprehensive systematic review of the existing ataxia scales. We described the disorders for which the instruments have been validated…”
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