Search Results - Bermejo-Guerrero, Laura

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  1. 1
    Plasmapheresis in the Treatment of Refractory Myoclonic Status. A Case Report

    Plasmapheresis in the Treatment of Refractory Myoclonic Status. A Case Report by Gutierrez-Gutierrez, Judit, Muñoz-Calahorro, Reyes, Bermejo-Guerrero, Laura, Molina-Collado, Zaira, Fuente, Ignacio Saez de la, Sánchez-Izquierdo, Jose Angel

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  2. 2
    Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report

    Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report by Bermejo-Guerrero, Laura, Hernández-Voth, Ana, Serrano-Lorenzo, Pablo, Blázquez, Alberto, Martin-Jimenez, Paloma, Martin, Miguel A., Domínguez-González, Cristina

    Published in Mitochondrion
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  3. 3
    Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3

    Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3 by de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Lupo, Vincenzo, Bermejo-Guerrero, Laura, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Gallardo, Eduard, Esteban-Pérez, Jesús, Espinós, Carmen, Domínguez-González, Cristina

    Published in Journal of neurology
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  4. 4
    A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness

    A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness by Bermejo-Guerrero, Laura, Arteche-López, Ana, de Fuenmayor Fernández de la Hoz, Carlos, Hernández-Laín, Aurelio, Martín, Miguel A, Domínguez-González, Cristina

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  5. 5
    Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients

    Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients by Bermejo-Guerrero, Laura, de Fuenmayor Fernández-de la Hoz, Carlos Pablo, González-Quereda, Lidia, Segarra-Casas, Alba, Nedkova, Velina, Gallano, Pia, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Arteche-López, Ana, Domínguez-González, Cristina

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  6. 6
    Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum

    Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum by Panadés-de Oliveira, Luísa, Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Cantero Montenegro, Diana, Hernández Lain, Aurelio, Martí, Pilar, Muelas, Nuria, Vilchez, Juan J., Domínguez-González, Cristina

    Published in Journal of neurology
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  7. 7
    Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Clinical and Genetic Analysis of Patients With TK2 Deficiency by Ceballos, Francisco, Serrano-Lorenzo, Pablo, Bermejo-Guerrero, Laura, Blázquez, Alberto, Quesada-Espinosa, Juan F, Amigo, Jorge, Minguez, Pablo, Ayuso, Carmen, García-Arumí, Elena, Muelas, Nuria, Jaijo, Teresa, Nascimento, Andres, Galán-Rodriguez, Beatriz, Paradas, Carmen, Arenas, Joaquín, Carracedo, Angel, Martí, Ramon, Martín, Miguel A, Domínguez-González, Cristina

    Published in Neurology. Genetics
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  8. 8
    Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies

    Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies by Muñoz-García, Mariana I, Guerrero-Molina, María Paz, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Bermejo-Guerrero, Laura, Arteche-López, Ana, Hernández-Laín, Aurelio, Martín, Miguel A, Domínguez-González, Cristina

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  9. 9
    Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome

    Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syn... by Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero-Molina, María Paz, Martín-Jiménez, Paloma, Blázquez, Alberto, Serrano-Lorenzo, Pablo, Lora, David, Morales-Conejo, Montserrat, González-Martínez, Irene, López-Jiménez, Elena Ana, Martín, Miguel A, Domínguez-González, Cristina

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  10. 10
    Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

    Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations by Bermejo-Guerrero, Laura, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Serrano-Lorenzo, Pablo, Blázquez-Encinar, Alberto, Gutiérrez-Gutiérrez, Gerardo, Martínez-Vicente, Laura, Galán-Dávila, Lucía, García-García, Jorge, Arenas, Joaquín, Muelas, Nuria, Hernández-Laín, Aurelio, Domínguez-González, Cristina, Martín, Miguel A

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  11. 11
    Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study

    Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study by Domínguez-González, Cristina, Hernández-Voth, Ana, de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Guerrero, Laura Bermejo, Morís, Germán, García-García, Jorge, Muelas, Nuria, León Hernández, Juan Carlos, Rabasa, Maria, Lora, David, Blázquez, Alberto, Arenas, Joaquín, Martin, Miguel Ángel

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