Navegar por autor "Navarro Fernández-Balbuena, Carmen"

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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

2011- Navarro Fernández-Balbuena, Carmen
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

2020- Pinós, T.; Andreu, A. L.; Bruno, C.; Hadjigeorgiou, G. M.; Haller, R. G.; [et al.]
EUROMAC: Disease registry for McArdle disease and other pure muscle glycogenolytic disorders presenting with exercise intolerance

2014- Navarro Fernández-Balbuena, Carmen
Goodpasture Antigen-binding Protein (GPBP) directs myofibril formation: Identification of intracellular downstream effector 130-kDa GPBP-interacting protein (GIP130)

2011- Navarro Fernández-Balbuena, Carmen
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

2012- San Millan Tejado, Beatriz; Navarro Fernández-Balbuena, Carmen
Lafora progressive myoclonus epilepsy: recent insights into cell degeneration

2012- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Spuch Calvar, Carlos
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

2013- Melia, Maria J.; Kubota, Akatsuki; Ortolano, Saida; Vilchez, Juan J.; Gamez, Josep; [et al.]
Liposomes for Targeted Delivery of Active Agents against Neurodegenerative Diseases (Alzheimer's Disease and Parkinson's Disease)

2011- Navarro Fernández-Balbuena, Carmen; Spuch Calvar, Carlos
Miopatía por deficiencia de mioadenilato desaminasa desencadenada por el tratamiento con atorvastatina

2013- San Millan Tejado, Beatriz; García Estévez, Daniel Apolinar; Navarro Fernández-Balbuena, Carmen; Sogo López, Teresa
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

2011- San Millan Tejado, Beatriz; Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Teijeira Bautista, Susana; Vieitez González, Irene; [et al.]
Neurophysiological study in cerebrotendinous xanthomatosis.

2011- Sobrido Gómez, María Jesús; Navarro Fernández-Balbuena, Carmen
New insights in the amyloid-Beta interaction with mitochondria

2012- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Spuch Calvar, Carlos
Reverse phase protein microarray technology to provide new diagnostic markers of metabolism in rare diseases

2015- Navarro Fernández-Balbuena, Carmen
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.

2011- Arias Gómez, Manuel; Arias Rivas, Susana; Dapena Bolaño, Dolores; Navarro Fernández-Balbuena, Carmen; Pintos Martínez, Elena; [et al.]