Browse by Author "Navarro Fernández-Balbuena, Carmen"

Now showing items 1-20 of 35

A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology

2013- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

2011- San Millan Tejado, Beatriz; Carracedo Álvarez, Ángel; Sobrido Gómez, María Jesús; Blanco Arias, Patricia; García Murias, María; [et al.]
Advances in the treatment of neurodegenerative disorders employing nanoparticles

2012- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Spuch Calvar, Carlos
Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up

2014- Navarro Fernández-Balbuena, Carmen
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

2011- Navarro Fernández-Balbuena, Carmen
Clinical heterogeneity in adult forms of FHL1 related myopathies. The

2014- 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.]
Creutzfeldt-Jakob disease cluster in the health area of Meixoeiro Hospital

2013- del Campo Pérez, Victor Miguel; Maciñeiras Montero, José Luis; Escriche Jaime, Dolores; Moreno Carretero, María José; Corredera García, Enrique; [et al.]
Dystrophinopathy in manifesting female carriers: Clinical and genetic characterization in a cohort of 20 patients

2011- Navarro Fernández-Balbuena, Carmen
EUROMAC: Disease registry for McArdle disease and other pure muscle glycogenolytic disorders presenting with exercise intolerance

2014- Navarro Fernández-Balbuena, Carmen
Exercise related muscle disorders: The EUROMAC registry for mcardle disease and other rare glycogenolytic disorders.

2014- Navarro Fernández-Balbuena, Carmen
Expression, regulation and clinical relevance of the ATPase inhibitory factor 1 in human cancers.

2013- Navarro Fernández-Balbuena, Carmen; Clofent Villaplana, Juan
Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry

2012- Navarro Fernández-Balbuena, Carmen; Teijeira Bautista, Susana; Vieitez González, Irene
Goodpasture Antigen-binding Protein (GPBP) directs myofibril formation: Identification of intracellular downstream effector 130-kDa GPBP-interacting protein (GIP130)

2011- Navarro Fernández-Balbuena, Carmen
Identifying data sources for a national population-based registry: The experience of the Spanish rare diseases registry

2015- Navarro Fernández-Balbuena, Carmen; Vázquez Santos, Cristina
In vivo inhibition of the mitochondrial H+-ATP synthase in neurons promotes metabolic preconditioning.

2014- Navarro Fernández-Balbuena, Carmen
Intronic mutations in GLA causes Fabry disease

2014- Navarro Fernández-Balbuena, Carmen; Ortolano, Saida; Vieitez González, Irene
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
LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin

2012- Navarro Fernández-Balbuena, Carmen