Navegar por autor "San Millan Tejado, Beatriz"

Mostrando ítems 1-11 de 11

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.]
Another application of PAX8: To confirm the presence of seminal vesicle epithelium in prostate needle biopsies

2015- San Millan Tejado, Beatriz; Ortiz Rey, José Antonio; Tardio Baiges, Antoni; Peteiro Cancelo, Maria de los Angeles; Juaneda Benavides, Laura [et al.]
Chloroquine-induced myopathy

2011- García Doval, José Ignacio; San Millan Tejado, Beatriz; Posada García, Celia; García Cruz, María Aranzazu; Teijeira Bautista, Susana [et al.]
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

2020- Scalco, R. S.; Lucia, A.; Santalla, A.; Martinuzzi, A.; Vavla, M.; [et al.]
Diplopía aislada como forma de presentación de CADASIL: a propósito de un caso

2014- San Millan Tejado, Beatriz
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo

2020- Todd, T. W.; McEachin, Z. T.; Chew, J.; Burch, A. R.; Jansen-West, K.; [et al.]
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.

2012- San Millan Tejado, Beatriz; Navarro Fernández-Balbuena, Carmen
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.

2012- Navarro Fernández-Balbuena, Carmen; San Millan Tejado, Beatriz
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.]
Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy

2015- San Millan Tejado, Beatriz