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Lista de obras de Ana Ferreiro

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

artículo científico publicado en 2006

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies

artículo científico publicado en 2007

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

artículo científico publicado en 2007

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

artículo científico publicado en 2004

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy

artículo científico publicado en 2011

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

artículo científico publicado en 2002

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

artículo científico publicado en 2002

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

artículo científico publicado en 2009

Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis

artículo científico publicado en 2010

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

artículo científico publicado en 2002

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

scientific journal article

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