Lista de obras - Virginia Barone - Dominio Público Uruguay

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

artículo científico publicado en 2014

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

artículo científico publicado en 2017

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

artículo científico publicado en 2004

Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated muscles

artículo científico publicado en 2003

Chemical Characterisation and Antihypertensive Effects of Locular Gel and Serum of Lycopersicum esculentum L. var. "Camone" Tomato in Spontaneously Hypertensive Rats

artículo científico publicado en 2020

Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning

artículo científico publicado en 1999

Examining the Impact of Maternal Individual Features on Children's Behavioral Problems in Adoptive Families: The Role of Maternal Temperament and Neurobiological Markers

artículo científico publicado en 2018

Frequency of RET mutations in long- and short-segment Hirschsprung disease

artículo científico publicado en 1997

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy

artículo científico publicado en 2017

Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

artículo científico publicado en 2011

Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney

scientific journal article

Molecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulum

artículo científico publicado en 2006

Overexpression of YAP1 induces immortalization of normal human keratinocytes by blocking clonal evolution

artículo científico publicado en 2010

Requirement for the ryanodine receptor type 3for efficient contraction in neonatal skeletal muscles ⬇️

artículo científico publicado el 1 de diciembre de 1997

Structure and mutation analysis of the glycogen storage disease type 1b gene.

artículo científico publicado en 1998

Testing an Attachment-Based Parenting Intervention-VIPP-FC/A in Adoptive Families with Post-institutionalized Children: Do Maternal Sensitivity and Genetic Markers Count?