List of works - Virginia Barone

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

scientific article

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

scientific article published on 26 October 2017

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

scientific article

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

scientific article

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

scientific article published on 18 August 2020

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

scientific article

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

scientific article

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

scientific article published on 01 January 1997

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

scientific article published on 11 September 2017

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

scientific article published on 23 June 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

scientific article

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

scientific article published on 31 July 2010

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

scientific article

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

scientific article published on 19 February 2018

The sarcoplasmic reticulum: an organized patchwork of specialized domains.

scientific article published on 04 February 2008

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

scientific article

Voltage-controlled Ca2+ release in normal and ryanodine receptor type 3 (RyR3)-deficient mouse myotubes.

scientific article published in November 1998

Yip1B isoform is localized at ER-Golgi intermediate and cis-Golgi compartments and is not required for maintenance of the Golgi structure in skeletal muscle

scientific article

List of works by Virginia Barone

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The sarcoplasmic reticulum: an organized patchwork of specialized domains.

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine

Voltage-controlled Ca2+ release in normal and ryanodine receptor type 3 (RyR3)-deficient mouse myotubes.

Yip1B isoform is localized at ER-Golgi intermediate and cis-Golgi compartments and is not required for maintenance of the Golgi structure in skeletal muscle