about
Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated musclesMolecular interactions with obscurin are involved in the localization of muscle-specific small ankyrin1 isoforms to subcompartments of the sarcoplasmic reticulumDeletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learningA novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhoodTwo de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraineMolecular cloning and functional characterization of a GABA/betaine transporter from human kidneyIncreased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.Structure and mutation analysis of the glycogen storage disease type 1b gene.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.The sarcoplasmic reticulum: an organized patchwork of specialized domains.Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Examining the Impact of Maternal Individual Features on Children's Behavioral Problems in Adoptive Families: The Role of Maternal Temperament and Neurobiological Markers.Testing an Attachment-Based Parenting Intervention-VIPP-FC/A in Adoptive Families with Post-institutionalized Children: Do Maternal Sensitivity and Genetic Markers Count?Voltage-controlled Ca2+ release in normal and ryanodine receptor type 3 (RyR3)-deficient mouse myotubes.Frequency of RET mutations in long- and short-segment Hirschsprung diseaseOverexpression of YAP1 induces immortalization of normal human keratinocytes by blocking clonal evolution
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Virginia Barone
@ast
Virginia Barone
@en
Virginia Barone
@es
Virginia Barone
@nl
type
label
Virginia Barone
@ast
Virginia Barone
@en
Virginia Barone
@es
Virginia Barone
@nl
prefLabel
Virginia Barone
@ast
Virginia Barone
@en
Virginia Barone
@es
Virginia Barone
@nl
P106
P31
P496
0000-0001-8794-9291