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Barbara Bardoni on Muck Rack

Barbara Bardoni

As seen in: Frontiers
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Articles

The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype

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By Barbara Bardoni, Maria Giuseppina Miano, Curtis A. Benson, Sangeeta Nath
| Frontiers
Manon Dobrigna1, Sandrine Poëa-Guyon1, Véronique Rousseau1, Aline Vincent2, Annick Toutain3 and Jean-Vianney Barnier1* 1Institut des Neurosciences Paris-Saclay, UMR 9197, CNRS, Université Paris-Saclay, Saclay, France 2Department of Genetics, EA7450 BioTARGen, University Hospital of Caen, Caen, France 3Department of Genetics, University Hospital of Tours, UMR 1253, iBrain, Université de Tours, INSERM, Tours, France Although the identification of numerous genes involved in neurodevelopmental...
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New insights into the regulation of Cystathionine beta synthase (CBS), an enzyme involved in intellectual deficiency in Down syndrome

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By Laboratoire d’Innovation Thérapeutique, Barbara Bardoni, Ims Medalis
| Frontiers
Introduction Down syndrome (DS) is the most frequent chromosomic aberration, with a prevalence of one in 650–1,000 live births worldwide. This genetic condition results from the presence of an extra copy of chromosome 21, as first described by Lejeune et al. (1959).
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The Shank3Venus/Venus knock in mouse enables isoform-specific functional studies of Shank3a

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By Univ Montpellier, Barbara Bardoni, Jiseok Lee, Simona D'Antoni
| Frontiers
Introduction Autism Spectrum Disorders (ASDs) affect about 1% of the human population. Patients with ASD have impairments in social communication and interaction and present repetitive and stereotyped behaviors (American Psychiatric Association, 2013). A significant proportion of ASD is due to genetic mutations, which has given hope for treatment (Kleijer et al., 2014).
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