Giorgia Piccini

Giorgia Piccini

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Giorgia Piccini

Giorgia Piccini

Publications by authors named "Giorgia Piccini"

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11Publications

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Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.

Clin Genet 2019 Aug 5;96(2):169-175. Epub 2019 Jun 5.

Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13562
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http://dx.doi.org/10.1111/cge.13562DOI Listing
August 2019

Neurobehavioral features in individuals with Kabuki syndrome.

Mol Genet Genomic Med 2018 05 13;6(3):322-331. Epub 2018 Mar 13.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/mgg3.348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014453PMC
May 2018

Psychopathological features in Noonan syndrome.

Eur J Paediatr Neurol 2018 Jan 28;22(1):170-177. Epub 2017 Sep 28.

Department of Neuroscience, Unit of Child Neuropsychiatry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.09.009DOI Listing
January 2018

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Stem Cells Transl Med 2016 Jul 9;5(7):860-9. Epub 2016 May 9.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy

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http://dx.doi.org/10.5966/sctm.2015-0303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922854PMC
July 2016

Behavioral phenotype in Costello syndrome with atypical mutation: a case report.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 4;168B(1):66-71. Epub 2014 Nov 4.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32279DOI Listing
January 2015

Developmental lag of visuospatial attention in Duchenne muscular dystrophy.

Res Dev Disabil 2015 01 14;36C:55-61. Epub 2014 Oct 14.

Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ridd.2014.09.021DOI Listing
January 2015

Behavioral profile in RASopathies.

Am J Med Genet A 2014 Apr 23;164A(4):934-42. Epub 2014 Jan 23.

Dipartimento di Neuroscienze, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36374DOI Listing
April 2014