Publications by authors named "Valerio Conti"

38Publications

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

J Neuroophthalmol 2020 Oct 26. Epub 2020 Oct 26.

Pediatric Ophthalmology Unit (GMB, SP, RC), Children's Hospital A. Meyer-University of Florence, Florence, Italy; and Pediatric Neurology (FM, VC, RG), Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, 50139 Florence, Italy.

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October 2020

High definition three-dimensional exoscope (VITOM 3D) for microsurgery training: a preliminary experience.

Eur Arch Otorhinolaryngol 2020 Sep 7;277(9):2589-2595. Epub 2020 May 7.

Otorhinolaryngology Unit, IRCCS Humanitas Clinical and Research Center, Via Manzoni 56, 20089, Rozzano, MI, Italy.

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September 2020

Pre-Clinical Experience With the VITOM 3D and the ARTip Cruise System for Micro-Laryngeal Surgery.

Laryngoscope 2021 01 16;131(1):136-138. Epub 2020 Apr 16.

Otorhinolaryngology Unit, Humanitas Clinical and Research Center-IRCCS, Rozzano, Milano, Italy.

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January 2021

Lesional and non-lesional epilepsies: A blurring genetic boundary.

Eur J Paediatr Neurol 2020 Jan 12;24:24-29. Epub 2019 Dec 12.

Paediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital Anna Meyer-University of Florence, 50139, Florence, Italy.

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January 2020

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Eur J Hum Genet 2019 06 25;27(6):909-918. Epub 2019 Jan 25.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

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June 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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February 2019

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.

J Biophotonics 2017 Jun 9;10(6-7):896-904. Epub 2017 Jan 9.

National Institute of Optics-National Research Council (INO-CNR), Via Nello Carrara 1, 50019, Sesto Fiorentino, Italy.

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June 2017

Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

Neurol Genet 2016 Dec 31;2(6):e118. Epub 2016 Oct 31.

The Danish Epilepsy Centre Filadelfia (R.S.M., G.R.), Dianalund, Denmark; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Sorbonne Universités (S.W., E.M., V.L., E.L., S.B.), UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, AP-HP, Institut du cerveau et la moelle (ICM)-Hôpital Pitié-Salpêtrière, Paris, France; Epilepsy Unit (S.W., V.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; Neurogenetics Group (S.W.), VIB-Department of Molecular Genetics; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (S.W.), University Hospital Antwerp, Belgium; Department of Pediatric Neurosurgery (M.C., S.F.-S., G.D.), Fondation Rothschild, Paris, France; Université Paris Sorbonne Cité (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Pères, Paris, France; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (S.M.H., J.W.P., K.M.B., G.M.C.), Huntsville, AL; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (D.M., V.C., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; Genosplice (P.d.l.G.), Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Amplexa Genetics (L.H.G.L.), Odense, Denmark; Department of Genetics and Cytogenetics (E.L., S.B.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; and University of Copenhagen (G.R.), Denmark.

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December 2016

Genetic Basis of Brain Malformations.

Mol Syndromol 2016 Sep 27;7(4):220-233. Epub 2016 Aug 27.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.

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September 2016

A versatile clearing agent for multi-modal brain imaging.

Sci Rep 2015 May 7;5:9808. Epub 2015 May 7.

1] European Laboratory for Non-linear Spectroscopy, University of Florence, Via Nello Carrara 1, 50019 Sesto Fiorentino, Italy [2] National Institute of Optics, National Research Council, Largo Fermi 6, 50125 Florence, Italy [3] Department of Physics and Astronomy, University of Florence, Via Sansone 1, 50019 Sesto Fiorentino, Italy.

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May 2015

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Neurology 2015 Apr 13;84(15):1520-8. Epub 2015 Mar 13.

From the Pediatric Neurology and Neurogenetics Unit and Laboratories (V.C., L.C., F.M., C.M., R.G.), A. Meyer Children's Hospital-University of Florence; Department of Biotechnology and Biosciences and Center of Neuroscience (P.A., S.B., A.B.), Università di Milano-Bicocca, Milan; Neurophysiopathology Unit (M.A., A.M., C.L., F.P., A.R.), Sleep and Epilepsy Center, Department of Systems Medicine, University of Rome Tor Vergata General Hospital, Rome; IRCCS Neuromed (A.R.), Pozzilli, Isernia; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

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April 2015

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

BMC Med Genet 2014 Feb 27;15:26. Epub 2014 Feb 27.

Clinical Neurophysiology Laboratory, IRCCS Stella Maris Foundation, Viale del Tirreno 331, Pisa, Calambrone 56128, Italy.

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February 2014

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

Neurology 2012 Nov 17;79(21):2109-14. Epub 2012 Oct 17.

Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital-University of Florence, Florence, Italy.

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November 2012

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Am J Med Genet A 2011 Apr 17;155A(4):892-7. Epub 2011 Mar 17.

Paediatric Neurology and Neurogenetics Unit and Laboratories, Children's Hospital A. Meyer, University of Florence, Firenze, Italy.

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April 2011

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Am J Med Genet A 2011 Jan 10;155A(1):164-7. Epub 2010 Dec 10.

Children's Hospital A. Meyer, University of Florence, Firenze, Italy.

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January 2011

Expression of Tsga10 sperm tail protein in embryogenesis and neural development: from cilium to cell division.

Biochem Biophys Res Commun 2006 Jun 21;344(4):1102-10. Epub 2006 Apr 21.

The Galton Laboratory, Department of Biology, University College London, London NW1 2HE, UK.

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June 2006