Paolo Prontera

Paolo Prontera

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Paolo Prontera

Publications by authors named "Paolo Prontera"

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Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the Gene: A Case Report.

Int J Mol Sci 2019 Jan 27;20(3). Epub 2019 Jan 27.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

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http://dx.doi.org/10.3390/ijms20030527DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387074PMC
January 2019

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.

Cell 2018 11;175(4):1088-1104.e23

Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA; Department of Psychiatry, Yale School of Medicine, New Haven, CT 06510, USA; Departments of Genetics and of Comparative Medicine, Program in Cellular Neuroscience, Neurodegeneration and Repair, and Yale Child Study Center, Yale School of Medicine, New Haven, CT 06510, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459420PMC
November 2018

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" Missense Mutation and Complex Skin Hamartoma.

Int J Mol Sci 2018 Oct 16;19(10). Epub 2018 Oct 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Menghini 1, 06129 Perugia, Italy.

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http://www.mdpi.com/1422-0067/19/10/3189
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http://dx.doi.org/10.3390/ijms19103189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213993PMC
October 2018

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Bone 2018 09 19;114:125-136. Epub 2018 Jun 19.

Humanitas Clinical and Research Institute, via Manzoni 113, 20089 Rozzano, Italy; CNR-IRGB, Milan Unit, via Fantoli 16/15, 20138 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2018.06.013DOI Listing
September 2018

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Neurology 2018 06 11;90(23):e2059-e2067. Epub 2018 May 11.

From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry (E.B., A.M.F., A.S.B.), Toronto General Research Institute (A.S.B.), and Division of Cardiology, Department of Medicine (A.S.B.), University Health Network, Toronto, Canada; De Hartekamp Groep (E.B.), Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine (E.B., J.B.), Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute (N.J.B., A.M.F., A.S.B.), Centre for Addiction and Mental Health, Toronto; Institute of Medical Science (N.J.B., M.M., A.E.L., A.S.B.), Division of Neurology, Department of Medicine (C.M., M.M., A.E.L.), and Department of Psychiatry (A.S.B.), University of Toronto; Deer Lodge Movement Disorders Centre (S.U.); Section of Neurology (S.U.), Division of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Research (C.M., A.E.L.), Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience (K.Y.M., N.W.W.), UCL Institute of Neurology, London, UK; Department of Neurology (S.K.), Kansai Medical University, Osaka, Japan; Department of Neurology (M.J.B.), University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit (P.P.), Perugia University Hospital, Italy; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), VA Eastern Colorado Health Care System, Denver; Cognitive & Movement Disorders Clinic and Hurvitz Brain Sciences Research Program (M.M.), Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders) (B.D.) and Genetics (Neurogenetics) (K.N.), Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University (B.D., K.N.), Marseille; Department of Genetics (Neurogenetics) (P.C., A.J.), Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders) (E.M.), Lille University Hospital; Lille University (E.M.); Department of Neurology (Movement Disorders) (T.D.), Pierre Wertheimer University Hospital, Lyon; Marc Jeannerod Center for Cognitive Neurosciences (T.D.), Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences) (O.C.), Poitiers University Hospital; Department of Neurology (Movement Disorders) (S.D.), Rennes University Hospital; Rennes-1 University (S.D.); Department of Clinical Neurosciences (Movement Disorders) (M.B.), Nice University Hospital, France; Department of Psychiatry (A.M.F.), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics (E.V., A.S., A.V.), University Hospital Leuven; Department of Human Genetics (A.S.), KU Leuven, Belgium; Department of Neurology (A.P.), University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate (C.P.), National Administration of Laboratories and Institutes of Health, Argentina; Department of Neurodegenerative Diseases (T.G.), Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.); Department of Neurology (K.C.), AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center (F.B.), Hôpital Foch, Suresnes, France; Movement Disorder Division (K.M.), Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences (N.M.W.), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183PMC
June 2018

Report of a Novel Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Front Endocrinol (Lausanne) 2018 10;9:163. Epub 2018 Apr 10.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Perugia, Italy.

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http://dx.doi.org/10.3389/fendo.2018.00163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902492PMC
April 2018

Clinical features and outcome of 6 new patients carrying de novo gene mutations.

Neurol Genet 2017 Dec 11;3(6):e206. Epub 2017 Dec 11.

Pediatric Neurology Unit (C.M., E.P., D.M., F.M., T.M., E.C., S.V., D.D.V., R.G.), Neurogenetics and Neurobiology Laboratories, Neuroscience Department, A. Meyer Pediatric Hospital, University of Florence; Neurology Unit (M.R., C.C., P.C.), Department of Medicine, University of Perugia, Ospedale S. Maria della Misericordia; Child Neurology Service (L.P.), Hospital of Bolzano; Metabolic Unit (E.P.), A. Meyer Pediatric Hospital, Florence; Medical Genetics Unit (M.G.), Azienda Sanitaria Locale Bari; Neonatology Unit and Prenatal Diagnosis (P.P.), Medical Genetic Unit, Ospedale S. Maria della Misericordia, Perugia; Department of Experimental Neurosciences (P.C.), "Istituto di Ricovero e Cura a Carattere Scientifico," IRCCS Santa Lucia Foundation, Rome; and IRCCS Stella Maris Foundation (R.G.), Calambrone, Pisa, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733250PMC
December 2017

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

Int J Mol Sci 2017 Oct 29;18(11). Epub 2017 Oct 29.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, 06123 Perugia, Italy.

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http://www.mdpi.com/1422-0067/18/11/2273
Publisher Site
http://dx.doi.org/10.3390/ijms18112273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713243PMC
October 2017

Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.

Muscle Nerve 2017 06 26;55(6):E24-E25. Epub 2017 Mar 26.

Department of Biomedicine and Prevention, University Tor Vergata Rome, Italy.

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http://dx.doi.org/10.1002/mus.25407DOI Listing
June 2017

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

J Neural Transm (Vienna) 2016 11 1;123(11):1301-1307. Epub 2016 Jun 1.

Clinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.

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http://dx.doi.org/10.1007/s00702-016-1578-6DOI Listing
November 2016

A novel MED12 mutation: Evidence for a fourth phenotype.

Am J Med Genet A 2016 09 17;170(9):2377-82. Epub 2016 Jun 17.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37805DOI Listing
September 2016

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

J Clin Endocrinol Metab 2016 Mar 13;101(3):861-70. Epub 2016 Jan 13.

Laboratorio di Ricerche Endocrino-Metaboliche (T.d.F., F.M., P.Po., L.P.), Istituto di Ricevero e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, 20149 Milano, Italy; Clinica Pediatrica De Marchi (G.N.) and Unità di Endocrinologia (L.F.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Dipartimento di Fisiopatologia Medica e Chirurgica e dei Trapianti (L.F.), Università degli Studi di Milano; and Dipartimento di Scienze Cliniche e di Comunità (L.P.), Università di Milano, 20122 Milano, Italy; Unità di Endocrinologia (S.C.), IRCCS Policlinico San Donato, 20097 San Donato Milanese, Milano, Italy; Dipartimento di Scienze Biomediche per la Salute (S.C.), Università degli Studi di Milano, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Milano, Italy; Dipartimento di Pediatria (R.G., M.M.), IRCCS Giannina Gaslini, Università di Genova, 16148 Genova, Italy; Dipartimento di Pediatria (M.C.V., G.E.), IRCCS Istituto San Raffaele, Università Vita-Salute San Raffaele, 20132 Milano, Italy; Dipartimento di Scienze Cardiache, Vascolari e Toraciche (R.B.), Università di Padova, 35128 Padova, Italy; Unità di Genetica Clinica ed Epidemiologica (D.F.), Università degli Studi-Azienda Ospedaliera di Padova, 35128 Padova, Italy; Unità di Genetica Medica (L.M.), Ospedale Maria Paternò Arezzo, 97100 Ragusa, Italy; Centro di Riferimento Regionale di Genetica Medica (P.Pr.), Azienda Ospedaliera-Universitaria di Perugia, 06156 Perugia, Italy; Dipartimento di Scienze Mediche Traslazionali (M.S.), Università degli Studi Federico II, 80131 Napoli, Italy; Dipartimento di Biologia (N.T.), Università di Padova, 35128 Padova, Italy; and Divisione Pediatrica (G.R.), Ospedale Regionale di Bolzano, 39100 Bolzano, Italy.

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http://dx.doi.org/10.1210/jc.2015-3403DOI Listing
March 2016

Migraine and epilepsy: what value today?

J Headache Pain 2015 Dec;16(Suppl 1):A44

Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Perugia, Italy.

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http://dx.doi.org/10.1186/1129-2377-16-S1-A44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759038PMC
December 2015

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Hum Mutat 2015 Nov 24;36(11):1043-7. Epub 2015 Aug 24.

Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy.

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http://dx.doi.org/10.1002/humu.22853DOI Listing
November 2015

A genetic-demographic approach reveals a gender-specific association of SLC6A3/DAT1 40 bp-VNTR with life-expectancy.

Biogerontology 2015 Jun 24;16(3):365-73. Epub 2015 Jan 24.

School of Biosciences and Biotechnologies, University of Camerino, Camerino, Italy.

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http://dx.doi.org/10.1007/s10522-015-9552-5DOI Listing
June 2015

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

Nat Genet 2015 Feb 15;47(2):132-41. Epub 2014 Dec 15.

1] Department of Experimental Oncology, European Institute of Oncology (Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS), Milan, Italy. [2] Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ng.3169DOI Listing
February 2015

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly.

Am J Med Genet A 2014 Dec 24;164A(12):3137-41. Epub 2014 Sep 24.

Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera-Universitaria di Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36741DOI Listing
December 2014

DPP6 gene disruption in a family with Gilles de la Tourette syndrome.

Neurogenetics 2014 Oct 17;15(4):237-42. Epub 2014 Aug 17.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia, Hospital "S. M. della Misericordia", Via E. dal Pozzo, 06123, Perugia, Italy,

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http://link.springer.com/10.1007/s10048-014-0418-9
Publisher Site
http://dx.doi.org/10.1007/s10048-014-0418-9DOI Listing
October 2014

Hypothesis: gonadal temperature influences sex-specific imprinting.

Front Genet 2014 25;5:294. Epub 2014 Aug 25.

Medical Genetics Unit, Department of Surgical and Biomedical Sciences, University of Perugia Perugia, Italy.

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http://dx.doi.org/10.3389/fgene.2014.00294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4142806PMC
September 2014

Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

Eur J Paediatr Neurol 2014 Jul 15;18(4):453-7. Epub 2014 Feb 15.

Clinica Neurologica, Azienda Ospedaliero - Universitaria di Perugia, Italy; I.R.C.C.S., Fondazione S. Lucia, Roma, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.02.001DOI Listing
July 2014

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

Cephalalgia 2014 Jan 5;34(1):68-72. Epub 2013 Aug 5.

Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Italy.

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http://dx.doi.org/10.1177/0333102413498941DOI Listing
January 2014

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Mol Genet Metab 2012 Nov 6;107(3):627-9. Epub 2012 Jul 6.

Unita' Operativa di Genetica Medica, Azienda Ospedaliera Bianchi-Melacrino-Morelli, Reggio Calabria, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.019DOI Listing
November 2012

Xq12-q13.3 duplication: evidence of a recurrent syndrome.

Ann Neurol 2012 Nov;72(5):821-2; author reply 822-3

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http://dx.doi.org/10.1002/ana.23754DOI Listing
November 2012

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin.

Am J Med Genet A 2011 Dec 3;155A(12):3125-7. Epub 2011 Nov 3.

CRR Genetica Medica, Università ed Azienda Ospedaliera di Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34295DOI Listing
December 2011

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Am J Med Genet A 2011 Nov 11;155A(11):2746-9. Epub 2011 Oct 11.

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34270DOI Listing
November 2011

Deletion 2p15-16.1 syndrome: case report and review.

Am J Med Genet A 2011 Oct 9;155A(10):2473-8. Epub 2011 Sep 9.

Sezione di Genetica Medica, Università e Azienda Ospedaliera di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33875DOI Listing
October 2011

Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus.

Am J Med Genet A 2011 May 4;155A(5):1106-8. Epub 2011 Apr 4.

Sezione di Genetica Medica, Azienda Ospedaliera e Università di Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33826DOI Listing
May 2011

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia.

Am J Med Genet A 2011 Apr 17;155A(4):928-30. Epub 2011 Mar 17.

Medical Genetics Unit, Department of Clinical and Experimental Medicine, University of Perugia and S. Maria della Misericordia Hospital, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33817DOI Listing
April 2011

Hot water epilepsy and Mccune-Albright syndrome: a case report.

Seizure 2009 Mar 15;18(2):161-2. Epub 2008 Aug 15.

Clinica Neurologica, University of Perugia, Ospedale S. Maria della Misericordia, S Andrea delle Fratte, 06156 Perugia, Italy.

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http://dx.doi.org/10.1016/j.seizure.2008.07.005DOI Listing
March 2009

Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML).

Am J Med Genet A 2009 Mar;149A(3):543-5

Medical Genetics Unit, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32692DOI Listing
March 2009

2q31.2q32.3 deletion syndrome: report of an adult patient.

Am J Med Genet A 2009 Feb;149A(4):706-12

Medical Genetics Unit, University of Perugia, Perugia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32688DOI Listing
February 2009