Publications by authors named "Paolo Prontera"

75Publications

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

Am J Hum Genet 2020 12 23;107(6):1170-1177. Epub 2020 Nov 23.

Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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December 2020

Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease.

Parkinsonism Relat Disord 2020 Dec 4;81:183-187. Epub 2020 Nov 4.

Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. Electronic address:

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December 2020

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2021 01 24;185(1):119-133. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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January 2021

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder: A case report.

Medicine (Baltimore) 2020 Jul;99(31):e21384

Pediatric Clinic, Pietro Barilla Children's Hospital, Department of Medicine and Surgery, University of Parma, Parma, Italy.

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July 2020

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation.

Medicine (Baltimore) 2020 Jul;99(27):e20995

Pediatric Clinic, Pietro Barilla Children's Hospital, Department of Medicine and Surgery, University of Parma, Parma, Italy.

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July 2020

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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January 2019

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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October 2018

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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November 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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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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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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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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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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October 2017

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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December 2015

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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September 2016

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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November 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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March 2016

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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November 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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December 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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September 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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October 2014

Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder.

J Autism Dev Disord 2014 Oct;44(10):2608-13

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

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October 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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July 2014

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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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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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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October 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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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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March 2009