Publications by authors named "Teresa Giugliano"

30Publications

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.

Neurol Sci 2019 07 21;40(7):1475-1476. Epub 2019 Jan 21.

Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Via L. De Crecchio 4, 80138, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-019-3728-8DOI Listing
July 2019

Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?

Ital J Pediatr 2018 Mar 22;44(1):41. Epub 2018 Mar 22.

Centro di Riferimento Pediatrico delle Neurofibromatosi, Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "L. Vanvitelli", Caserta, Italy.

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http://dx.doi.org/10.1186/s13052-018-0477-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863905PMC
March 2018

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Am J Med Genet A 2018 Mar 28;176(3):722-726. Epub 2017 Dec 28.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38589DOI Listing
March 2018

From Gardner fibroma diagnosis to constitutional mutation detection: a one-way street.

Clin Case Rep 2017 10 10;5(10):1557-1560. Epub 2017 Aug 10.

Dipartimento della Donnadel Bambino e della Chirurgia generale e specialistica Università degli Studi della Campania Luigi Vanvitelli Naples Italy.

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http://dx.doi.org/10.1002/ccr3.1065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628198PMC
October 2017

Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.

Am J Med Genet A 2017 Jun 19;173(6):1521-1530. Epub 2017 Apr 19.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38212DOI Listing
June 2017

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results.

Neuromuscul Disord 2016 06 31;26(6):367-9. Epub 2016 Mar 31.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879147PMC
June 2016

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

J Mol Neurosci 2016 Jul 22;59(3):351-9. Epub 2016 Apr 22.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-016-0739-2DOI Listing
July 2016

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Neuromuscul Disord 2016 Apr-May;26(4-5):292-9. Epub 2016 Feb 17.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862961PMC
January 2017

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

J Neurochem 2015 Dec 12;135(6):1123-8. Epub 2015 Nov 12.

Division of Neurology & InterUniversity Center for Research in Neuroscience, Department of Clinical and Experimental Medicine and Surgery, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.1111/jnc.13396DOI Listing
December 2015

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Eur J Hum Genet 2015 Nov 13;23(11):1460-1. Epub 2015 May 13.

Dipartimento di Biochimica Biofisica e Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy.

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http://dx.doi.org/10.1038/ejhg.2015.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613473PMC
November 2015

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

BMC Med Genet 2014 Apr 26;15:44. Epub 2014 Apr 26.

Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Second University of Naples, Via Luigi De Crecchio, 4, Naples 80138, Italy.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-15-44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005403PMC
April 2014

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.

Neuropsychiatr Dis Treat 2014 20;10:135-40. Epub 2014 Jan 20.

Division of Neurology, Department of Clinical and Experimental Medicine and Surgery ; Institute of Protein Biochemistry, National Research Council, Naples, Italy.

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http://dx.doi.org/10.2147/NDT.S49784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901779PMC
January 2014