Publications by authors named "Giuseppe Marangi"

57Publications

Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in .

Genes (Basel) 2020 Oct 9;11(10). Epub 2020 Oct 9.

Sezione di Medicina Genomica, Dipartimento Scienze della Vita e Sanità Pubblica, Facoltà di Medicina e Chirurgia, Università Cattolica Sacro Cuore, 00168 Roma, Italy.

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http://dx.doi.org/10.3390/genes11101177DOI Listing
October 2020

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Genes (Basel) 2020 Sep 24;11(10). Epub 2020 Sep 24.

Adult NEMO Clinical Center, Complex Operational Unit of Neurology, Department of Aging, Neurological, Orthopedic and Head-Neck Sciences, A. Gemelli University Hospital Foundation IRCCS, 00168 Roma, Italy.

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http://dx.doi.org/10.3390/genes11101123DOI Listing
September 2020

Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.

Acta Derm Venereol 2020 Jan 23;100(1):adv00038. Epub 2020 Jan 23.

Institute of Genomic Medicine, F. Policlinico Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo F. Vito 1, IT-00168 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3370DOI Listing
January 2020

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

Neurobiol Aging 2019 12 27;84:239.e9-239.e14. Epub 2019 Mar 27.

Centro Clinico NEMO, Roma, Italy; Dipartimento Scienze dell'invecchiamento, Neurologiche, Ortopediche e della testa-collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Roma, Italy; Università Cattolica del Sacro Cuore, Istituto di Neurologia, Roma, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.03.010DOI Listing
December 2019

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Authors:
Aude Nicolas Kevin P Kenna Alan E Renton Nicola Ticozzi Faraz Faghri Ruth Chia Janice A Dominov Brendan J Kenna Mike A Nalls Pamela Keagle Alberto M Rivera Wouter van Rheenen Natalie A Murphy Joke J F A van Vugt Joshua T Geiger Rick A Van der Spek Hannah A Pliner Shankaracharya Bradley N Smith Giuseppe Marangi Simon D Topp Yevgeniya Abramzon Athina Soragia Gkazi John D Eicher Aoife Kenna Gabriele Mora Andrea Calvo Letizia Mazzini Nilo Riva Jessica Mandrioli Claudia Caponnetto Stefania Battistini Paolo Volanti Vincenzo La Bella Francesca L Conforti Giuseppe Borghero Sonia Messina Isabella L Simone Francesca Trojsi Fabrizio Salvi Francesco O Logullo Sandra D'Alfonso Lucia Corrado Margherita Capasso Luigi Ferrucci Cristiane de Araujo Martins Moreno Sitharthan Kamalakaran David B Goldstein Aaron D Gitler Tim Harris Richard M Myers Hemali Phatnani Rajeeva Lochan Musunuri Uday Shankar Evani Avinash Abhyankar Michael C Zody Julia Kaye Steven Finkbeiner Stacia K Wyman Alex LeNail Leandro Lima Ernest Fraenkel Clive N Svendsen Leslie M Thompson Jennifer E Van Eyk James D Berry Timothy M Miller Stephen J Kolb Merit Cudkowicz Emily Baxi Michael Benatar J Paul Taylor Evadnie Rampersaud Gang Wu Joanne Wuu Giuseppe Lauria Federico Verde Isabella Fogh Cinzia Tiloca Giacomo P Comi Gianni Sorarù Cristina Cereda Philippe Corcia Hannu Laaksovirta Liisa Myllykangas Lilja Jansson Miko Valori John Ealing Hisham Hamdalla Sara Rollinson Stuart Pickering-Brown Richard W Orrell Katie C Sidle Andrea Malaspina John Hardy Andrew B Singleton Janel O Johnson Sampath Arepalli Peter C Sapp Diane McKenna-Yasek Meraida Polak Seneshaw Asress Safa Al-Sarraj Andrew King Claire Troakes Caroline Vance Jacqueline de Belleroche Frank Baas Anneloor L M A Ten Asbroek José Luis Muñoz-Blanco Dena G Hernandez Jinhui Ding J Raphael Gibbs Sonja W Scholz Mary Kay Floeter Roy H Campbell Francesco Landi Robert Bowser Stefan M Pulst John M Ravits Daniel J L MacGowan Janine Kirby Erik P Pioro Roger Pamphlett James Broach Glenn Gerhard Travis L Dunckley Christopher B Brady Neil W Kowall Juan C Troncoso Isabelle Le Ber Kevin Mouzat Serge Lumbroso Terry D Heiman-Patterson Freya Kamel Ludo Van Den Bosch Robert H Baloh Tim M Strom Thomas Meitinger Aleksey Shatunov Kristel R Van Eijk Mamede de Carvalho Maarten Kooyman Bas Middelkoop Matthieu Moisse Russell L McLaughlin Michael A Van Es Markus Weber Kevin B Boylan Marka Van Blitterswijk Rosa Rademakers Karen E Morrison A Nazli Basak Jesús S Mora Vivian E Drory Pamela J Shaw Martin R Turner Kevin Talbot Orla Hardiman Kelly L Williams Jennifer A Fifita Garth A Nicholson Ian P Blair Guy A Rouleau Jesús Esteban-Pérez Alberto García-Redondo Ammar Al-Chalabi Ekaterina Rogaeva Lorne Zinman Lyle W Ostrow Nicholas J Maragakis Jeffrey D Rothstein Zachary Simmons Johnathan Cooper-Knock Alexis Brice Stephen A Goutman Eva L Feldman Summer B Gibson Franco Taroni Antonia Ratti Cinzia Gellera Philip Van Damme Wim Robberecht Pietro Fratta Mario Sabatelli Christian Lunetta Albert C Ludolph Peter M Andersen Jochen H Weishaupt William Camu John Q Trojanowski Vivianna M Van Deerlin Robert H Brown Leonard H van den Berg Jan H Veldink Matthew B Harms Jonathan D Glass David J Stone Pentti Tienari Vincenzo Silani Adriano Chiò Christopher E Shaw Bryan J Traynor John E Landers

Neuron 2018 03;97(6):1268-1283.e6

Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2018.02.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867896PMC
March 2018

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

Neurobiol Aging 2018 04 28;64:157.e1-157.e5. Epub 2017 Nov 28.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.11.011DOI Listing
April 2018

Matrin 3 variants are frequent in Italian ALS patients.

Neurobiol Aging 2017 01 6;49:218.e1-218.e7. Epub 2016 Oct 6.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.023DOI Listing
January 2017

Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.

J Pediatr Genet 2015 Sep 25;4(3):168-76. Epub 2015 Sep 25.

Department of Laboratory Medicine, Institute of Medical Genetics, Catholic University, Rome, Italy.

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http://dx.doi.org/10.1055/s-0035-1564570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4918722PMC
September 2015

New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

Brain Pathol 2016 Mar;26(2):266-75

Institute of Medical Genetics, Catholic University School of Medicine, Rome, Italy.

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http://dx.doi.org/10.1111/bpa.12354DOI Listing
March 2016

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Am J Med Genet A 2016 Jan 7;170A(1):24-31. Epub 2015 Oct 7.

Department of Genetics, Faculty of Biology, Universitat de Barcelona, CIBERER, IBUB, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37418DOI Listing
January 2016

A genome-wide association study of myasthenia gravis.

JAMA Neurol 2015 Apr;72(4):396-404

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland11Department of Neurology, Johns Hopkins School of Medicine, Baltimore, M.

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http://www.viverelamiastenia.it/file/JAMA%20Neurology_MG%20G
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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2014.4103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856525PMC
April 2015

ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

Neurology 2015 Jan 19;84(3):251-8. Epub 2014 Dec 19.

From the ALS Center (A. Chiò, A. Calvo, C.M., A. Canosa, M. Brunetti, M. Barberis), "Rita Levi Montalcini" Department of Neuroscience, University of Torino; the Laboratory of Molecular Genetics (M. Brunetti, M. Barberis, G.R.), Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino (A. Chiò, A. Calvo); the Neuroscience Institute of Torino (NIT) (A. Chiò, A. Calvo); the Departments of Neurosciences, Ophthalmology, Genetics, Rehabilitation, and Child Health (A. Canosa), University of Genoa; the Neurological Institute (A. Conte, G.B., M.S.) and the Institute of Medical Genetics (G. Marangi, A.M., S.L., M.Z.), Catholic University of the Sacred Heart, Rome; the Department of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) (M. Bagarotti, L.C., S.D.), and the Department of Neurology (E.B., L.M.), "Amedeo Avogadro" University of Eastern Piedmont, Novara; the Salvatore Maugeri Foundation (A.B.), IRCSS, Pavia; the Scientific Institute of Milan (G. Mora); and Azienda Ospedaliera Universitaria Maggiore della Carità (E.B., L.M.), Novara, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001159DOI Listing
January 2015

Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

Brain Res 2015 May 12;1607:75-93. Epub 2014 Oct 12.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD, USA; Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00068993140136
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http://dx.doi.org/10.1016/j.brainres.2014.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916786PMC
May 2015

A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis.

Amyotroph Lateral Scler Frontotemporal Degener 2013 Sep 3;14(5-6):470-2. Epub 2013 Jan 3.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://www.tandfonline.com/doi/full/10.3109/21678421.2012.75
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http://dx.doi.org/10.3109/21678421.2012.756036DOI Listing
September 2013

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

Am J Med Genet A 2012 Jul 7;158A(7):1604-11. Epub 2012 Jun 7.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35419DOI Listing
July 2012

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

Eur J Hum Genet 2013 Feb 2;21(2):229-32. Epub 2012 May 2.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.79DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548258PMC
February 2013

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Nat Genet 2012 Apr 29;44(6):636-8. Epub 2012 Apr 29.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy.

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http://www.nature.com/articles/ng.2257
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http://dx.doi.org/10.1038/ng.2257DOI Listing
April 2012

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

Neuromuscul Disord 2012 Jan 9;22(1):73-5. Epub 2011 Sep 9.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, L.go A. Gemelli 8, 00168 Rome, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966110133
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http://dx.doi.org/10.1016/j.nmd.2011.08.003DOI Listing
January 2012

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant.

Neurobiol Aging 2011 Oct 28;32(10):1924.e15-8. Epub 2011 May 28.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.04.004DOI Listing
October 2011

A novel L67P SOD1 mutation in an Italian ALS patient.

Amyotroph Lateral Scler 2011 Mar 19;12(2):150-2. Epub 2011 Jan 19.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.3109/17482968.2011.551939DOI Listing
March 2011

SOD1 G93D mutation presenting as paucisymptomatic amyotrophic lateral sclerosis.

Amyotroph Lateral Scler 2009 Oct-Dec;10(5-6):479-82

Istituto di Neurologia, Università Cattolica del Sacro Cuore Rome, Italy.

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http://dx.doi.org/10.3109/17482960802302261DOI Listing
February 2010

A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.

J Med Genet 2010 Jun 20;47(6):429-32. Epub 2009 Oct 20.

Istituto di Genetica Medica, Università Cattolica Sacro Cuore, Policlinico A.Gemelli, Largo F. Vito 1, Roma 00168, Italy.

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http://dx.doi.org/10.1136/jmg.2009.071142DOI Listing
June 2010

Late-onset Lennox-Gastaut syndrome in a patient with 15q11.2-q13.1 duplication.

Am J Med Genet A 2009 May;149A(5):1033-5

Molecular Medicine, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32785DOI Listing
May 2009

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Am J Med Genet C Semin Med Genet 2008 Nov;148C(4):257-69

Department of Medical Genetics, Università Cattolica Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30190DOI Listing
November 2008

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.

Am J Med Genet A 2008 Sep;146A(18):2313-7

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32460DOI Listing
September 2008

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies.

Muscle Nerve 2008 Aug;38(2):1060-4

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Pol. A Gemelli Largo Gemelli 8, Rome, Italy.

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http://dx.doi.org/10.1002/mus.21083DOI Listing
August 2008

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Am J Med Genet A 2007 Jun;143A(11):1169-73

SC Genetica Umana, Ospedale Galliera, Genova, and Istituto di Genetica Medica, Facoltà di Mediciina e Chirurgia, Policlinico A. Gemelli, UCSC, Roma, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.31723
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http://dx.doi.org/10.1002/ajmg.a.31723DOI Listing
June 2007