Alice Traversa

Alice Traversa

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Alice Traversa

Alice Traversa

Publications by authors named "Alice Traversa"

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Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.

Neurodegener Dis 2019 2;19(2):96-100. Epub 2019 Oct 2.

Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1159/000502906DOI Listing
October 2019

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

Eur J Med Genet 2019 Sep 27:103772. Epub 2019 Sep 27.

Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, Viale Regina Elena 324, Rome, Italy; Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, San Giovanni Rotondo, FG, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103772DOI Listing
September 2019

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

Novel SMAD4 mutation causing Myhre syndrome.

Am J Med Genet A 2014 Jul 8;164A(7):1835-40. Epub 2014 Apr 8.

Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36544DOI Listing
July 2014