Sara Benedetti

Sara Benedetti

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Sara Benedetti

Sara Benedetti

Publications by authors named "Sara Benedetti"

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A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.

Heart Rhythm 2020 Feb 19;17(2):296-304. Epub 2019 Aug 19.

Vita-Salute San Raffaele University, Milan, Italy; Genomic Unit for the Diagnosis of Human Pathologies, Division of Genetics and Cellular Biology, IRCCS San Raffaele Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2019.08.018DOI Listing
February 2020

Pericytes in Muscular Dystrophies.

Adv Exp Med Biol 2019 ;1147:319-344

Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/978-3-030-16908-4_15DOI Listing
August 2019

Expanding the central nervous system disease spectrum associated with FLNC mutation.

Muscle Nerve 2019 05 20;59(5):E33-E37. Epub 2019 Feb 20.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/mus.26443DOI Listing
May 2019

Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells.

Stem Cell Reports 2019 03 7;12(3):461-473. Epub 2019 Feb 7.

Department of Cell and Developmental Biology, University College London, WC1E 6DE London, UK; The Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health, University College London, WC1N 1EH London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22136711193000
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http://dx.doi.org/10.1016/j.stemcr.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409426PMC
March 2019

Vascular growth factors play critical roles in kidney glomeruli.

Clin Sci (Lond) 2015 Dec;129(12):1225-36

Developmental Biology and Cancer Programme, Institute of Child Health, University College London, London WC1N 1EH, U.K.

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http://www.clinsci.org/content/ppclinsci/129/12/1225.full.pd
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http://clinsci.org/cgi/doi/10.1042/CS20150403
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http://dx.doi.org/10.1042/CS20150403DOI Listing
December 2015

High-throughput genetic characterization of a cohort of Brugada syndrome patients.

Hum Mol Genet 2015 Oct 28;24(20):5828-35. Epub 2015 Jul 28.

Laboratory of Clinical Molecular Biology and Cytogenetics and.

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http://dx.doi.org/10.1093/hmg/ddv302DOI Listing
October 2015

Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage.

Radiology 2015 Jul 22;276(1):207-18. Epub 2015 Jan 22.

From the Neuroimaging Research Unit (F.A., E.G.S., E.C., E.P., M. Filippi) and Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience (M. Scarlato, E.G.S., M. Sessa, G.C., M. Filippi), San Raffaele Scientific Institute, via Olgettina 60, 20132 Milan, Italy; Laboratory of Clinical Molecular Biology and Cytogenetics, San Raffaele Scientific Institute, Milan, Italy (S.B., M. Ferrari); Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Department of Medico-Surgical Sciences and Biotechnologies, La Sapienza University of Rome, Rome, Italy (C.C.); Biostatistics Unit, IRCCS-Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy (M.C.); Vita-Salute San Raffaele University, Milan, Italy (G.C., M. Ferrari, A.F., M. Filippi); and Department of Neuroradiology, San Raffaele Scientific Institute, Milan, Italy (A.F.).

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http://dx.doi.org/10.1148/radiol.14141715DOI Listing
July 2015

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.

J Neurol 2015 Feb 16;262(2):476-8. Epub 2014 Dec 16.

Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy,

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http://dx.doi.org/10.1007/s00415-014-7606-2DOI Listing
February 2015

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Neurology 2014 Oct 1;83(18):1634-44. Epub 2014 Oct 1.

From the Department of Neurology IV (L. Maggi, G.B., D.K., P.B., L.C., R.M., L. Morandi), Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., L.T., E.B.), Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome; Child Neurology Unit (A.P.), IRCCS Institute of Neurological Sciences, Bologna; Department of Paediatric Neurology (S. Sivo, M.P., E.M.), Catholic University, Rome; Department of Clinical and Experimental Medicine (G.R., G.S.), Section of Neurology, University of Pisa; Department of Neuroscience Rita Levi Montalcini (L.V., T.M.), University of Torino; Cardiomyology and Medical Genetics (P.D., L.P.), Second Naples University; Arrhythmia Unit and Electrophysiology Laboratories (S. Sala), Institute of Experimental Neurology (Inspe) and Department of Neurology (M.S., S.C.P.) and Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics (M.F.), San Raffaele Scientific Institute, Milan; Vita-Salute San Raffaele University (M.F.), Milan; Laboratory of Molecular Biology (M.F., S.B.), Diagnostica e Ricerca San Raffaele, Milan; Department of Neurosciences (E.P.), University of Padova, Padua; Department of Neurosciences (A.T., C.R.), University of Messina; National Research Council of Italy (G.L.), Institute of Molecular Genetics Unit of Bologna and Laboratory of Musculoskeletal Cell Biology IOR, Bologna; and Department of Public Health, Clinical and Molecular Medicine (N.C.), University of Cagliari, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000934DOI Listing
October 2014

Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

Clin Chim Acta 2014 Sep 7;436:276-82. Epub 2014 Jun 7.

Vita-Salute San Raffaele University, Milan, Italy; Clinical Molecular Biology and Cytogenetics Laboratory, IRCCS San Raffaele Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.05.026DOI Listing
September 2014

Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.

Eur J Hum Genet 2013 Sep 16;21(9):911-7. Epub 2013 Jan 16.

Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Milano, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746265PMC
September 2013

Repair or replace? Exploiting novel gene and cell therapy strategies for muscular dystrophies.

FEBS J 2013 Sep 4;280(17):4263-80. Epub 2013 Mar 4.

Department of Cell and Developmental Biology, University College London, UK.

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http://dx.doi.org/10.1111/febs.12178DOI Listing
September 2013

Dll4 and PDGF-BB convert committed skeletal myoblasts to pericytes without erasing their myogenic memory.

Dev Cell 2013 Mar 7;24(6):586-99. Epub 2013 Mar 7.

Department of Cell and Developmental Biology and Centre for Stem Cells and Regenerative Medicine, University College London, WC1E 6DE London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S15345807130007
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http://dx.doi.org/10.1016/j.devcel.2013.01.022DOI Listing
March 2013

Cognitive impairment affects physical recovery of patients with heart failure undergoing intensive cardiac rehabilitation.

Rehabil Res Pract 2012 30;2012:218928. Epub 2012 Dec 30.

Cardiovascular Research Unit, Department of Medical Sciences, IRCCS San Raffaele, Via della Pisana 235, 00163 Rome, Italy.

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http://dx.doi.org/10.1155/2012/218928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544314PMC
January 2013

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Biochim Biophys Acta 2012 Jun 3;1822(6):970-9. Epub 2012 Feb 3.

ProMiFa, Protein Microsequencing Facility, Division of Cell Biology and Genetics, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2012.01.014DOI Listing
June 2012

A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

Cardiovasc Res 2011 Sep 24;91(4):606-16. Epub 2011 Jun 24.

Department of Biotechnology and Biosciences, University of Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.

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http://dx.doi.org/10.1093/cvr/cvr142DOI Listing
September 2011

Co-segregation of LMNA and PMP22 gene mutations in the same family.

Neuromuscul Disord 2005 Dec 8;15(12):858-62. Epub 2005 Nov 8.

Department of Neurosciences, University of Padova, via Giustiniani 5, Italy.

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http://dx.doi.org/10.1016/j.nmd.2005.08.008DOI Listing
December 2005

Laminopathies: from the heart of the cell to the clinics.

Curr Opin Neurol 2004 Oct;17(5):553-60

Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milan, Italy.

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http://dx.doi.org/10.1097/00019052-200410000-00005DOI Listing
October 2004