Silvana Penco

Silvana Penco

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Silvana Penco

Publications by authors named "Silvana Penco"

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Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL.

Neurol Sci 2019 Aug 1;40(8):1751-1753. Epub 2019 Mar 1.

Medical Genetics Unit, Department of Laboratory Medicine, ASST Grande Ospedale Metropolitano Niguarda, Piazza Ospedale Maggiore 3, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-019-03774-xDOI Listing
August 2019

Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2018 02 1;19(1-2):93-101. Epub 2017 Sep 1.

c Medical Genetics Unit, Department of Laboratory Medicine , ASST Grande Ospedale Metropolitano Niguarda , Milan , Italy , and.

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https://www.tandfonline.com/doi/full/10.1080/21678421.2017.1
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http://dx.doi.org/10.1080/21678421.2017.1367401DOI Listing
February 2018

Serum Proteome in a Sporadic Amyotrophic Lateral Sclerosis Geographical Cluster.

Proteomics Clin Appl 2017 Dec 25;11(11-12). Epub 2017 Sep 25.

Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy.

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http://dx.doi.org/10.1002/prca.201700043DOI Listing
December 2017

Blood trace metals in a sporadic amyotrophic lateral sclerosis geographical cluster.

Biometals 2017 06 23;30(3):355-365. Epub 2017 Mar 23.

Department of Food, Environmental and Nutritional Sciences (DEFENS), Division of Chemical and Biomolecular Sciences, University of Milan, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10534-017-0011-4DOI Listing
June 2017

A CGH array procedure to detect PAX6 gene structural defects.

Mol Cell Probes 2017 04 2;32:65-68. Epub 2016 Dec 2.

Istituto di Genetica Medica, Azienda Ospedaliero-Universitaria di Udine, Italy; Dipartimento di Scienze Mediche e Biologiche, Università di Udine, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2016.12.001DOI Listing
April 2017

Are granular osmiophilic material deposits an epiphenomenon in CADASIL?

Folia Neuropathol 2015 ;53(2):168-71

Prof. Paolo Barone, University of Salerno, Center for Neurodegenerative Disease - CEMAND, Via S. Allende. 84081 Baronissi (SA), phone: (+39)089-969119, fax: (+39)089-672328, e-mail:

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December 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.

J Dermatol 2016 Aug 20;43(8):962-3. Epub 2016 Feb 20.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.

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http://doi.wiley.com/10.1111/1346-8138.13317
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http://dx.doi.org/10.1111/1346-8138.13317DOI Listing
August 2016

Nicolaides-Baraitser syndrome: defining a phenotype.

J Neurol 2016 Aug 10;263(8):1659-60. Epub 2016 Jun 10.

Neurodegenerative Disease Unit, Department of Medical, Surgical, and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-016-8194-0DOI Listing
August 2016

Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry.

Stroke 2016 07 31;47(7):1702-9. Epub 2016 May 31.

From the Department of Cerebrovascular Disease, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy (A.B., G.B.B., E.A.P., N.T.); Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Department of Bio-Medical Informatics, University of Pavia, Pavia, Italy (S.Q.); Department of Inherited Cardiovascular Disease, Foundation IRCCS Policlinico San Matteo, Pavia, Italy (E.A., M.G.); Neurology Unit, Department of Neuroscience and Sensory Organs, Maggiore Policlinico Hospital Foundation IRCCS Ca' Granda, Milan, Italy (S.L., L.C.); Neurology and Stroke Unit, Department of Urgency (G.M., A.C.), Department of Genetics (C.C., G.G.), and Brain MRI 3T Research Center (P.V.), IRCCS Foundation Casimiro Mondino Neurological Institute, Pavia, Italy; Department of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Foundation C, Besta Neurological Institute, Milan, Italy (F.T., C.G., S.B.); Department of Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy (S.P., L.M.); Department of Genomics for Human Disease Diagnosis and Laboratory of Clinical Molecular Biology, IRCCS San Raffaele hospital, Milan, Italy (P.C., M.F.); University Vita-Salute, Milano, Italy (M.F.); Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Milan, Italy (S.C., D.R., G.P.C.); Neurology Unit, Department of Neuroscience and Sensory Organs, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico Milan, Milan, Italy (S.C., D.R., G.P.C.); Department of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy (M.T.B.); Center for amyloidosis, Department of medical Thecnologies, IRCCS Foundation San Matteo Policlinico, Pavia, Italy (L.O., G.M.); Vascular Neurology - Spedali Civili, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy (A. Pezzini, A. Padovani); Stroke Unit, Departmen

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http://dx.doi.org/10.1161/STROKEAHA.115.012281DOI Listing
July 2016

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

J Dermatol Sci 2016 Mar 28;81(3):208-9. Epub 2015 Nov 28.

Medical Genetics Unit-Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.11.012DOI Listing
March 2016

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Eur J Med Genet 2015 Feb 23;58(2):66-70. Epub 2014 Dec 23.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.005DOI Listing
February 2015

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.

Neurobiol Aging 2015 Jan 27;36(1):547.e5-11. Epub 2014 Aug 27.

Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca'Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.08.021DOI Listing
January 2015

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.

J Mol Neurosci 2014 Dec 10;54(4):723-9. Epub 2014 May 10.

Department of Laboratory Medicine, Medical Genetics Unit, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-014-0311-xDOI Listing
December 2014

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion.

Case Rep Neurol Med 2014 17;2014:216094. Epub 2014 Jul 17.

Section of Neurology, Ospedale San Gerardo and DCMT, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Via Pergolesi 33, 20900 Monza, Italy.

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http://dx.doi.org/10.1155/2014/216094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4124810PMC
August 2014

Letter by Moccia et al regarding article, "Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism".

Stroke 2014 Jul 27;45(7):e128. Epub 2014 May 27.

Center for Neurodegenerative Diseases (CEMAND), Neuroscience Section, Department of Medicine, University of Salerno, Salerno, Italy.

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http://dx.doi.org/10.1161/STROKEAHA.114.005593DOI Listing
July 2014

Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

J Neurol Neurosurg Psychiatry 2014 May 6;85(5):478-85. Epub 2013 Jul 6.

Department of Neuroscience, ALS Center, 'Rita Levi Montalcini', University of Torino, Torino, and Azienda Ospedaliera Città della Salute e della Scienza, , Torino, Italy.

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http://jnnp.bmj.com/content/early/2013/07/05/jnnp-2013-30554
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http://jnnp.bmj.com/cgi/doi/10.1136/jnnp-2013-305546
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http://dx.doi.org/10.1136/jnnp-2013-305546DOI Listing
May 2014

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.

Gene 2014 Mar 18;537(1):79-84. Epub 2013 Dec 18.

Medical Genetics Unit, Department of Laboratory Medicine, Niguarda Ca' Granda Hospital, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.11.102DOI Listing
March 2014

Progressive parkinsonism, balance difficulties, and supranuclear gaze palsy.

JAMA Neurol 2014 Jan;71(1):104-7

University of Salerno, Center for Neurodegenerative Diseases-CEMAND, Salerno, Italy.

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http://dx.doi.org/10.1001/jamaneurol.2013.5149DOI Listing
January 2014

Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.

J Mol Neurosci 2013 Oct 5;51(2):442-5. Epub 2013 Jul 5.

Plastic Surgery Department, S. Andrea Hospital, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy,

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http://dx.doi.org/10.1007/s12031-013-0053-1DOI Listing
October 2013

Role of XPC, XPD, XRCC1, GSTP genetic polymorphisms and Barrett's esophagus in a cohort of Italian subjects. A neural network analysis.

Clin Exp Gastroenterol 2012 8;5:159-66. Epub 2012 Aug 8.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://dx.doi.org/10.2147/CEG.S32610DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3418826PMC
October 2012

De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations.

J Mol Neurosci 2012 Jul 14;47(3):475-80. Epub 2012 Mar 14.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-012-9741-5DOI Listing
July 2012

p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.

Metabolism 2012 Apr 19;61(4):519-24. Epub 2011 Oct 19.

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Largo A. Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1016/j.metabol.2011.08.008DOI Listing
April 2012

Is the SHRSP [corrected] strain a suitable model of spontaneous CADASIL?

J Mol Neurosci 2012 Feb 2;46(2):427-30. Epub 2011 Aug 2.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Piazza Ospedale Maggiore 3, 20162, Milan, Italy.

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http://dx.doi.org/10.1007/s12031-011-9605-4DOI Listing
February 2012

No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population.

Neurobiol Aging 2012 Jan 25;33(1):208.e7-8. Epub 2011 Aug 25.

Department of Neurological, Neurosurgical and Behavioural Sciences, Neurology Section, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.07.010DOI Listing
January 2012

Genetic variability of the fructosamine 3-kinase gene in diabetic patients.

Clin Chem Lab Med 2011 May 3;49(5):803-8. Epub 2011 Feb 3.

Laboratorio di Genetica Medica, Ospedale Niguarda Ca' Granda, Milano, Italy.

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http://dx.doi.org/10.1515/CCLM.2011.133DOI Listing
May 2011

Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.

J Mol Neurosci 2010 Oct 24;42(2):235-42. Epub 2010 Apr 24.

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://link.springer.com/10.1007/s12031-010-9360-y
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http://dx.doi.org/10.1007/s12031-010-9360-yDOI Listing
October 2010

Cavernous malformation of the optic nerve mimicking optic neuritis.

J Neuroophthalmol 2010 Jun;30(2):126-31

Unit of Neuroimaging and Neurointervention, Department of Neurosciences, Azienda Ospedaliera Universitaria Senese, Policlinico "Santa Maria alle Scotte," Viale Mario Bracci, 16, 53100 Siena, Italy.

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http://dx.doi.org/10.1097/WNO.0b013e3181ceb428DOI Listing
June 2010

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.

J Neurosurg 2009 May;110(5):929-34

Department of Laboratory Medicine, Medical Genetics, Niguarda Ca' Granda Hospital Milano, Piazza Ospedale Maggiore 3, 20162 Milan, Italy.

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http://dx.doi.org/10.3171/2008.8.17640DOI Listing
May 2009

Familial cerebral cavernous malformation: report of a further Italian family.

Neurol Sci 2009 Apr 30;30(2):143-7. Epub 2009 Jan 30.

Department of Neurological and Psychiatric Sciences, University of Florence, Viale Morgagni 85, 50134, Florence, Italy.

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http://link.springer.com/content/pdf/10.1007/s10072-009-0020
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http://link.springer.com/10.1007/s10072-009-0020-3
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http://dx.doi.org/10.1007/s10072-009-0020-3DOI Listing
April 2009

Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.

Hum Genet 2008 Oct;124(3):294

Ospedale Niguarda, MI, Pza Ospedale maggiore, 3, 20162 Milan, Italy.

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October 2008

New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

BMC Bioinformatics 2008 May 30;9:254. Epub 2008 May 30.

Medical Genetics, Clinical Chemistry and Clinical Pathology Laboratory, Niguarda Ca' Granda Hospital P.za Ospedale Maggiore 3, 20100 Milan, Italy.

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http://dx.doi.org/10.1186/1471-2105-9-254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443147PMC
May 2008

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Neurogenetics 2008 Feb 1;9(1):25-31. Epub 2007 Dec 1.

Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1007/s10048-007-0109-xDOI Listing
February 2008

Variations in the coding and regulatory sequences of the angiogenin (ANG) gene are not associated to ALS (amyotrophic lateral sclerosis) in the Italian population.

J Neurol Sci 2007 Jul 25;258(1-2):123-7. Epub 2007 Apr 25.

Laboratory of Human Genetics, Department of Medical Sciences and IRCAD (Interdisciplinary Research Center of Autoimmune Diseases), Eastern Piedmont University, Novara, Italy.

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http://dx.doi.org/10.1016/j.jns.2007.03.009DOI Listing
July 2007

A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.

Amyloid 2007 Jun;14(2):141-5

Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-0811, Japan.

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http://dx.doi.org/10.1080/13506120701259895DOI Listing
June 2007

Does Down's syndrome support the homocysteine theory of atherogenesis? Experience in elderly subjects with trisomy 21.

Arch Gerontol Geriatr 2006 Nov-Dec;43(3):381-7. Epub 2006 Mar 14.

Department of Experimental Pathology, Laboratory of Immunology, School of Medicine, University of Bologna, Via S. Giacomo 14, 40126 Bologna, Italy.

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http://dx.doi.org/10.1016/j.archger.2006.01.003DOI Listing
January 2007

An Italian dominant FALS Leu144Phe SOD1 mutation: genotype-phenotype correlation.

Amyotroph Lateral Scler Other Motor Neuron Disord 2003 Sep;4(3):167-70

Department of Oncology, Biology and Genetics University of Genova, Genova, Italy.

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September 2003