Elena Fontana

Elena Fontana

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Elena Fontana

Elena Fontana

Publications by authors named "Elena Fontana"

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EEG features in Encephalopathy related to Status Epilepticus during slow Sleep.

Epileptic Disord 2019 Jun;21(S1):22-30

Department of Child Neuropsychiatry, Department of Life and Reproduction Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1684/epd.2019.1054DOI Listing
June 2019

Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.

J Allergy Clin Immunol 2018 09 11;142(3):928-941.e8. Epub 2017 Dec 11.

San Raffaele Telethon Institute for Gene Therapy (TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081264PMC
September 2018

The phenotype of developmental and epileptic encephalopathy.

Neurology 2018 09 31;91(12):e1112-e1124. Epub 2018 Aug 31.

From the Department of Clinical Neurophysiology (E.G., S.B.), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (E.G., K.M.J., R.S.M.), University of Southern Denmark, Odense, Denmark; Neuroscience Department (C.M., R.G., M.M.), Children's Hospital A. Meyer, University of Florence; Department of Neuroscience (M.T., N.S., F.V.), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Division of Neurology (M.P.F., I.H.), The Children's Hospital of Philadelphia; Departments of Pediatrics and Neurology (M.P.F., I.H.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Universitätskinderklinik Tübingen (M.A., M.W.), Germany; Department of Neurology (K.H.), Royal Children's Hospital Melbourne; Department of Paediatrics (K.H.), University of Melbourne; Australia Neurosciences Group (K.H.), Murdoch Children's Research Institute, Melbourne, Australia; Servizio di Neuropsichiatria Infantile (F.D., E.F.), Policlinico G.B. Rossi, Universita Degli Studi di Verona; Department of Child Neurology (S.S., G.A.), Ospedale Pediatrico G. Salesi-Ospedali Riuniti, Ancona, Italy; Division of Clinical Neurophysiology (B.B.), Children's Research Center, University Children's Hospital Zurich, Switzerland; Brain and Behaviour Department (S.M.), University of Pavia; Department of Pediatric Neuroradiology (A.P.), IRCCS "C. Mondino" National Neurological Institute, Pavia, Italy; Department of Epilepsy Genetics (K.J., R.S.M.), Danish Epilepsy Centre Dianalund; Department of Child Neurology (B.J.), Danish Epilepsy Centre, Dianalund, Denmark; Cytogenetic and Molecular Genetic Laboratory (S.R., F.C.), Istituto Auxologico Italiano, IRCCS, Milano, Italy; Department of Adult Neurology (G.R.), Danish Epilepsy Centre, Dianalund; University of Copenhagen (G.R.), Denmark; Struttura Complessa di Neurologia Pediatrica Ospedale Vittore Buzzi (P.V.), Milano; Dipartimento di Scienze Biomediche e Cliniche L. Sacco (P.V.), Università di Milano, Italy; Århus University (S.B.), Denmark; Department of Child Neurology (I.E.S.), University of Melbourne, Austin Health, Florey Institute; and Department of Child Neurology (I.E.S.), The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000006199DOI Listing
September 2018

Central Obesity in Children with Psoriasis.

Acta Derm Venereol 2018 Feb;98(2):282-283

Pediatric Dermatology Unit, Department of Medicine DIMED, University of Padova, Via Gallucci, 4, IT-35128 Padova, Italy.

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http://dx.doi.org/10.2340/00015555-2816DOI Listing
February 2018

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Treatment with anti-FcεRIα antibody exacerbates EAE and T-cell immunity against myelin.

Neurol Neuroimmunol Neuroinflamm 2017 May 14;4(3):e342. Epub 2017 Apr 14.

Department of Clinical Neuroscience (S.M., M. Costanza, R.P.), Foundation Neurological Institute IRCCS C. Besta, Milan; Department of Molecular and Translational Medicine (P.L.P., E.F., M. Cominelli), Pathology Unit, University of Brescia; Department of Experimental Oncology and Molecular Medicine (G.A.), Fondazione IRCCS "Istituto Nazionale dei Tumori," Milan, Italy; and Department of Neurology and Neurological Sciences (L.S.), Stanford University School of Medicine, CA.

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http://dx.doi.org/10.1212/NXI.0000000000000342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5462602PMC
May 2017

Contact Sensitization in Children: A Retrospective Study of 2,614 Children from a Single Center.

Pediatr Dermatol 2016 Jul 31;33(4):399-404. Epub 2016 May 31.

Dermatology Unit, Department of Medicine, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1111/pde.12873DOI Listing
July 2016

CCRL2 regulates M1/M2 polarization during EAE recovery phase.

J Leukoc Biol 2016 06 7;99(6):1027-33. Epub 2016 Jan 7.

Department of Molecular and Translational Medicine, University of Brescia, Italy; and Humanitas Clinical and Research Center, Rozzano, Italy

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http://dx.doi.org/10.1189/jlb.3MA0915-444RRDOI Listing
June 2016

Patch test results in children and adolescents across Europe. Analysis of the ESSCA Network 2002-2010.

Pediatr Allergy Immunol 2015 Aug 5;26(5):446-55. Epub 2015 Jun 5.

Department of Medical Informatics, Biometry and Epidemiology, University of Erlangen/Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1111/pai.12397DOI Listing
August 2015

Critical role for prokineticin 2 in CNS autoimmunity.

Neurol Neuroimmunol Neuroinflamm 2015 Jun 9;2(3):e95. Epub 2015 Apr 9.

Neuroimmunology and Neuromuscular Disorder Unit (M.A.-H., M.C., S.M., R.P.), Neurological Institute Foundation IRCCS Carlo Besta, Milan, Italy; Department of Molecular and Translational Medicine (E.F., P.L.P.), Pathology Unit, University of Brescia, Italy; Institute of Experimental Neurology (M.D.D., M.R., V.M., C.F.), San Raffaele Scientific Institute, Milan, Italy; Department of Life and Environmental Sciences (C.C., V.O., G.B.), Pharmaceutical, Pharmacological and Nutraceutical Sciences Unit, University of Cagliari, Italy; Department of Physiology and Pharmacology Vittorio Erspamer (R.L., L.N.), Sapienza University of Rome, Italy; Department of Chemical and Pharmaceutical Sciences (S.S.), University of Ferrara, Italy; and Department of Neurology (L.S., R.P.), Stanford University School of Medicine, Stanford, CA.

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http://dx.doi.org/10.1212/NXI.0000000000000095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396530PMC
June 2015

IL-10 critically modulates B cell responsiveness in Rankl-/- mice.

J Immunol 2015 May 30;194(9):4144-53. Epub 2015 Mar 30.

Istituto di Ricerca Genetica e Biomedica, Unità Operativa di Milano, Consiglio Nazionale delle Richerche, 20138 Milan, Italy; Humanitas Clinical and Research Center, 20089 Rozzano, Italy;

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http://dx.doi.org/10.4049/jimmunol.1401977DOI Listing
May 2015

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

Epilepsia 2014 Nov 29;55(11):1748-53. Epub 2014 Sep 29.

Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/epi.12803DOI Listing
November 2014

Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein.

PLoS One 2014 23;9(1):e86942. Epub 2014 Jan 23.

TIGET, San Raffaele Scientific Institute, Milan, Italy ; Milan Unit, Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Milan, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086942PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900702PMC
September 2014

Individually tailored extratemporal epilepsy surgery in children: anatomo-electro-clinical features and outcome predictors in a population of 53 cases.

Epilepsy Behav 2012 Sep 17;25(1):68-80. Epub 2012 Aug 17.

Infantile Neurology Service, Complex Unit of Infantile Neuropsychiatry, Niguarda Ca'Granda Hospital, Milan, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2012.05.008DOI Listing
September 2012

Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.

Prog Neurobiol 2012 May 20;97(2):101-26. Epub 2011 Oct 20.

Laboratory of Molecular Neurobiology, Department of Neuroscience, Mario Negri Institute for Pharmacological Research, Via La Masa, 19, 20156 Milano, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S03010082110017
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http://dx.doi.org/10.1016/j.pneurobio.2011.10.001DOI Listing
May 2012

Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotype.

Parkinsonism Relat Disord 2011 Jul 6;17(6):479-81. Epub 2011 May 6.

Dipartimento di Scienze Neurologiche e della Visione, Azienda Ospedaliera-Universitaria Integrata di Verona, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.03.015DOI Listing
July 2011

Critical considerations into the new EMA guideline on bioequivalence.

Arzneimittelforschung 2011 ;61(4):207-20

Clinical Pharmacology Unit, I.P.A.S. SA, Ligornetto, Switzerland.

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http://dx.doi.org/10.1055/s-0031-1296190DOI Listing
June 2011

Electroclinical findings in four patients with karyotype 47,XYY.

Brain Dev 2011 May 16;33(5):384-9. Epub 2010 Sep 16.

Child Neuropsychiatry Unit, University of Verona, Italy.

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http://dx.doi.org/10.1016/j.braindev.2010.07.010DOI Listing
May 2011

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.

Epilepsia 2011 Feb 26;52(2):393-400. Epub 2011 Jan 26.

Department of Neurology, Hospital Nacional de Pediatría Prof Dr Juan P Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02926.xDOI Listing
February 2011

The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS).

Hum Mol Genet 2010 Sep 22;19(17):3440-56. Epub 2010 Jun 22.

Dipartimento di Endocrinologia, Fisiopatologia e Biologia Applicata (Center of Excellence on Neurodegenerative Diseases, CEND), Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1093/hmg/ddq257DOI Listing
September 2010

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Epilepsia 2010 Apr 22;51(4):647-54. Epub 2009 Sep 22.

Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer - University of Florence, Viale Pieraccini 24, Florence, Italy.

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http://doi.wiley.com/10.1111/j.1528-1167.2009.02308.x
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http://dx.doi.org/10.1111/j.1528-1167.2009.02308.xDOI Listing
April 2010

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

Seizure 2009 Jul 5;18(6):440-5. Epub 2009 May 5.

Neurology Department, Hospital Nacional de Pediatría. Prof Dr Juan P Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.seizure.2009.04.004DOI Listing
July 2009

Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis.

Hum Mol Genet 2009 Jan 29;18(1):82-96. Epub 2008 Sep 29.

Laboratory of Molecular Neurobiology, Department of Neuroscience, Mario Negri Institute for Pharmacological Research, Via La Masa, 19, 20156 Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddn319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298865PMC
January 2009

Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations.

Seizure 2008 Oct;17(7):617-24

Neurology Department, National Pediatric Hospital Prof Dr Juan P. Garrahan, Combate de los Pozos 1881, 1245 Buenos Aires, Argentina.

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http://linkinghub.elsevier.com/retrieve/pii/S105913110800069
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http://dx.doi.org/10.1016/j.seizure.2008.03.009DOI Listing
October 2008

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

J Child Neurol 2008 May 29;23(5):497-506. Epub 2008 Jan 29.

Neurology Department, Hospital de Pediatría Prof Dr Juan P. Garrahan, Combate de los Pozos 1881, CP 1245, Buenos Aires, Argentina.

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http://dx.doi.org/10.1177/0883073807309771DOI Listing
May 2008

Myoclonic status in nonprogressive encephalopathies.

Adv Neurol 2005 ;95:59-70

Servizio Neuropsichiatria Infantile, Policlinico G.B. Rossi, Studi di Verona, Verona, Italy.

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December 2004

A case of partial biotinidase deficiency associated with autism.

Child Neuropsychol 2003 Sep;9(3):184-8

Regional Center for Neonatal Congenital Errors of Metabolism, Department of Pediatrics, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1076/chin.9.3.184.16457DOI Listing
September 2003

pH and ionic strength dependence of protein (un)folding and ligand binding to bovine beta-lactoglobulins A and B.

Biochemistry 2002 Dec;41(51):15415-22

Dipartimento di Chimica Inorganica, Metallorganica ed Analitica, Università degli Studi di Milano, via Venezian 21, I-20133 Milano, Italy.

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http://dx.doi.org/10.1021/bi020493fDOI Listing
December 2002