Simona Orcesi

Simona Orcesi

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Simona Orcesi

Publications by authors named "Simona Orcesi"

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Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Stem Cell Res 2019 Oct 22;41:101620. Epub 2019 Oct 22.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101620DOI Listing
October 2019

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Stem Cell Res 2019 Oct 22;41:101623. Epub 2019 Oct 22.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; "Angelo Nocivelli" Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101623DOI Listing
October 2019

Developmental Outcomes of Aicardi Goutières Syndrome.

J Child Neurol 2019 Sep 27:883073819870944. Epub 2019 Sep 27.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/0883073819870944DOI Listing
September 2019

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Stem Cell Res 2019 Sep 14;41:101580. Epub 2019 Sep 14.

"Angelo Nocivelli" Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, Italy, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.scr.2019.101580DOI Listing
September 2019

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome.

Eur J Paediatr Neurol 2018 Mar 31;22(2):336-339. Epub 2018 Jan 31.

Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.007DOI Listing
March 2018

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

An Italian Prospective Experience on the Association Between Congenital Cytomegalovirus Infection and Autistic Spectrum Disorder.

J Autism Dev Disord 2017 May;47(5):1490-1495

Neonatal Immunology Laboratory, Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, 27100, Pavia, Italy.

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http://dx.doi.org/10.1007/s10803-017-3050-3DOI Listing
May 2017

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.

J Clin Immunol 2016 10 18;36(7):693-9. Epub 2016 Aug 18.

Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1007/s10875-016-0325-yDOI Listing
October 2016

Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.

Dev Med Child Neurol 2016 09 7;58(9):957-64. Epub 2016 Apr 7.

Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.

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http://dx.doi.org/10.1111/dmcn.13122DOI Listing
September 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

Legius Syndrome: two novel mutations in the SPRED1 gene.

Hum Genome Var 2015 3;2:15051. Epub 2015 Dec 3.

Laboratory of Experimental Neurobiology, 'C. Mondino' National Neurological Institute , Pavia, Italy.

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http://dx.doi.org/10.1038/hgv.2015.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785569PMC
April 2016

Complexity of parental prenatal attachment during pregnancy at risk for preterm delivery.

J Matern Fetal Neonatal Med 2016 Mar 9;29(5):771-6. Epub 2015 Mar 9.

a Neonatal Intensive Care Unit, IRCCS Foundation Policlinico San Matteo , Pavia , Italy .

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http://dx.doi.org/10.3109/14767058.2015.1017813DOI Listing
March 2016

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Eur J Paediatr Neurol 2016 Mar 28;20(2):323-330. Epub 2015 Nov 28.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2015.11.006DOI Listing
March 2016

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

Neurology 2016 Jan 18;86(1):28-35. Epub 2015 Nov 18.

From the Department of Neuroradiology (R.L.P.) and Laboratory of Neurogenetics of Motion (R.L.P.), Montreal Neurological Institute and Hospital, McGill University, Canada; Unit of Neuroradiology (C.U.), Department of Radiology, San Carlo Borromeo Hospital, Milan, Italy; Public Health Research Institute of the University of Montreal (F.R.), Canada; Department of Neurology (A.V., G.H.), Children's National Health System, Washington, DC; Child Neurology and Psychiatry Unit (I.O., U.B., S.O.), C. Mondino National Neurological Institute, Pavia; Unit of Child Neurology and Psychiatry (D.T., U.B.), Department of Brain and Behavioural Sciences, University of Pavia; Department of Child Neurology (D.T.), Fondazione IRCCS Istituto Neurologico "Carlo Besta," Milan; Department of Clinical and Experimental Sciences (E.F.), Civil Hospital and University of Brescia, Italy; Imagine Institute (Y.J.C.), Paris Descartes University, INSERM UMR 1163, Paris, France; Manchester Centre for Genomic Medicine (Y.J.C.), Manchester Academic Health Sciences Centre, University of Manchester; and the Department of Paediatric Neurology (J.L.), Leeds Teaching Hospitals NHS Trust, UK.

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http://www.neurology.org/content/86/1/28.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000222
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000002228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731289PMC
January 2016

Obstetric risk factors and time trends of neurodevelopmental outcome at 2 years in very-low-birthweight infants: a single institution study.

Dev Med Child Neurol 2015 Nov 4;57(11):1035-41. Epub 2015 Aug 4.

Department of Obstetrics and Gynecology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1111/dmcn.12859DOI Listing
November 2015

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Ann Rheum Dis 2015 Oct 6;74(10):1931-9. Epub 2014 Jun 6.

Department of Experimental Immunology, Academic Medical Center, University of Amsterdam (UvA), Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/annrheumdis-2014-205396DOI Listing
October 2015

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.

Am J Med Genet A 2015 Apr 23;167A(4):810-5. Epub 2015 Feb 23.

Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36907DOI Listing
April 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Risk and protective factors in maternal-fetal attachment development.

Early Hum Dev 2014 Sep;90 Suppl 2:S45-6

Neonatal Intensive Care Unit, IRCCS Foundation Policlinico San Matteo, Pavia, Italy.

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http://dx.doi.org/10.1016/S0378-3782(14)50012-6DOI Listing
September 2014

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

Am J Med Genet A 2014 Mar 20;164A(3):815-9. Epub 2013 Dec 20.

Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36360DOI Listing
March 2014

A new self-report quality of life questionnaire for children with neuromuscular disorders: presentation of the instrument, rationale for its development, and some preliminary results.

J Child Neurol 2014 Feb 18;29(2):167-81. Epub 2013 Dec 18.

1Unit of Child Neurology and Psychiatry, C. Mondino National Neurological Institute, Pavia, Italy.

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http://dx.doi.org/10.1177/0883073813511859DOI Listing
February 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome.

Clin Dev Immunol 2012 11;2012:206730. Epub 2012 Nov 11.

Department of Neurology, Children's National Medical Center, Washington, DC 20010, USA.

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http://dx.doi.org/10.1155/2012/206730DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508752PMC
August 2013

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.

Neuropediatrics 2013 Aug 24;44(4):213-7. Epub 2013 Jan 24.

Department of Child Neurology and Psychiatry Unit, IRCCS, C. Mondino National Institute of Neurology, Foundation, Pavia, Italy.

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http://dx.doi.org/10.1055/s-0032-1333440DOI Listing
August 2013

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

Autoimmun Rev 2013 Feb 24;12(4):506-9. Epub 2012 Aug 24.

Child Neurology and Psychiatry Unit, Mother-Child Department, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1016/j.autrev.2012.08.012DOI Listing
February 2013

Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007.

Eur J Paediatr Neurol 2012 Nov 17;16(6):716-23. Epub 2012 Jun 17.

Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2012.05.006DOI Listing
November 2012

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

Neuropediatrics 2012 Oct 29;43(5):283-8. Epub 2012 Aug 29.

Child Neurology and Psychiatry Unit, C. Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0032-1325116
Publisher Site
http://dx.doi.org/10.1055/s-0032-1325116DOI Listing
October 2012

Calcifying leukoencephalopathies: new overlapping phenotypes.

Am J Med Genet A 2012 Apr 14;158A(4):964-5. Epub 2012 Mar 14.

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http://dx.doi.org/10.1002/ajmg.a.35242DOI Listing
April 2012

Spinal cord calcification in an early-onset progressive leukoencephalopathy.

J Child Neurol 2011 Jul 22;26(7):876-80. Epub 2011 Mar 22.

Child Neurology and Psychiatry Unit, IRCCS C. Mondino National Institute of Neurology Foundation, Pavia, Italy.

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http://dx.doi.org/10.1177/0883073810390038DOI Listing
July 2011

Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma.

Epileptic Disord 2010 Sep 15;12(3):233-5. Epub 2010 Jul 15.

Department of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1684/epd.2010.0322DOI Listing
September 2010

New case of 4H syndrome and a review of the literature.

Pediatr Neurol 2010 May;42(5):359-64

Department of Child Neurology and Psychiatry, IRCCS C. Mondino Institute of Neurology Foundation, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.01.015DOI Listing
May 2010

Sleep disturbances in visually impaired toddlers.

Brain Dev 2008 Oct;30(9):572-8

Department of Child Neurology and Psychiatry-Regional Centre of Child Neurophthalmology, IRCCS C. Mondino Institute of Neurology, Via Mondino 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.braindev.2008.01.008DOI Listing
October 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample.

Funct Neurol 2006 Jul-Sep;21(3):151-8

Department of Child Neurology and Psychiatry, Regional Centre of Child Neurophthalmology, IRCCS C. Mondino Institute of Neurology Foundation Pavia, Italy.

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December 2006

Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case.

J Child Neurol 2006 Jan;21(1):79-82

Department of Child Neurology and Psychiatry, Regional Referral Center for Neuromuscular Disorders in Childhood IRCCS C. Mondino Foundation, University of Pavia, Italy.

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http://dx.doi.org/10.1177/08830738060210010901DOI Listing
January 2006

Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy.

Eur Radiol 2002 Nov 8;12(11):2704-9. Epub 2002 May 8.

Department of Neuroradiology, Istituto Neurologico Fondazione C. Mondino I.R.C.C.S, Via Palestro, 3, 27100 Pavia, Italy.

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http://dx.doi.org/10.1007/s00330-002-1392-4DOI Listing
November 2002