Elisa Fazzi

Elisa Fazzi

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Elisa Fazzi

Publications by authors named "Elisa Fazzi"

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Novel and emerging treatments for Aicardi-Goutières syndrome.

Expert Rev Clin Immunol 2020 Feb 6;16(2):189-198. Epub 2020 Jan 6.

Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1080/1744666X.2019.1707663DOI Listing
February 2020

Questionnaires as screening tools for children with cerebral visual impairment.

Dev Med Child Neurol 2020 Feb 21. Epub 2020 Feb 21.

Unit of Child Neurology and Psychiatry, ASST Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1111/dmcn.14497DOI Listing
February 2020

Developmental Outcomes of Aicardi Goutières Syndrome.

J Child Neurol 2020 Jan 27;35(1):7-16. 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
January 2020

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

Stem Cell Res 2019 12 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
December 2019

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

Stem Cell Res 2019 12 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
December 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 12 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
December 2019

Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.

Dev Med Child Neurol 2019 11 10;61(11):1348. Epub 2019 Jun 10.

Department of Clinical and Biomedical Sciences L. Sacco, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/dmcn.14275DOI Listing
November 2019

Visuospatial Attention and Saccadic Inhibitory Control in Children With Cerebral Palsy.

Front Hum Neurosci 2019 8;13:392. Epub 2019 Nov 8.

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

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http://dx.doi.org/10.3389/fnhum.2019.00392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856641PMC
November 2019

Long-term outcome of children born from mothers with autoimmune diseases.

Best Pract Res Clin Obstet Gynaecol 2019 Nov 13. Epub 2019 Nov 13.

Rheumatology and Immunology Unit, Department of Clinical and Experimental Sciences, University of Brescia and ASST Spedali Civili of Brescia, Piazzale Spedali Civili 1, 25123, Brescia, Italy.

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http://dx.doi.org/10.1016/j.bpobgyn.2019.11.003DOI Listing
November 2019

Cerebral Visual Impairment and Clinical Assessment: The European Perspective.

Semin Pediatr Neurol 2019 10 11;31:15-24. Epub 2019 May 11.

Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, and Neurodisability Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology, University Hospitals Leuven, Belgium.

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http://dx.doi.org/10.1016/j.spen.2019.05.004DOI Listing
October 2019

Autism in Children With Cerebral and Peripheral Visual Impairment: Fact or Artifact?

Semin Pediatr Neurol 2019 10 11;31:57-67. Epub 2019 May 11.

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

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http://dx.doi.org/10.1016/j.spen.2019.05.008DOI Listing
October 2019

Abstracts of the 47th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique)-Paris, March 22-23, 2019.

Authors:
Elisa Fazzi

Neuropediatrics 2019 Mar 26;50(S 01):e1. Epub 2019 Mar 26.

Unit of Child Neurology and Psychiatry, Civil Hospital, Department of Clinical and Experimental Sciences, University of Brescia, Italy.

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http://dx.doi.org/10.1055/s-0039-1685144DOI Listing
March 2019

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.

Orphanet J Rare Dis 2019 02 28;14(1):61. Epub 2019 Feb 28.

Clinical and Experimental Sciences Department, University of Brescia, c/o ASST Spedali Civili, 25123, Brescia, Italy.

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http://dx.doi.org/10.1186/s13023-019-1030-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396443PMC
February 2019

Social Cognition in Down Syndrome: Face Tuning in Face-Like Non-Face Images.

Front Psychol 2018 18;9:2583. Epub 2018 Dec 18.

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

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http://dx.doi.org/10.3389/fpsyg.2018.02583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305370PMC
December 2018

White matter changes associated with cognitive visual dysfunctions in children with cerebral palsy: A diffusion tensor imaging study.

J Neurosci Res 2018 11 12;96(11):1766-1774. Epub 2018 Jun 12.

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

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http://dx.doi.org/10.1002/jnr.24307DOI Listing
November 2018

Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.

Seizure 2018 Oct 18;61:1-3. Epub 2018 Jul 18.

Child Neurology and Psychiatry Unit, ASST Civil Hospital -Brescia, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183024
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http://dx.doi.org/10.1016/j.seizure.2018.07.009DOI Listing
October 2018

Music reduces pain perception in healthy newborns: A comparison between different music tracks and recoded heartbeat.

Early Hum Dev 2018 09 2;124:7-10. Epub 2018 Aug 2.

Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.earlhumdev.2018.07.006DOI Listing
September 2018

Abstracts of the 46th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)-Barcelona April 27th to 28th, 2018.

Authors:
Elisa Fazzi

Neuropediatrics 2018 Apr 27;49(S 01):e1. Epub 2018 Apr 27.

Unit of Child Neurology and Psychiatry, Civil Hospital, Department of Clinical and Experimental Sciences, University of Brescia, Italy.

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http://dx.doi.org/10.1055/s-0038-1651485DOI Listing
April 2018

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Eur J Paediatr Neurol 2018 Mar 16;22(2):332-335. Epub 2017 Dec 16.

Child Neurology Unit, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.11.012DOI Listing
March 2018

Neurovisual Assessment in Children with Ataxia Telangiectasia.

Neuropediatrics 2018 02 9;49(1):26-34. Epub 2017 Oct 9.

Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1055/s-0037-1607216DOI Listing
February 2018

Neonatal Assessment Visual European Grid (NAVEG): Unveiling neurological risk.

Infant Behav Dev 2017 11 5;49:21-30. Epub 2017 Jul 5.

Child and Adolescent Neurology and Psychiatry Unit, Children Hospital, ASST Spedali Civili of Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Italy.

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http://dx.doi.org/10.1016/j.infbeh.2017.06.002DOI Listing
November 2017

Social cognition in autism: Face tuning.

Sci Rep 2017 05 26;7(1):2734. Epub 2017 May 26.

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

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http://dx.doi.org/10.1038/s41598-017-02790-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457440PMC
May 2017

Recommendations for the rehabilitation of children with cerebral palsy.

Eur J Phys Rehabil Med 2016 Oct 1;52(5):691-703. Epub 2015 Dec 1.

Bambino Gesù Institute for Scientific Research and Children's Hospital, Rome, Italy -

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October 2016

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

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
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http://dx.doi.org/10.1212/WNL.0000000000002228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731289PMC
January 2016

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Neurol Neuroimmunol Neuroinflamm 2015 Jun 9;2(3):e98. Epub 2015 Apr 9.

Department of Pediatrics, Child Neurology and Psychiatry (V.L., D.D., T.V.), Department of Molecular Medicine (I.Q.), and Department of Clinical and Molecular Medicine (L.C.), Sapienza University of Rome, Italy; Unit of Child Neurology and Psychiatry (R.M., E.F.), Department of Clinical and Experimental Sciences, Pediatrics Clinic (A.P., A.S., M. Marini, P.F.L.), and Institute of Molecular Medicine A. Nocivelli (A.P., A.S., M. Marini, P.F.L.), Spedali Civili and University of Brescia, Brescia, Italy; School in Reproductive and Developmental Science (A.M.), University of Trieste and University of Brescia, Brescia, Italy; Department of Pediatrics (M.C.P.), University of Milan, Fondazione IRCCS Ca' Granda, Milan, Italy; Department of Pediatrics (A.F.), Bambino Gesù Children's Hospital and University of Tor Vergata, Rome, Italy; Department of Biomolecular Sciences (M. Magnani), University of Urbino "Carlo Bo," Urbino, Italy; and EryDel SpA (M. Magnani), Urbino, Italy.

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http://dx.doi.org/10.1212/NXI.0000000000000098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396528PMC
June 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

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

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

Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.

Rheumatol Int 2013 Aug 8;33(8):2045-52. Epub 2013 Feb 8.

Child and Adolescent Mental Health, San Gerardo Hospital, University of Milan Bicocca, Via Pergolesi 33, 20900 Monza, Italy.

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http://dx.doi.org/10.1007/s00296-013-2685-4DOI 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

Improving upper limb motor functions through action observation treatment: a pilot study in children with cerebral palsy.

Dev Med Child Neurol 2012 Sep 6;54(9):822-8. Epub 2012 Jul 6.

Department of Medical and Surgical Sciences, Università Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2012.04334.xDOI Listing
September 2012

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects.

Dev Med Child Neurol 2012 Aug 19;54(8):730-6. Epub 2012 Jun 19.

Child Neurology and Psychiatry Unit, Mother-Child Department, Civil Hospital, University of Brescia, Brescia, Italy.

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http://doi.wiley.com/10.1111/j.1469-8749.2012.04324.x
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http://dx.doi.org/10.1111/j.1469-8749.2012.04324.xDOI Listing
August 2012

Reach on sound: a key to object permanence in visually impaired children.

Early Hum Dev 2011 Apr 12;87(4):289-96. Epub 2011 Feb 12.

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

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http://dx.doi.org/10.1016/j.earlhumdev.2011.01.032DOI Listing
April 2011

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

Cognitive visual dysfunctions in preterm children with periventricular leukomalacia.

Dev Med Child Neurol 2009 Dec 9;51(12):974-81. Epub 2009 Mar 9.

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

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http://dx.doi.org/10.1111/j.1469-8749.2009.03272.xDOI Listing
December 2009

Infant sex, obstetric risk factors, and 2-year neurodevelopmental outcome among preterm infants.

Dev Med Child Neurol 2009 Jul 11;51(7):518-25. Epub 2009 Mar 11.

University of Pavia, Department of Obstetrics and Gynecology, IRCCS Fondazione Policlinico San Matteo, P le Golgi, 25, Pavia 27100, Italy.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03273.xDOI Listing
July 2009

Multisite trial on efficacy of constraint-induced movement therapy in children with hemiplegia: study design and methodology.

Am J Phys Med Rehabil 2009 Mar;88(3):216-30

Epidemiology and Community Medicine Unit Pediatrics Department, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1097/PHM.0b013e3181951382DOI Listing
March 2009

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

Analysis of the correlation between three methods used in the assessment of children with cerebral palsy.

Funct Neurol 2007 Jan-Apr;22(1):17-21

Department of Bioengineering, Polytechnic of Milan, Italy.

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August 2007

The development of visual object recognition in school-age children.

Dev Neuropsychol 2007 ;31(1):79-102

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

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http://dx.doi.org/10.1207/s15326942dn3101_5DOI Listing
May 2007

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Hum Mutat 2007 Apr;28(4):416

Unité de Recherches en Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement, INSERM U78, Hôpital des Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/humu.9485DOI Listing
April 2007

Spectrum of visual disorders in children with cerebral visual impairment.

J Child Neurol 2007 Mar;22(3):294-301

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

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http://dx.doi.org/10.1177/08830738070220030801DOI Listing
March 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

Neurochemical evidence to implicate elevated glutamate in the mechanisms of high intraocular pressure (IOP)-induced retinal ganglion cell death in rat.

Neurotoxicology 2005 Oct 26;26(5):935-41. Epub 2005 Aug 26.

Physiopathological Optics, Department of Biopathology, University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1016/j.neuro.2005.06.002DOI Listing
October 2005

Factors predicting the efficacy of botulinum toxin-A treatment of the lower limb in children with cerebral palsy.

J Child Neurol 2005 Aug;20(8):661-6

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

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http://dx.doi.org/10.1177/08830738050200080501DOI Listing
August 2005

Prognostic value of umbilical artery Doppler studies in unselected preterm deliveries.

Obstet Gynecol 2005 Mar;105(3):613-20

Departments of Obstetrics and Gynecology, Neonatal Intensive Care, and Child Neuropsychiatry, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia, Italy.

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http://pdfs.journals.lww.com/greenjournal/2005/03000/Prognos
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http://dx.doi.org/10.1097/01.AOG.0000152382.13490.18DOI Listing
March 2005

Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings.

Am J Med Genet A 2005 Jan;132A(1):13-9

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

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http://doi.wiley.com/10.1002/ajmg.a.30301
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http://dx.doi.org/10.1002/ajmg.a.30301DOI Listing
January 2005

Visual-perceptual impairment in children with periventricular leukomalacia.

Brain Dev 2004 Dec;26(8):506-12

Department of Child Neuropsychiatry, IRCSS C. Mondino Foundation, via Ferrata, 6, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.braindev.2004.02.002DOI Listing
December 2004

Obstetric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants.

BJOG 2004 Sep;111(9):913-8

Department of Obstetrics and Gynecology, IRCCS Policlinico S. Matteo, University of Pavia, Piazzale Golgi 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1111/j.1471-0528.2004.00229.xDOI Listing
September 2004

Two-year infant neurodevelopmental outcome after single or multiple antenatal courses of corticosteroids to prevent complications of prematurity.

Am J Obstet Gynecol 2004 Jul;191(1):217-24

Department of Obstetrics and Gynecology, University of Pavia, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico S. Matteo, Pavia, Italy.

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http://dx.doi.org/10.1016/j.ajog.2003.12.023DOI Listing
July 2004

Fetal growth and infant neurodevelopmental outcome after preterm premature rupture of membranes.

Obstet Gynecol 2004 Jun;103(6):1286-93

Department of Obstetrics and Gynecology, University of Pavia, IRCCS Policlinico S. Matteo, Piazzale Golgi, 27100 Pavia, Italy.

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http://dx.doi.org/10.1097/01.AOG.0000127706.78192.95DOI Listing
June 2004

Aicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis.

Funct Neurol 2003 Apr-Jun;18(2):71-5

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

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October 2003

Leber's congenital amaurosis: an update.

Eur J Paediatr Neurol 2003 ;7(1):13-22

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

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http://dx.doi.org/10.1016/s1090-3798(02)00135-6DOI Listing
May 2003

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

Eur J Paediatr Neurol 2002 ;6 Suppl A:A9-22; discussion A23-5, A77-86

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

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http://dx.doi.org/10.1053/ejpn.2002.0568DOI Listing
February 2003

Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards.

Funct Neurol 2002 Apr-Jun;17(2):87-92

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

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November 2002

Gross motor development and reach on sound as critical tools for the development of the blind child.

Brain Dev 2002 Aug;24(5):269-75

Department of Child Neurology and Psychiatry, IRCCS C. Mondino, University of Pavia, IRCCS, Via Palestro 3, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/s0387-7604(02)00021-9DOI Listing
August 2002