Publications by authors named "Paolo Balestri"

63Publications

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Neuromuscul Disord 2015 Jan 10;25(1):55-9. Epub 2014 Sep 10.

Neuromuscular Disease and Immunology, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.08.007DOI Listing
January 2015

Petechial rash associated with Parvovirus B19 in children: case report and literature review.

Infez Med 2014 Sep;22(3):250-4

Pediatric Unit, Department of Paediatrics, Obstetrics and Reproductive Medicine, University of Siena; Section of Infectious Disease, Department of Medical Biotechnologies, University of Siena, Siena, Italy.

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September 2014

Efficacy and safety of rufinamide in children under four years of age with drug-resistant epilepsies.

Eur J Paediatr Neurol 2014 Sep 15;18(5):641-5. Epub 2014 May 15.

Department of Pediatrics, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.05.001DOI Listing
September 2014

Lacosamide in children with refractory status epilepticus. A multicenter Italian experience.

Eur J Paediatr Neurol 2014 Sep 24;18(5):604-8. Epub 2014 Apr 24.

Department of Pediatrics, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2014.04.013DOI Listing
September 2014

Optic perineuritis: a further cause of visual loss and disc edema in children.

Brain Dev 2014 Nov 7;36(10):932-5. Epub 2014 Feb 7.

Department of Pediatrics, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.braindev.2013.12.011DOI Listing
November 2014

Recurrent Miller Fisher syndrome in children.

Pediatr Neurol 2014 Mar 31;50(3):269-71. Epub 2013 Oct 31.

Department of Pediatrics, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.10.016DOI Listing
March 2014

Epilepsy and vaccinations: Italian guidelines.

Epilepsia 2013 Oct;54 Suppl 7:13-22

Epilepsy Unit, Child Neuropsychiatry Department, University Hospital, Cagliari, Italy.

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http://dx.doi.org/10.1111/epi.12306DOI Listing
October 2013

Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy.

Eur J Paediatr Neurol 2014 Jan 3;18(1):55-9. Epub 2013 Oct 3.

Department of Pediatrics, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2013.08.006DOI Listing
January 2014

Quantification of psychosine in the serum of twitcher mouse by LC-ESI-tandem-MS analysis.

J Pharm Biomed Anal 2013 Jun 4;80:44-9. Epub 2013 Mar 4.

Dipartimento di Biotecnologie, Chimica e Farmacia, Università degli Studi di Siena, Via A. Moro, 2, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.jpba.2013.02.039DOI Listing
June 2013

HLA-DQ typing in the diagnostic algorithm of celiac disease.

Rev Esp Enferm Dig 2012 May;104(5):248-54

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Siena, Italy.

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http://dx.doi.org/10.4321/s1130-01082012000500005DOI Listing
May 2012

Management of status dystonicus in children. Cases report and review.

Eur J Paediatr Neurol 2012 Jul 12;16(4):390-5. Epub 2012 Jan 12.

Department of Pediatrics, Obstetrics, Gynecology, and Reproductive Medicine, Pediatric Neurology Unit, S. Maria alle Scotte Hospital, University of Siena, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.12.007DOI Listing
July 2012

Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

Eur J Paediatr Neurol 2011 Sep 16;15(5):456-60. Epub 2011 Jul 16.

Department of Pediatrics, Gynecology, Obstetrics, and Reproductive Medicine, Pediatric Neurology Section, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.04.003DOI Listing
September 2011

Circulating levels of allopregnanolone, a neuroactive steroid, and leptin during treatment with valproic acid in children with epilepsy.

Neuroendocrinology 2011 27;93(3):159-64. Epub 2010 Oct 27.

Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, Pediatric Neurology Section, University of Siena, Siena, Italy.

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https://www.karger.com/Article/FullText/321664
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http://dx.doi.org/10.1159/000321664DOI Listing
July 2011

Oxidative stress in children affected by epileptic encephalopathies.

J Neurol Sci 2011 Jan 6;300(1-2):103-6. Epub 2010 Oct 6.

Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, University of Siena, Viale M. Bracci, 53100, Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.09.017DOI Listing
January 2011

Bathing epilepsy: report of two Caucasian cases.

Epileptic Disord 2010 Mar 26;12(1):88-90. Epub 2010 Feb 26.

Child Neuropsychiatry Unit, Paediatric Department, University of Bologna, Italy.

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http://dx.doi.org/10.1684/epd.2010.0295DOI Listing
March 2010

Quantitative ultrasound and dual-energy x-ray absorptiometry in children and adolescents with neurofibromatosis of type 1.

J Clin Densitom 2010 Jan-Mar;13(1):77-83

Department of Internal Medicine, Endocrine-Metabolic Science and Biochemistry, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.jocd.2009.10.002DOI Listing
April 2010

Spermatogenesis in a man with complete deletion of USP9Y.

N Engl J Med 2009 Feb;360(9):881-5

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Italy.

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http://dx.doi.org/10.1056/NEJMoa0806218DOI Listing
February 2009

Postictal serum nucleotidases activities in patients with epilepsy.

Epilepsy Res 2009 Mar 20;84(1):15-20. Epub 2009 Jan 20.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S092012110800364
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http://dx.doi.org/10.1016/j.eplepsyres.2008.11.020DOI Listing
March 2009

Body mass index and serum lipid changes during treatment with valproic acid in children with epilepsy.

Ann Pharmacother 2009 Jan 9;43(1):45-50. Epub 2008 Dec 9.

Pediatric Neurology Section, Department of Pediatrics, Obstetrics, Gynecology and Reproductive Medicine, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1345/aph.1L414DOI Listing
January 2009

Topiramate effects on plasma serotonin levels in children with epilepsy.

Epilepsy Res 2008 Oct 7;81(2-3):148-54. Epub 2008 Jul 7.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2008.05.007DOI Listing
October 2008

A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood.

Epilepsy Res 2008 Sep 3;81(1):80-5. Epub 2008 Jun 3.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Viale M. Bracci, Le Scotte, Siena, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2008.04.016DOI Listing
September 2008

Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations. A review.

Epilepsy Res 2008 Mar 20;79(1):63-70. Epub 2008 Feb 20.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.12.011DOI Listing
March 2008

Late-onset childhood occipital epilepsy (Gastaut type): a family study.

Eur J Paediatr Neurol 2008 Sep 30;12(5):421-6. Epub 2008 Jan 30.

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena Santa Maria alle Scotte Hospital, Siena, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2007.11.007DOI Listing
September 2008

Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress.

Brain Dev 2008 Jun 3;30(6):391-5. Epub 2008 Jan 3.

Department of Pediatrics, Obstetrics and Reproductive Medicine, Viale Mario Bracci 36, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.braindev.2007.11.005DOI Listing
June 2008

Photoparoxysmal responses in children with chromosomal aberrations.

Epilepsy Res 2006 Dec 20;72(2-3):164-70. Epub 2006 Sep 20.

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2006.07.016DOI Listing
December 2006

Childhood absence epilepsy: evolution and prognostic factors.

Epilepsia 2005 Nov;46(11):1796-801

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2005.00277.xDOI Listing
November 2005

Typical absence seizures associated with localization-related epilepsy: a clinical and electroencephalographic characterization.

Epilepsy Res 2005 Aug-Sep;66(1-3):13-21

Department of Pediatrics, Pediatric Neurology Section, University of Siena, Ospedale Santa Maria Alle Scotte, Via M. Bracci, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2005.06.006DOI Listing
January 2006

Post-ictal circulating levels of allopregnanolone in children with partial or generalized seizures.

Epilepsy Res 2005 Feb;63(2-3):97-102

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2004.12.002DOI Listing
February 2005

Hot water epilepsy and focal malformation of the parietal cortex development.

Brain Dev 2004 Oct;26(7):490-3

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.braindev.2003.12.004DOI Listing
October 2004

Craniofacial dyssynostosis: case report and review.

Am J Med Genet A 2004 Sep;129A(3):300-2

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.a.30186DOI Listing
September 2004

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Am J Hum Genet 2004 Feb 19;74(2):239-52. Epub 2004 Jan 19.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181922PMC
http://dx.doi.org/10.1086/381653DOI Listing
February 2004

Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?

Am J Med Genet A 2004 Jan;124A(2):192-5

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.a.20316DOI Listing
January 2004

Epilepsy in neurofibromatosis 1.

J Child Neurol 2003 May;18(5):338-42

Department of Pediatrics, University of Siena, Siena, Italy.

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http://journals.sagepub.com/doi/10.1177/08830738030180050501
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http://dx.doi.org/10.1177/08830738030180050501DOI Listing
May 2003

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

Am J Med Genet A 2003 Jul;120A(1):88-91

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.a.10171DOI Listing
July 2003

Schinzel-Giedion syndrome: a further cause of West syndrome.

Brain Dev 2003 Jun;25(4):294-8

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/s0387-7604(02)00232-2DOI Listing
June 2003

Inter-ictal and post-ictal circulating levels of allopregnanolone, an anticonvulsant metabolite of progesterone, in epileptic children.

Epilepsy Res 2003 Apr;54(1):29-34

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci, Le Scotte, Siena 53100, Italy.

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http://dx.doi.org/10.1016/s0920-1211(03)00042-1DOI Listing
April 2003

Linear scleroderma associated with progressive brain atrophy.

Brain Dev 2003 Jan;25(1):57-61

Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/s0387-7604(02)00147-xDOI Listing
January 2003

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

J Neurol 2002 Oct;249(10):1446-50

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci--Le scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1007/s00415-002-0880-4DOI Listing
October 2002

De novo complete trisomy 5p: clinical and neuroradiological findings.

Am J Med Genet 2002 Sep;112(1):56-60

Department of Pediatrics, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.10679DOI Listing
September 2002

Pontocerebellar hypoplasia type 2: further clinical characterization and evidence of positive response of dyskinesia to levodopa.

J Neurol 2002 May;249(5):596-600

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci - Le scotte, 53100 Siena, Italy.

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http://link.springer.com/10.1007/s004150200069
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http://dx.doi.org/10.1007/s004150200069DOI Listing
May 2002