Mario Mastrangelo

Mario Mastrangelo

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Mario Mastrangelo

Mario Mastrangelo

Publications by authors named "Mario Mastrangelo"

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47Publications

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Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Eur J Med Genet 2019 Dec 27;62(12):103591. Epub 2018 Nov 27.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.11.025DOI Listing
December 2019

Clinical approach to neurodegenerative disorders in childhood: an updated overview.

Acta Neurol Belg 2019 Dec 3;119(4):511-521. Epub 2019 Jun 3.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Via dei Sabelli 108, 00141, Rome, Italy.

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http://dx.doi.org/10.1007/s13760-019-01160-0DOI Listing
December 2019

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mol Genet Metab Rep 2019 Dec 21;21:100502. Epub 2019 Aug 21.

Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713842PMC
December 2019

Early Post-cooling Brain Magnetic Resonance for the Prediction of Neurodevelopmental Outcome in Newborns with Hypoxic-Ischemic Encephalopathy.

J Pediatr Neurosci 2019 Oct-Dec;14(4):191-202. Epub 2019 Dec 3.

Pediatric Intensive Care Unit, Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.4103/jpn.JPN_25_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935984PMC
December 2019

Update on the treatment of vitamin B6 dependent epilepsies.

Expert Rev Neurother 2019 Nov 29;19(11):1135-1147. Epub 2019 Jul 29.

Division of Child Neurology and Infantile Psychiatry, Department of Human Neurosciences, Sapienza University of Rome , Roma , Italy.

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http://dx.doi.org/10.1080/14737175.2019.1648212DOI Listing
November 2019

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

Parkinsonism Relat Disord 2019 11 18;68:1-3. Epub 2019 Sep 18.

Division of Child Neurology and Infantile Psychiatry, Department of Neuroscience, Sapienza University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.016DOI Listing
November 2019

Correction to: Clinical approach to neurodegenerative disorders in childhood: an updated overview.

Acta Neurol Belg 2019 Aug 26. Epub 2019 Aug 26.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Via dei Sabelli 108, 00141, Rome, Italy.

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http://dx.doi.org/10.1007/s13760-019-01205-4DOI Listing
August 2019

AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.

Acta Paediatr 2019 03 27;108(3):564-565. Epub 2018 Nov 27.

Department of Human Neurosciences, Unit of Infantile Neurology and Psychiatry, University of Rome 'La Sapienza', Rome, Italy.

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http://doi.wiley.com/10.1111/apa.14633
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http://dx.doi.org/10.1111/apa.14633DOI Listing
March 2019

Epilepsy in children with type 1 diabetes mellitus: Pathophysiological basis and clinical hallmarks.

Eur J Paediatr Neurol 2019 Mar 21;23(2):240-247. Epub 2018 Dec 21.

Pediatric Diabetology Unit, Department of Maternal and Infantile Health, Sapienza University of Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2018.12.006DOI Listing
March 2019

PRICKLE1-related early onset epileptic encephalopathy.

Am J Med Genet A 2018 12 22;176(12):2841-2845. Epub 2018 Oct 22.

Department of Human Neuroscience, "Sapienza, University of Rome", Rome, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.40625
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http://dx.doi.org/10.1002/ajmg.a.40625DOI Listing
December 2018

Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.

J Pediatr Neurosci 2018 Jan-Mar;13(1):13-23

Department of Pediatrics, Child Neurology and Psychiatry-Division of Pediatric Neurology-Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.4103/JPN.JPN_160_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5982487PMC
June 2018

Photosensitivity as an early marker of epileptic and developmental encephalopathies.

Epilepsia 2018 05;59(5):1086-1087

Child Neurology, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1111/epi.14031DOI Listing
May 2018

Successful Pregnancy in a Patient with L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome.

Mov Disord Clin Pract 2018 Jul-Aug;5(4):446-447. Epub 2018 May 12.

Pediatric Neurology Division, Department of Human Neuroscience Sapienza University of Rome Italy.

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http://dx.doi.org/10.1002/mdc3.12622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336373PMC
May 2018

Minor Head Trauma in the Pediatric Emergency Department: Decision Making Nodes.

Curr Pediatr Rev 2017 ;13(2):92-99

Pediatric Emergencies and Intensive Care Unit-Department of Pediatrics, Child Neurology and Psychiatry-Sapienza - University of Rome, Rome. Italy.

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http://dx.doi.org/10.2174/1573396313666170404113214DOI Listing
February 2018

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Metab Brain Dis 2018 02 25;33(1):261-269. Epub 2017 Nov 25.

General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1007/s11011-017-0150-xDOI Listing
February 2018

Lennox-Gastaut Syndrome: A State of the Art Review.

Neuropediatrics 2017 Jun 27;48(3):143-151. Epub 2017 Mar 27.

Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1055/s-0037-1601324DOI Listing
June 2017

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B.

Neurology 2017 01 30;88(5):501-502. Epub 2016 Dec 30.

From the La Sapienza University of Rome (V.L., M.M., M.T.G., R.C.), Italy; and University of Heidelberg (G.F.H.), Germany.

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http://dx.doi.org/10.1212/WNL.0000000000003539DOI Listing
January 2017

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.

Mol Genet Metab 2015 Nov 10;116(3):171-7. Epub 2015 Aug 10.

Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University of Rome. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.08.005DOI Listing
November 2015

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

Pediatr Neurol 2015 Aug 15;53(2):119-29. Epub 2015 May 15.

Pediatric Neurology Division, Department of Pediatrics, Child Neurology and Psychiatry, "Sapienza-University of Rome", Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.04.001DOI Listing
August 2015

Actual insights into the clinical management of febrile seizures.

Eur J Pediatr 2014 Aug 30;173(8):977-82. Epub 2014 Jan 30.

Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, "Sapienza" University of Rome, Via dei Sabelli 108, 00184, Rome, Italy,

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http://link.springer.com/10.1007/s00431-014-2269-7
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http://dx.doi.org/10.1007/s00431-014-2269-7DOI Listing
August 2014

Genetic background of febrile seizures.

Rev Neurosci 2014 ;25(1):129-61

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http://dx.doi.org/10.1515/revneuro-2013-0053DOI Listing
June 2014

Teaching video neuroimages: clinical course of infantile ascending hereditary spastic paralysis.

Neurology 2014 Feb;82(7):e61

From the Division of Child Neurology (M.M., P.D.L., C.C., S.B., V.L.), Department of Pediatrics, Child Neurology and Psychiatry, "Sapienza" University of Rome; and Neurology IV-Neuromuscular Diseases and Neuroimmunology Unit (P.B.), Neurological Institute Foundation "Carlo Besta," Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000117DOI Listing
February 2014

Inborn errors of creatine metabolism and epilepsy.

Epilepsia 2013 Feb 13;54(2):217-27. Epub 2012 Nov 13.

Division of Child Neurology, Department of Paediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1111/epi.12020DOI Listing
February 2013

WT1 CpG islands methylation in human lung cancer: a pilot study.

Biochem Biophys Res Commun 2012 Sep 20;426(3):306-9. Epub 2012 Aug 20.

Department of Clinic and Molecular Medicine, Sapienza University of Rome, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2012.08.059DOI Listing
September 2012

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.

Neuropediatrics 2012 Aug 22;43(4):201-8. Epub 2012 May 22.

Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1055/s-0032-1315431DOI Listing
August 2012

Diagnostic work-up and therapeutic options in management of pediatric status epilepticus.

World J Pediatr 2012 May 10;8(2):109-15. Epub 2012 May 10.

Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1007/s12519-012-0348-2DOI Listing
May 2012

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.

Eur J Paediatr Neurol 2012 Mar 21;16(2):179-91. Epub 2011 Sep 21.

Division of Child Neurology, Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, via dei Sabelli 108, 00185 Roma, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2011.07.015DOI Listing
March 2012

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

Pediatr Neurol 2012 Jan;46(1):24-31

Division of Child Neurology, Department of Pediatrics, Child Neurology, and Psychiatry, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.11.003DOI Listing
January 2012

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.

Am J Med Genet A 2011 Mar 22;155A(3):582-5. Epub 2011 Feb 22.

Department of Formative Processes, University of Catania, Italy.

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http://dx.doi.org/10.1002/ajmg.a.33318DOI Listing
March 2011

Neurocardiogenic syncope and epilepsy in pediatric age: the diagnostic value of electroencephalogram-electrocardiogram holter.

Pediatr Emerg Care 2011 Jan;27(1):36-9

Division of Child Neurology, Department of Pediatrics, University of Rome La Sapienza, Rome, Italy.

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https://insights.ovid.com/crossref?an=00006565-201101000-000
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http://dx.doi.org/10.1097/PEC.0b013e3182045c11DOI Listing
January 2011

Eponym : Rasmussen syndrome.

Eur J Pediatr 2010 Aug 23;169(8):919-24. Epub 2010 Feb 23.

Child Neurology Division, Department of Pediatrics, La Sapienza-University of Rome, Viale Regina Elena, 324 00161 Rome, Italy.

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http://link.springer.com/10.1007/s00431-010-1148-0
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http://dx.doi.org/10.1007/s00431-010-1148-0DOI Listing
August 2010

New trends in neuronal migration disorders.

Eur J Paediatr Neurol 2010 Jan 4;14(1):1-12. Epub 2009 Mar 4.

Department of Pediatrics, University of Chieti, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2009.01.005DOI Listing
January 2010

Stupor and fast activity on electroencephalography in a child treated with valproate.

Pediatr Neurol 2009 Jul;41(1):53-6

Pediatric Neurology Division, Department of Pediatrics, La Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.02.003DOI Listing
July 2009

Raw milk traditional Italian ewe cheeses as a source of Lactobacillus casei strains with acid-bile resistance and antigenotoxic properties.

Int J Food Microbiol 2008 Jul 30;125(3):330-5. Epub 2008 Apr 30.

Dipartimento di Scienze degli Alimenti, Università di Teramo, Via C.R. Lerici 1, 64023 Mosciano S. Angelo, Italy.

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http://dx.doi.org/10.1016/j.ijfoodmicro.2008.04.009DOI Listing
July 2008

A taxonomic survey of lactic acid bacteria isolated from wheat (Triticum durum) kernels and non-conventional flours.

Syst Appl Microbiol 2007 Nov 1;30(7):561-71. Epub 2007 Aug 1.

Dipartimento di Scienze degli Alimenti, Sezione di Microbiologia Agro-Alimentare ed Ambientale, Università degli Studi di Teramo, V.C.R. Lerici 1, 64023 Mosciano Sant'Angelo (TE), Italy.

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http://dx.doi.org/10.1016/j.syapm.2007.07.001DOI Listing
November 2007

Identification of subdominant sourdough lactic acid bacteria and their evolution during laboratory-scale fermentations.

Food Microbiol 2007 Sep 12;24(6):592-600. Epub 2007 Jan 12.

Dipartimento di Scienze degli Alimenti, Sezione di Microbiologia Agro-Alimentare ed Ambientale, Università degli Studi di Teramo, V.C.R. Lerici 1, 64023 Mosciano Sant'Angelo, Teramo, Italy.

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http://dx.doi.org/10.1016/j.fm.2007.01.002DOI Listing
September 2007

Bilateral perysilvian polymicrogyria in Chiari I malformation.

Childs Nerv Syst 2006 Dec 13;22(12):1635-7. Epub 2006 Oct 13.

Child Neurology Division, Department of Pediatrics, University La Sapienza, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1007/s00381-006-0180-xDOI Listing
December 2006