Giovanna Zorzi

Giovanna Zorzi

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Giovanna Zorzi

Giovanna Zorzi

Publications by authors named "Giovanna Zorzi"

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Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Eur J Med Genet 2018 Oct 3;61(10):581-584. Epub 2018 Apr 3.

Molecular Neurogenetics, Foundation IRCCS Neurological Institute Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.011DOI Listing
October 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

ATP1A3-related disorders: An update.

Eur J Paediatr Neurol 2018 Mar 21;22(2):257-263. Epub 2017 Dec 21.

Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20131 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.009DOI Listing
March 2018

Deep brain stimulation for dystonia due to cerebral palsy: A review.

Eur J Paediatr Neurol 2018 Mar 14;22(2):308-315. Epub 2017 Dec 14.

Department of Neurology - Movement Disorders, IRCCS Fondazione C. Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.002DOI Listing
March 2018

Diagnosis and treatment of pediatric onset isolated dystonia.

Eur J Paediatr Neurol 2018 Mar 17;22(2):238-244. Epub 2018 Jan 17.

Department of Paediatric Neurology, IRCCS Fondazione C. Besta, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173191
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http://dx.doi.org/10.1016/j.ejpn.2018.01.006DOI Listing
March 2018

CANS: Childhood acute neuropsychiatric syndromes.

Eur J Paediatr Neurol 2018 03;22(2):316-320

Fondazione IRCSS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798173191
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http://dx.doi.org/10.1016/j.ejpn.2018.01.011DOI Listing
March 2018

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Mov Disord 2017 11 26;32(11):1646-1647. Epub 2017 Sep 26.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/mds.27175DOI Listing
November 2017

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

Mol Genet Metab 2017 06 18;121(2):180-189. Epub 2017 Apr 18.

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Centre for the Study of Mitochondrial Disorders in Children, Foundation IRCCS Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.006DOI Listing
June 2017

DYT2 screening in early-onset isolated dystonia.

Eur J Paediatr Neurol 2017 Mar 13;21(2):269-271. Epub 2016 Oct 13.

Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.10.001DOI Listing
March 2017

Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

Mol Genet Metab 2017 03 27;120(3):278-287. Epub 2016 Dec 27.

Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA; Department of Neurology, Oregon Health & Science University, Portland, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.11.004DOI Listing
March 2017

Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

Curr Neurol Neurosci Rep 2016 Jun;16(6):54

Child Neurology Department, Neurological Institute C. Besta Foundation IRCCS, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s11910-016-0656-3DOI Listing
June 2016

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients.

Eur J Paediatr Neurol 2016 Jan 3;20(1):152-7. Epub 2015 Sep 3.

Unit of Neuropediatry, The Foundation "Carlo Besta" Institute of Neurology IRCCS, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.08.006DOI Listing
January 2016

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea.

J Neurol Sci 2016 Jan 27;360:78-83. Epub 2015 Nov 27.

Institute of Cell Biology and Neurobiology, National Council of Research, 00015 Monterotondo, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.11.050DOI Listing
January 2016

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.

J Child Neurol 2015 Nov 23;30(13):1800-5. Epub 2015 Apr 23.

Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS, Milan, Italy

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http://dx.doi.org/10.1177/0883073815581608DOI Listing
November 2015

Childhood onset of acquired neuromyotonia: association with a ganglioneuroma.

Muscle Nerve 2015 Apr 6;51(4):620-1. Epub 2015 Feb 6.

Child Neurology Unit, Foundation IRCCS "Carlo Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1002/mus.24582DOI Listing
April 2015

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction.

Eur J Paediatr Neurol 2015 Jan 18;19(1):64-8. Epub 2014 Oct 18.

Neuropediatrics Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140017
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http://dx.doi.org/10.1016/j.ejpn.2014.10.003DOI Listing
January 2015

Sporadic and familial glut1ds Italian patients: A wide clinical variability.

Seizure 2015 Jan 26;24:28-32. Epub 2014 Nov 26.

Brain and Behaviour Department, University of Pavia, Pavia, Italy; Department of Child Neurology and Psychiatry, "C. Mondino" National Neurological Institute, Pavia, Italy. Electronic address:

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http://www.glut1.it/wp-content/uploads/2014/12/familial-glut
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http://dx.doi.org/10.1016/j.seizure.2014.11.009DOI Listing
January 2015

Therapeutic advances in neurodegeneration with brain iron accumulation.

Int Rev Neurobiol 2013 ;110:153-64

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1016/B978-0-12-410502-7.00008-9DOI Listing
July 2014

Deep brain stimulation in critical care conditions.

J Neural Transm (Vienna) 2014 Apr 30;121(4):391-8. Epub 2013 Nov 30.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.

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http://www.angelofranzini.com/dbsccc.pdf
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http://link.springer.com/content/pdf/10.1007/s00702-013-1122
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http://link.springer.com/10.1007/s00702-013-1122-x
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http://dx.doi.org/10.1007/s00702-013-1122-xDOI Listing
April 2014

Axonal dystrophies.

Handb Clin Neurol 2013 ;113:1919-24

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00062-9DOI Listing
March 2014

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.

J Child Neurol 2014 Feb 29;29(2):249-53. Epub 2013 Oct 29.

1Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy.

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http://dx.doi.org/10.1177/0883073813506936DOI Listing
February 2014

Morphological and chemical analysis of a deep brain stimulation electrode explanted from a dystonic patient.

J Neural Transm (Vienna) 2013 Oct 6;120(10):1425-31. Epub 2013 Apr 6.

Division of Neurosurgery, Department of Neuroscience and Neurorehabilitation, IRCCS Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s00702-013-1017-xDOI Listing
October 2013

Pathophysiology and treatment of neurodegeneration with brain iron accumulation in the pediatric population.

Curr Treat Options Neurol 2013 Oct;15(5):652-67

Department of Neurology, University of Kiel, Arnold Heller Str 3, 24105, Kiel, Germany,

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http://dx.doi.org/10.1007/s11940-013-0254-5DOI Listing
October 2013

Phenomenology of psychogenic movement disorders in children.

Mov Disord 2012 Aug 7;27(9):1153-7. Epub 2012 Mar 7.

U.O. Neuropsichiatria Infantile Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italia.

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http://dx.doi.org/10.1002/mds.24947DOI Listing
August 2012

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Semin Pediatr Neurol 2012 Jun;19(2):75-81

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the study of Mitochondrial Disorders in Children, IRCCS, Foundation Neurological Institute C. Besta, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S107190911200022
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http://dx.doi.org/10.1016/j.spen.2012.03.006DOI Listing
June 2012

Therapeutic advances in neurodegeneration with brain iron accumulation.

Semin Pediatr Neurol 2012 Jun;19(2):82-6

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.spen.2012.03.007DOI Listing
June 2012

Paroxysmal non-epileptic motor events in childhood: a clinical and video-EEG-polymyographic study.

Dev Med Child Neurol 2012 Apr 28;54(4):334-8. Epub 2012 Jan 28.

UO Neuropsichiatria Infantile Fondazione, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://doi.wiley.com/10.1111/j.1469-8749.2011.04217.x
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http://dx.doi.org/10.1111/j.1469-8749.2011.04217.xDOI Listing
April 2012

Diagnostic issues in childhood and adult dystonia.

Expert Opin Med Diagn 2011 Nov;5(6):483-500

Neurologia I, Fondazione Istituto Neurologico Carlo Besta , Via Celoria, 11, 20133 Milano , Italy +02 2394 2552 ; +02 2394 2539 ;

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http://dx.doi.org/10.1517/17530059.2011.615831DOI Listing
November 2011

Deep brain stimulation for movement disorders. Considerations on 276 consecutive patients.

J Neural Transm (Vienna) 2011 Oct 20;118(10):1497-510. Epub 2011 May 20.

Department of Neurosurgery, Fondazione IRCCS Istituto Neurologico C. Besta, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00702-011-0656-zDOI Listing
October 2011

Reaching and writing movements: sensitive and reliable tools to measure genetic dystonia in children.

J Child Neurol 2011 Jul 18;26(7):822-9. Epub 2011 Mar 18.

Politecnico di Milano, Bioengineering Department, NearLab, Milan, Italy.

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http://dx.doi.org/10.1177/0883073810392997DOI Listing
July 2011

Glucose transporter type 1 deficiency: ketogenic diet in three patients with atypical phenotype.

Brain Dev 2010 May 9;32(5):404-8. Epub 2009 Jun 9.

Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico C.Mondino, Pavia, Italy.

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http://dx.doi.org/10.1016/j.braindev.2009.04.013DOI Listing
May 2010

Childhood-onset HAM/TSP with progressive cognitive impairment.

Neurol Sci 2010 Apr;31(2):209-12

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-009-0204-xDOI Listing
April 2010

Deep brain stimulation electrode used for radiofrequency lesion of the globus pallidus internus in dystonia.

Stereotact Funct Neurosurg 2009 10;87(6):348-52. Epub 2009 Sep 10.

Department of Neurosurgery, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1159/000236368DOI Listing
February 2010

Early onset primary dystonia.

Eur J Paediatr Neurol 2009 Nov 20;13(6):488-92. Epub 2009 Jan 20.

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S109037980800222
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http://dx.doi.org/10.1016/j.ejpn.2008.12.001DOI Listing
November 2009

Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families.

Mov Disord 2008 Jan;23(1):28-34

Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milano, Italy.

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http://dx.doi.org/10.1002/mds.21715DOI Listing
January 2008

Stimulation of the globus pallidus internus for childhood-onset dystonia.

Mov Disord 2005 Sep;20(9):1194-200

Department of Child Neurology, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1002/mds.20510DOI Listing
September 2005

Long-term high-frequency bilateral pallidal stimulation for neuroleptic-induced tardive dystonia. Report of two cases.

J Neurosurg 2005 Apr;102(4):721-5

Department of Neurosurgery, Division of Child Neurology, and Department of Neurology, Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.3171/jns.2005.102.4.0721DOI Listing
April 2005

Paroxysmal dyskinesias in childhood.

Pediatr Neurol 2003 Mar;28(3):168-72

Department of Child Neurology, Istituto Nazionale Neurologico "C. Besta", Milano, Italy.

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http://dx.doi.org/10.1016/s0887-8994(02)00512-xDOI Listing
March 2003

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.

Mov Disord 2002 Mar;17(2):407-8

Department of Child Neurology, National Neurological Institute C. Besta, Milan, Italy.

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March 2002

Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.

Mol Genet Metab 2002 Feb;75(2):174-7

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

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http://dx.doi.org/10.1006/mgme.2001.3273DOI Listing
February 2002

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.

J Neurochem 2002 Jan;80(2):362-4

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1046/j.0022-3042.2001.00710.xDOI Listing
January 2002