Publications by authors named "Celeste Panteghini"

22Publications

The relevance of gene panels in movement disorders diagnosis: A lab perspective.

Eur J Paediatr Neurol 2018 Mar 31;22(2):285-291. Epub 2018 Jan 31.

Molecular Neurogenetics Unit, IRCCS Foundation Neurological Institute C. Besta, Via L. Temolo 4, 20126 Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.01.013DOI Listing
March 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

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

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Front Neurol 2017 21;8:385. Epub 2017 Aug 21.

Department of Biomedical and Specialistic Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, Ferrara University, Ferrara, Italy.

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http://dx.doi.org/10.3389/fneur.2017.00385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573443PMC
August 2017

Thiamine-responsive disease due to mutation of : Importance of avoiding misdiagnosis.

Neurology 2017 08 26;89(8):870-871. Epub 2017 Jul 26.

From the Neurological Institute C. Besta Foundation IRCCS, Milan, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004270DOI Listing
August 2017

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

J Neurol 2017 Mar 24;264(3):586-588. Epub 2017 Jan 24.

Unit of Child Neurology and Psychiatry, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.

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http://dx.doi.org/10.1007/s00415-017-8393-3DOI Listing
March 2017

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

Parkinsonism Relat Disord 2016 09 1;30:81-2. Epub 2016 Jun 1.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2016.05.029DOI 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

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

Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.

Parkinsonism Relat Disord 2016 Feb 18;23:66-71. Epub 2015 Dec 18.

Molecular Neurogenetics Unit, IRCCS Neurological Institute C. Besta, Via L. Temolo 4, 20126 Milan, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020153006
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http://dx.doi.org/10.1016/j.parkreldis.2015.12.012DOI Listing
February 2016

A case of infantile neuroaxonal dystrophy of neonatal onset.

J Child Neurol 2015 Mar 27;30(3):368-70. Epub 2014 May 27.

Molecular Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1177/0883073814535493DOI Listing
March 2015

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.

Brain Dev 2015 Feb 5;37(2):270-2. Epub 2014 May 5.

Pediatric Neurology Unit, Azienda Ospedaliera ASMN, Istituto e Cura a Carattere Scientifico, 42123 Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2014.04.010DOI Listing
February 2015

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