Giuseppe de Michele

Giuseppe de Michele

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Giuseppe de Michele

Publications by authors named "Giuseppe de Michele"

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Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.

Neurogenetics 2019 Mar 21. Epub 2019 Mar 21.

Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.

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http://dx.doi.org/10.1007/s10048-019-00571-8DOI Listing
March 2019

Degenerative and acquired sporadic adult onset ataxia.

Neurol Sci 2019 Mar 29. Epub 2019 Mar 29.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-019-03856-wDOI Listing
March 2019

Closing-in Phenomenon in Huntington's Disease: A Neuropsychological Marker of Frontal/Executive Dysfunction.

Arch Clin Neuropsychol 2019 Feb;34(1):24-30

Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.

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http://dx.doi.org/10.1093/arclin/acy020DOI Listing
February 2019

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy.

Neurol Sci 2018 Nov 21;39(11):1857-1860. Epub 2018 Jul 21.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-018-3504-1DOI Listing
November 2018

Normalization of timed neuropsychological tests with the PATA rate and nine-hole pegboard tests.

J Neuropsychol 2018 Sep 6;12(3):471-483. Epub 2017 May 6.

Department of Neurosciences, Odontostomatological and Reproductive Sciences, University Federico II, Naples, Italy.

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http://doi.wiley.com/10.1111/jnp.12125
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http://dx.doi.org/10.1111/jnp.12125DOI Listing
September 2018

Emotion Recognition and Psychological Comorbidity in Friedreich's Ataxia.

Cerebellum 2018 Jun;17(3):336-345

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, NA, Italy.

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http://dx.doi.org/10.1007/s12311-018-0918-5DOI Listing
June 2018

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

J Neurol 2018 Jun 17;265(6):1419-1425. Epub 2018 Apr 17.

Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00415-018-8826-7DOI Listing
June 2018

Adult normative values for the PATA Rate Test.

J Neurol 2018 May 6;265(5):1102-1105. Epub 2018 Mar 6.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, University "Federico II", Via Pansini, 5, 80131, Naples, NA, Italy.

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http://dx.doi.org/10.1007/s00415-018-8820-0DOI Listing
May 2018

Animal-Assisted Therapy in Elderly Patients: Evidence and Controversies in Dementia and Psychiatric Disorders and Future Perspectives in Other Neurological Diseases.

J Geriatr Psychiatry Neurol 2018 05 15;31(3):149-157. Epub 2018 May 15.

1 Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.

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http://dx.doi.org/10.1177/0891988718774634DOI Listing
May 2018

Cognitive profile and 18F-fluorodeoxyglucose PET study in LRRK2-related Parkinson's disease.

Parkinsonism Relat Disord 2018 02 9;47:80-83. Epub 2017 Dec 9.

Institute of Biostructure and Bioimaging, National Council of Research, Naples, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2017.12.008DOI Listing
February 2018

Peripheral markers of autophagy in polyglutamine diseases.

Neurol Sci 2018 Jan 18;39(1):149-152. Epub 2017 Oct 18.

Department of Neurosciences, Odontostomatological and Reproductive Sciences, University Federico II, Via Pansini, 5, 80131, Naples, NA, Italy.

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http://dx.doi.org/10.1007/s10072-017-3156-6DOI Listing
January 2018

Correction to: Peripheral markers of autophagy in polyglutamine diseases.

Neurol Sci 2018 Jan;39(1):153

Department of Neurosciences, Odontostomatological and Reproductive Sciences, University Federico II, Via Pansini, 5, 80131, Naples, NA, Italy.

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http://dx.doi.org/10.1007/s10072-017-3193-1DOI Listing
January 2018

Functional MRI signal fluctuations highlight altered resting brain activity in Huntington's disease.

Brain Imaging Behav 2017 Oct;11(5):1459-1469

Biostructure and Bioimaging Institute, National Research Council, Via T. De Amicis 95, 80145, Naples, Italy.

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http://dx.doi.org/10.1007/s11682-016-9630-6DOI Listing
October 2017

The Multiple Faces of Spinocerebellar Ataxia type 2.

Ann Clin Transl Neurol 2017 09 10;4(9):687-695. Epub 2017 Aug 10.

Department of Neurological Reproductive and Odontostomatological Sciences Federico II University Naples Italy.

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http://dx.doi.org/10.1002/acn3.437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590519PMC
September 2017

Chorea-acanthocytosis without chorea: Expanding the clinical phenotype.

Parkinsonism Relat Disord 2017 08 17;41:124-126. Epub 2017 May 17.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2017.05.013DOI Listing
August 2017

Infusion treatments and deep brain stimulation in Parkinson's Disease: The role of nursing.

Geriatr Nurs 2016 Nov - Dec;37(6):434-439. Epub 2016 Jul 18.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1016/j.gerinurse.2016.06.012DOI Listing
July 2017

Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis.

Neurosci Lett 2017 Jul 20;654:107-110. Epub 2017 Jun 20.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University of Naples, Via S. Pansini, 5 IT-80131 Napoli, Italy.

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http://dx.doi.org/10.1016/j.neulet.2017.06.032DOI Listing
July 2017

Does motor cortex plasticity depend on the type of mutation in the leucine-rich repeat kinase 2 gene?

Mov Disord 2017 06 17;32(6):947-948. Epub 2017 Apr 17.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.1002/mds.27012DOI Listing
June 2017

Myocardial I-metaiodobenzylguanidine scintigraphy in patients with homozygous and heterozygous parkin mutations.

J Nucl Cardiol 2017 02 1;24(1):103-107. Epub 2015 Dec 1.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.

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http://link.springer.com/10.1007/s12350-015-0332-z
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http://dx.doi.org/10.1007/s12350-015-0332-zDOI Listing
February 2017

Stability of erythropoietin repackaging in polypropylene syringes for clinical use.

Saudi Pharm J 2017 Feb 14;25(2):290-293. Epub 2016 Jan 14.

Department of Neurosciences, Odontostomatological and Reproductive Sciences, University Federico II, Naples, Italy.

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http://dx.doi.org/10.1016/j.jsps.2016.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355549PMC
February 2017

Pathological laughter as onset symptom in atypical parkinsonisms.

J Neurol 2017 Jan 24;264(1):182-184. Epub 2016 Nov 24.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.

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http://link.springer.com/10.1007/s00415-016-8351-5
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http://dx.doi.org/10.1007/s00415-016-8351-5DOI Listing
January 2017

Parkinsonism in adult-onset Rasmussens's encephalitis: a clinical picture presenting as corticobasal syndrome.

Int J Neurosci 2016 Dec 25;126(12):1136-8. Epub 2016 Jan 25.

a Department of Neurosciences and Reproductive and Odontostomatological Sciences , Federico II University , Naples , Italy.

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http://dx.doi.org/10.3109/00207454.2015.1135438DOI Listing
December 2016

Impulsive-compulsive behaviors in parkin-associated Parkinson disease.

Neurology 2016 Oct 2;87(14):1436-1441. Epub 2016 Sep 2.

From the Department of Clinical and Experimental Medicine (F.M., C.S.), University of Messina, Italy; Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease (A.F.), Toronto Western Hospital, UHN, Division of Neurology, University of Toronto, Canada; Department of Neurology and Psychiatry (S.P.), Sapienza University of Rome, Italy; Sobell Department of Motor Neuroscience and Movement Disorders (L.R.), Institute of Neurology, University College London, UK; Department of Geriatrics, Neuroscience and Orthopedics (F.B., A.R.B.), Università Cattolica del Sacro Cuore, Rome; Department of Neurosciences, Reproductive and Odontostomatological Sciences (C.C., M.M., A.D.R., G.D.M.), Federico II University, Naples; Department of Medicine and Surgery (M.G., M.M., P.B., M.T.P., E.M.V.), Neuroscience Section, University of Salerno, and Neurogenetics Unit (E.M.V.), IRCCS Santa Lucia Foundation, Rome, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000003177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075971PMC
October 2016

Be aware of Wolfram syndrome when examining ataxic patients.

J Neurol 2016 Sep 17;263(9):1862-3. Epub 2016 Jun 17.

Department of Neurosciences, Federico II University, Via Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s00415-016-8199-8DOI Listing
September 2016

CCM3/PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.

J Dermatol 2016 Aug 20;43(8):962-3. Epub 2016 Feb 20.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, "Federico II" University, Naples, Italy.

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http://doi.wiley.com/10.1111/1346-8138.13317
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http://dx.doi.org/10.1111/1346-8138.13317DOI Listing
August 2016

The magnetic apraxia of Denny-Brown.

Neurology 2016 Aug;87(6):644

From Federico II University, Naples, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000002954DOI Listing
August 2016

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity.

Brain Stimul 2015 Nov-Dec;8(6):1144-50. Epub 2015 Jun 16.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, Via Sergio Pansini, 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1016/j.brs.2015.05.012DOI Listing
July 2016

Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.

Neurol Sci 2016 Jun 5;37(6):875-81. Epub 2016 Feb 5.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-016-2497-xDOI Listing
June 2016

Olfaction in Homozygous and Heterozygous SYNJ1 Arg258Gln Mutation Carriers.

Mov Disord Clin Pract 2015 Dec 25;2(4):413-416. Epub 2015 Jul 25.

Department of Medicine and Surgery Center for Neurodegenerative Diseases (CEMAND) University of Salerno Salerno Italy.

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http://doi.wiley.com/10.1002/mdc3.12183
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http://dx.doi.org/10.1002/mdc3.12183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178755PMC
December 2015

Modifications of resting state networks in spinocerebellar ataxia type 2.

Mov Disord 2015 Sep 12;30(10):1382-90. Epub 2015 Jun 12.

Biostructure and Bioimaging Institute, National Research Council, Naples, Italy.

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http://dx.doi.org/10.1002/mds.26284DOI Listing
September 2015

Movement disorders: Friedreich ataxia today—preparing for the final battle.

Nat Rev Neurol 2015 Apr 10;11(4):188-90. Epub 2015 Mar 10.

Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Università di Napoli Federico II, Via Pansini 5, I-80131 Napoli, Italy.

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http://dx.doi.org/10.1038/nrneurol.2015.33DOI Listing
April 2015

Efficacy of dopamine agonist treatment in delayed-onset parkinsonism due to midbrain hemorrhage.

Parkinsonism Relat Disord 2015 Feb 21;21(2):156-8. Epub 2014 Nov 21.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2014.10.029DOI Listing
February 2015

Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD).

J Neurol 2014 Nov 3;261(11):2204-8. Epub 2014 Sep 3.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Via Pansini 5, 80131, Naples, Italy,

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http://dx.doi.org/10.1007/s00415-014-7477-6DOI Listing
November 2014

Insulin sensitivity and early-phase insulin secretion in normoglycemic Huntington's disease patients.

J Huntingtons Dis 2013 ;2(4):501-7

Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche, Università Federico II, Naples, Italy.

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http://dx.doi.org/10.3233/JHD-130078DOI Listing
September 2014

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.

Neurogenetics 2014 Aug 10;15(3):183-8. Epub 2014 May 10.

Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10048-014-0406-0DOI Listing
August 2014

Is serum uric acid related to non-motor symptoms in de-novo Parkinson's disease patients?

Parkinsonism Relat Disord 2014 Jul 25;20(7):772-5. Epub 2014 Mar 25.

Center for Neurodegenerative Diseases (CEMAND), University of Salerno, 84131 Salerno, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.03.016DOI Listing
July 2014

Postganglionic sudomotor denervation in patients with multiple system atrophy.

Neurology 2014 Jun 16;82(24):2223-9. Epub 2014 May 16.

From the Neurology Division (V.P., M.N., G.C., A.S., B.L.), "Salvatore Maugeri" Foundation, Medical Center of Telese Terme (BN); the Department of Neurosciences and Reproductive and Odontostomatologic Sciences (F.M., R.I., A.D.R., G.D.M., L.S.), University "Federico II" of Naples, Italy; the Department of Neurology (M.M.S.), University of Minnesota, Minneapolis; and the Center for Neurodegenerative Diseases (M.T.P.), University of Salerno, Italy.

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http://www.neurology.org/content/82/24/2223.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000051
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http://dx.doi.org/10.1212/WNL.0000000000000518DOI Listing
June 2014

Jaw-Opening Oromandibular Dystonia Associated With Spinocerebellar Ataxia Type 2.

Mov Disord Clin Pract 2014 Jun 26;1(2):121-122. Epub 2014 May 26.

Department of Neurosciences Reproductive and Odontostomatological Sciences Federico II University Naples Italy.

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http://dx.doi.org/10.1002/mdc3.12032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183243PMC
June 2014

Supratentorial and infratentorial damage in spinocerebellar ataxia 2: a diffusion-weighted MRI study.

Mov Disord 2014 May 27;29(6):780-6. Epub 2013 Dec 27.

Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1002/mds.25757DOI Listing
May 2014

Parkinsonism may be part of the symptom complex of DOOR syndrome.

Parkinsonism Relat Disord 2014 Apr 23;20(4):463-5. Epub 2014 Jan 23.

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2014.01.014DOI Listing
April 2014

Reduced cardiac 123I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease.

Eur J Nucl Med Mol Imaging 2013 Dec 9;40(12):1914-21. Epub 2013 Aug 9.

Department of Neurosciences and Reproductive and Odontostomatologic Sciences, University Federico II, Naples, Italy.

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http://dx.doi.org/10.1007/s00259-013-2524-6DOI Listing
December 2013

Somatosensory temporal discrimination threshold is increased in patients with cerebellar atrophy.

Cerebellum 2013 Aug;12(4):456-9

Department of Neurological Sciences, University Federico II of Naples, Via Sergio Pansini, 5 - 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s12311-012-0435-xDOI Listing
August 2013

Can telomere shortening in human peripheral blood leukocytes serve as a disease biomarker of Friedreich's ataxia?

Antioxid Redox Signal 2013 Apr 13;18(11):1303-6. Epub 2012 Dec 13.

Department of Cellular and Molecular Biology and Pathology, University of Naples "Federico II," Naples, Italy.

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http://dx.doi.org/10.1089/ars.2012.5009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584504PMC
April 2013

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

J Neurol 2013 Apr 30;260(4):1116-21. Epub 2012 Nov 30.

Department of Neurological Sciences, University Federico II, Via Pansini 5, 80131 Naples, NA, Italy.

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http://dx.doi.org/10.1007/s00415-012-6770-5DOI Listing
April 2013

A case of restless leg syndrome in a family with LRRK2 gene mutation.

Int J Neurosci 2013 Apr 4;123(4):283-5. Epub 2013 Feb 4.

Department of Neurological Sciences, Federico II University, Naples, Italy. anna

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http://dx.doi.org/10.3109/00207454.2012.756485DOI Listing
April 2013

A randomized clinical trial of lithium in multiple system atrophy.

J Neurol 2013 Feb 30;260(2):458-61. Epub 2012 Aug 30.

Department of Neurological Sciences, University Federico II, Via Pansini, 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1007/s00415-012-6655-7DOI Listing
February 2013

The influence of gender on phenotype and disease progression in patients with Huntington's disease.

Parkinsonism Relat Disord 2013 Feb 25;19(2):192-7. Epub 2012 Oct 25.

Poznan University of Medical Sciences, Department of Social Medicine, Rokietnicka Str., No. 5 C, 60-806 Poznan, Poland.

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http://dx.doi.org/10.1016/j.parkreldis.2012.09.012DOI Listing
February 2013

Antiphospholipid-related chorea.

Front Neurol 2012 22;3:150. Epub 2012 Oct 22.

Department of Neurological Sciences, Federico II University Naples, Italy.

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http://dx.doi.org/10.3389/fneur.2012.00150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477765PMC
October 2012

Subacute combined degeneration of the spinal cord in a vegan.

Clin Neurol Neurosurg 2012 Sep 6;114(7):1000-2. Epub 2012 Feb 6.

Department of Neurological Sciences, Federico II University, and Department of Neurophysiology, San Gennaro Hospital, Via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1016/j.clineuro.2012.01.008DOI Listing
September 2012

Overview of autosomal recessive ataxias.

Handb Clin Neurol 2012 ;103:265-74

Department of Neurological Sciences, Federico II University, Naples, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/B97804445189270
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http://dx.doi.org/10.1016/B978-0-444-51892-7.00016-4DOI Listing
December 2011

Other autosomal recessive and childhood ataxias.

Handb Clin Neurol 2012 ;103:343-57

Department of Neurological Sciences, Federico II University, Naples, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/B97804445189270
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http://dx.doi.org/10.1016/B978-0-444-51892-7.00021-8DOI Listing
December 2011

Growth hormone response to arginine test differentiates between two subgroups of Huntington's disease patients.

J Neurol Neurosurg Psychiatry 2011 May 30;82(5):543-7. Epub 2010 Sep 30.

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Naples, Italy.

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http://dx.doi.org/10.1136/jnnp.2010.208553DOI Listing
May 2011

Electrophysiological characterisation in hereditary spastic paraplegia type 5.

Clin Neurophysiol 2011 Apr 15;122(4):819-22. Epub 2010 Dec 15.

Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.

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http://dx.doi.org/10.1016/j.clinph.2010.10.025DOI Listing
April 2011

Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease.

Clin Neurophysiol 2011 Mar 24;122(3):546-549. Epub 2010 Aug 24.

Department of Neurological Sciences, "Federico II" University of Naples, Italy.

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http://dx.doi.org/10.1016/j.clinph.2010.07.016DOI Listing
March 2011

Assessment of brain white matter fiber bundle atrophy in patients with Friedreich ataxia.

Radiology 2010 Jun;255(3):882-9

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, Scientific Institute and University Hospital San Raffaele, Via Olgettina 60, 20132 Milan, Italy.

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http://dx.doi.org/10.1148/radiol.10091742DOI Listing
June 2010

Complex phenotype in an Italian family with a novel mutation in SPG3A.

J Neurol 2010 Mar 19;257(3):328-31. Epub 2009 Sep 19.

Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s00415-009-5311-3DOI Listing
March 2010

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

J Neurol 2009 Aug 12;256(8):1252-7. Epub 2009 Apr 12.

Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, Naples 80131, Italy.

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http://dx.doi.org/10.1007/s00415-009-5109-3DOI Listing
August 2009

Course and outcome of a voltage-gated potassium channel antibody negative Morvan's syndrome.

Neurol Sci 2009 Jun 4;30(3):237-9. Epub 2009 Mar 4.

Department of Neurological Sciences, Federico II University, Via Pansini, 5, 80131, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-009-0041-yDOI Listing
June 2009

Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy.

Parkinsonism Relat Disord 2009 Mar 14;15(3):242-4. Epub 2008 Jul 14.

Department of Neurological Sciences, Federico II University, Via Pansini 5, 80131 Naples, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2008.05.011DOI Listing
March 2009

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Ann Neurol 2009 Jan;65(1):114-8

Institut National de la Sante et de la Recherche Mèdicale, U931, GReD CNRS 6247, Faculté de Médecine, Lyon, France.

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http://dx.doi.org/10.1002/ana.21579DOI Listing
January 2009

A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.

Thyroid 2008 Sep;18(9):1005-9

Dipartimento di Endocrinologia ed Oncologia Molecolare e Clinica, Università degli Studi di Napoli Federico II, Napoli, Italy.

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http://dx.doi.org/10.1089/thy.2008.0085DOI Listing
September 2008