Publications by authors named "Laura Canafoglia"

75Publications

Neurological phenotype of Potocki-Lupski syndrome.

Am J Med Genet A 2020 Oct 15;182(10):2317-2324. Epub 2020 Aug 15.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61789DOI Listing
October 2020

Interrater agreement on classification of photoparoxysmal electroencephalographic response.

Epilepsia 2020 Sep 19. Epub 2020 Sep 19.

Department of Pediatric Clinical Epileptology, Sleep Disorders, and Functional Neurology, University Hospitals of Lyon, Lyon, France.

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http://dx.doi.org/10.1111/epi.16655DOI Listing
September 2020

Cortical network dysfunction revealed by magnetoencephalography in carriers of spinocerebellar ataxia 1 or 2 mutation.

Clin Neurophysiol 2020 Jul 23;131(7):1548-1555. Epub 2020 Apr 23.

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

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http://dx.doi.org/10.1016/j.clinph.2020.03.036DOI Listing
July 2020

Early Parkinsonism in a Senegalese girl with Lafora disease.

Epileptic Disord 2020 Apr;22(2):233-236

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milano.

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http://dx.doi.org/10.1684/epd.2020.1150DOI Listing
April 2020

Distortion of the cortical motor map in patients with Unverricht-Lundborg disease: A combined TMS-MRI study.

Epilepsy Res 2020 02 15;160:106278. Epub 2020 Jan 15.

Neurophysiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2020.106278DOI Listing
February 2020

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome.

Clin Neurophysiol 2019 12 24;130(12):2231-2237. Epub 2019 Oct 24.

Department of Medical and Surgical Sciences, Magna Graecia University, Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital "Bianchi-Melacrino-Morelli", Reggio Calabria, Italy.

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http://dx.doi.org/10.1016/j.clinph.2019.08.031DOI Listing
December 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Early clinical and EEG findings associated with the outcome in childhood absence epilepsy.

Epilepsy Behav 2019 09 13;98(Pt A):273-278. Epub 2019 Aug 13.

Neurofisiopatologia ed Epilettologia Diagnostica, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2019.06.040DOI Listing
September 2019

Flunarizine and Aspirin for Transient Hemiparesis in Sturge-Weber Syndrome.

Neuropediatrics 2019 12 4;50(6):406-407. Epub 2019 Jul 4.

Neurophysiopathology Department, Fondazione IRCCS Istituto Neurologico "C. Besta," Milan, Italy.

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http://dx.doi.org/10.1055/s-0039-1685528DOI Listing
December 2019

Epileptic phenotypes in children with early-onset mitochondrial diseases.

Acta Neurol Scand 2019 Sep 6;140(3):184-193. Epub 2019 Jun 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/ane.13130DOI Listing
September 2019

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.

Seizure 2019 Feb 8;65:106-108. Epub 2019 Jan 8.

Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology, San Gerardo Hospital, School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMi), University of Milano-Bicocca, Monza, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183078
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http://dx.doi.org/10.1016/j.seizure.2019.01.005DOI Listing
February 2019

Usefulness of EEG-EMG coherence analysis to confirm epileptic nature of spells mimicking hemifacial spasms.

Clin Neurophysiol 2018 08 8;129(8):1649-1650. Epub 2018 Jun 8.

Department of Medical and Surgical Sciences, Magna Græcia University of Catanzaro, Italy; Regional Epilepsy Centre, Great Metropolitan Hospital, Reggio Calabria, Italy; Institute of Molecular Bioimaging and Physiology, National Research Council, Catanzaro, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.06.001DOI Listing
August 2018

Effect of repetitive transcranial magnetic stimulation on action myoclonus: A pilot study in patients with EPM1.

Epilepsy Behav 2018 03 3;80:33-36. Epub 2018 Feb 3.

Neurophysiopathology and Epilepsy Centre Unit, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.11.031DOI Listing
March 2018

Corrigendum to "Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study" [Epilepsy Behav 74 (2017) Pages 69-72].

Epilepsy Behav 2017 12;77:114

Institute of Molecular Bioimaging and Physiology of the National Research Council (IBFM-CNR), Catanzaro, Italy; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.11.011DOI Listing
December 2017

Variable course of Unverricht-Lundborg disease: Early prognostic factors.

Neurology 2017 Oct 20;89(16):1691-1697. Epub 2017 Sep 20.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., C.T., F.P., S.F.) and Pediatric Neurology (T.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; Department of Medical and Surgical Sciences (E.F., A.G., U.A.), Magna Graecia University, Catanzaro; Regional Epilepsy Centre (E.F., U.A.), Bianchi-Melacrino-Morelli Hospital, Reggio Calabria; Unit of Neurology (R.M., E.P., P.R.), IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna; Pediatric Neurology and Muscular Diseases Unit (P.S.), DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G. Gaslini Institute; Department of Neuroscience and Epilepsy Centre (A.M.), G. Martino Policlinico AOU, University of Messina; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Department of Neurology (V.B.), S. Anna Hospital, Como; Department of Neurology and Psychiatry (M.F.), Neurology Unit, Sapienza University, Rome; Epilepsy Center (F.B.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; and Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004518DOI Listing
October 2017

Advanced morphological neuroimaging study in lateral temporal lobe epilepsy: A multicentric study.

Epilepsy Behav 2017 09 17;74:69-72. Epub 2017 Jul 17.

Institute of Molecular Bioimaging and Physiology of the National Research Council (IBFM-CNR), Catanzaro, Italy; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2017.06.017DOI Listing
September 2017

The impact of genetic and experimental studies on classification and therapy of the epilepsies.

Neurosci Lett 2018 02 15;667:17-26. Epub 2017 May 15.

Dept. of Neurophysiology and Diagnostic Epileptology, Foundation IRCCS Neurological Institute C. Besta, 20133 Milan, Italy.

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http://dx.doi.org/10.1016/j.neulet.2017.05.026DOI Listing
February 2018

Movement-activated cortical myoclonus in Dravet syndrome.

Epilepsy Res 2017 02 19;130:47-52. Epub 2017 Jan 19.

Neurophysiopathology and Epilepsy Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2017.01.007DOI Listing
February 2017

The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1.

BMC Neurol 2016 Nov 7;16(1):214. Epub 2016 Nov 7.

Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1186/s12883-016-0738-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100097PMC
November 2016

Neurophysiology of myoclonus and progressive myoclonus epilepsies.

Epileptic Disord 2016 Sep;18(S2):11-27

National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1684/epd.2016.0835DOI Listing
September 2016

Sialidoses.

Epileptic Disord 2016 Sep;18(S2):89-93

Fondazione I.R.C.C.S., Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1684/epd.2016.0845DOI Listing
September 2016

Progressive myoclonus epilepsy associated with SACS gene mutations.

Neurol Genet 2016 Aug 23;2(4):e83. Epub 2016 Jun 23.

Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936476PMC
August 2016

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Neurology 2015 Jul 26;85(4):316-24. Epub 2015 Jun 26.

From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520821PMC
July 2015

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age: Diagnostic Implications and Peculiarities.

J Child Neurol 2015 Nov 5;30(13):1824-30. Epub 2015 May 5.

Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy

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http://dx.doi.org/10.1177/0883073815583687DOI Listing
November 2015

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology 2014 Jun 7;82(22):2003-6. Epub 2014 May 7.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., F.P., S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000048
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http://dx.doi.org/10.1212/WNL.0000000000000482DOI Listing
June 2014

EEG-EMG information flow in movement-activated myoclonus in patients with Unverricht-Lundborg disease.

Clin Neurophysiol 2014 Sep 20;125(9):1803-8. Epub 2014 Jan 20.

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

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http://dx.doi.org/10.1016/j.clinph.2014.01.005DOI Listing
September 2014

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Neurology 2014 Feb 2;82(5):405-11. Epub 2014 Jan 2.

From the Department of Neurophysiopathology and Epilepsy Centre (S.F., L.C., E.V., F.P., G.A.), IRCCS Foundation C. Besta Neurological Institute, Milan; Unit of Neurology (R.M.), IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna; Pediatric Neurology and Muscular Diseases Unit (P.S.), DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G. Gaslini Institute; Department of Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Epilepsy Centre (A.M.), Department of Neuroscience, University of Messina; IRCCS Institute of Neurological Sciences and Department of Biomedical and Neuromotor Sciences (P.T.), University of Bologna; Epilepsy Centre (A.L.N.), Azienda Ospedaliero Universitaria Consorziale, Dipartimento di Scienze Mediche di Base, Neuroscienze ed Organi di Senso, Policlinico, Bari; Child Neurology Unit (G.G.), IRCCS delle Scienze Neurologiche, Bologna; Department of Neurology and Psychiatry (A.T.G.), Neurology Unit, La Sapienza University, Rome; Epilepsy Center (G.C.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; University of Bologna (C.A.T.); Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo; and Istituto Gaslini (F.Z.), Laboratory of Neurogenetics, Genoa, Italy. Coinvestigators are listed on the Neurology® Web site at www.neurology.org.

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http://dx.doi.org/10.1212/WNL.0000000000000077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917687PMC
February 2014

Cortical myoclonus in childhood and juvenile onset Huntington's disease.

Parkinsonism Relat Disord 2012 Jul 10;18(6):794-7. Epub 2012 Apr 10.

Dept. of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2012.03.011DOI Listing
July 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

Enhanced frontocentral EEG connectivity in photosensitive generalized epilepsies: a partial directed coherence study.

Epilepsia 2012 Feb 22;53(2):359-67. Epub 2011 Dec 22.

Department of Neurophysiology, Epilepsy Centre, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03352.xDOI Listing
February 2012

Characterization of severe action myoclonus in sialidoses.

Epilepsy Res 2011 Mar 16;94(1-2):86-93. Epub 2011 Feb 16.

Dept of Neurophysiopathology, IRCCS Foundation Carlo Besta Neurological Institute, Milano, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S092012111100032
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http://dx.doi.org/10.1016/j.eplepsyres.2011.01.013DOI Listing
March 2011

EEG-EMG coherence estimated using time-varying autoregressive models in movement-activated myoclonus in patients with progressive myoclonic epilepsies.

Annu Int Conf IEEE Eng Med Biol Soc 2010 ;2010:1642-5

Dept. of Neurophysiology and Diagnostic Epileptology, Fondazione IRCCS Istituto Neurologico C. Besta Milano, Italy.

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http://dx.doi.org/10.1109/IEMBS.2010.5626652DOI Listing
April 2011

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease.

Epilepsy Res 2010 May 1;89(2-3):232-7. Epub 2010 Feb 1.

Dept. of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation Carlo Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2010.01.006DOI Listing
May 2010

A CDKL5 mutated child with precocious puberty.

Am J Med Genet A 2009 May;149A(5):1046-51

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32806DOI Listing
May 2009

The neuropsychological pattern of Unverricht-Lundborg disease.

Epilepsy Res 2009 Apr 3;84(2-3):217-23. Epub 2009 Mar 3.

Neuropsychology Laboratory, C. Besta National Neurological Institute, Milano, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2009.02.004DOI Listing
April 2009

ICTAL EEG fast activity in West syndrome: from onset to outcome.

Epilepsia 2007 Nov 6;48(11):2101-10. Epub 2007 Sep 6.

C. Besta Foundation Neurological Institute, Via Celoria 11, Milan, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01264.xDOI Listing
November 2007

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

Mov Disord 2006 Sep;21(9):1453-6

Department of Neurophysiology and Epileptology, Carlo Besta National Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1002/mds.20984DOI Listing
September 2006

A pilot study of a ketogenic diet in patients with Lafora body disease.

Epilepsy Res 2006 May 28;69(2):129-34. Epub 2006 Feb 28.

Department of Child Neuropsychiatry, Child EEG Unit, Foundation C. Mondino Institute of Neurology Via Mondino 2, 27100 Pavia, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2006.01.007DOI Listing
May 2006

Rhythmic cortical myoclonus in a case of HIV-related encephalopathy.

Mov Disord 2003 Dec;18(12):1533-8

Department of Clinical Neurophysiology; Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/mds.10584DOI Listing
December 2003