Grazia Annesi

Grazia Annesi

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Grazia Annesi

Grazia Annesi

Publications by authors named "Grazia Annesi"

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Genetic mutation analysis of the COQ2 gene in Italian patients with multiple system atrophy.

Gene 2019 Oct 6;716:144037. Epub 2019 Aug 6.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Neuroscience Research Center, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.gene.2019.144037DOI Listing
October 2019

Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.

J Neurol Sci 2019 Sep 12;404:16-18. Epub 2019 Jul 12.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Neuroscience Research Center, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2019.07.017DOI Listing
September 2019

DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.

Parkinsonism Relat Disord 2018 10 4;55:134-137. Epub 2018 Jun 4.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Neuroscience Research Center, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2018.06.004DOI Listing
October 2018

Analysis of the TMEM230 gene in patients with multiple system atrophy.

J Neurol Sci 2018 09 23;392:128-129. Epub 2018 Jul 23.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Neuroscience Research Center, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2018.07.019DOI Listing
September 2018

Mutational analysis of TARDBP gene in patients affected by Parkinson's disease from Calabria.

J Neurol Sci 2018 07 1;390:209-211. Epub 2018 May 1.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Neuroscience Research Center, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2018.04.043DOI Listing
July 2018

A new CHCHD2 mutation identified in a southern italy patient with multiple system atrophy.

Parkinsonism Relat Disord 2018 02 7;47:91-93. Epub 2017 Dec 7.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2017.12.005DOI Listing
February 2018

Corrigendum to "A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy" [J. Neurol. Sci. 381C (2017) 209-212].

J Neurol Sci 2018 02 15;385:238. Epub 2017 Dec 15.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2017.12.002DOI Listing
February 2018

Camptocormia as presenting in lower motor neuron disease with TARDBP mutation: case report.

Neurol Sci 2017 10 1;38(10):1885-1887. Epub 2017 Jun 1.

Institute of Neurology, University Magna Graecia of Catanzaro, Germaneto, Catanzaro, Italy.

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http://dx.doi.org/10.1007/s10072-017-3005-7DOI Listing
October 2017

A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy.

J Neurol Sci 2017 Oct 1;381:209-212. Epub 2017 Sep 1.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2017.08.3260DOI Listing
October 2017

Analysis of CHCHD2 gene in familial Parkinson's disease from Calabria.

Neurobiol Aging 2017 02 21;50:169.e5-169.e6. Epub 2016 Oct 21.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.10.022DOI Listing
February 2017

A SLC20A2 mutation identified in an asymptomatic patient with brain calcification.

J Neurol Sci 2017 Jan 17;372:70-72. Epub 2016 Nov 17.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2016.11.038DOI Listing
January 2017

Mutational analysis of COASY in an Italian patient with NBIA.

Parkinsonism Relat Disord 2016 07 18;28:150-1. Epub 2016 Mar 18.

Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2016.03.011DOI Listing
July 2016

Role of G-protein coupled receptor kinase 5 gene in cognitive impairment in Parkinson's disease.

Psychiatry Res 2015 Dec 17;230(3):975-7. Epub 2015 Nov 17.

Neuroimaging Research Unit, IBFM-CNR, Catanzaro, Italy; Institute of Neurology, University "Magna Graecia", Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.psychres.2015.11.026DOI Listing
December 2015

A new SLC20A2 mutation identified in southern Italy family with primary familial brain calcification.

Gene 2015 Aug 7;568(1):109-11. Epub 2015 May 7.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.gene.2015.05.005DOI Listing
August 2015

Fahr's disease linked to a novel SLC20A2 gene mutation manifesting with dynamic aphasia.

Neurodegener Dis 2014 25;14(3):133-8. Epub 2014 Sep 25.

Department of Neurology, San Gerardo Hospital, Milan Center for Neuroscience, Monza, Italy.

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http://dx.doi.org/10.1159/000365216DOI Listing
July 2015

C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.

Parkinsonism Relat Disord 2015 Jul 23;21(7):813-6. Epub 2015 Apr 23.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2015.04.009DOI Listing
July 2015

Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation.

J Neurol Sci 2015 Jul 24;354(1-2):112-3. Epub 2015 Apr 24.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Aurgi Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.jns.2015.04.026DOI Listing
July 2015

TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.

Parkinsonism Relat Disord 2015 Mar 24;21(3):306-9. Epub 2014 Dec 24.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra (CIMA), Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Instituto de Salud Carlos III, Madrid, Spain; Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2014.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408541PMC
March 2015

PCDH19 mutations in female patients from Southern Italy.

Seizure 2015 Jan 30;24:118-20. Epub 2014 Aug 30.

Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto (CZ), Italy; Institute of Neurology, Department of Medical and AurgivSciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.seizure.2014.08.010DOI Listing
January 2015

Frequency of the ASP620ASN mutation in VPS35 and Arg1205His mutation in EIF4G1 in familial Parkinson's disease from South Italy.

Neurobiol Aging 2014 Oct 26;35(10):2422.e1-2. Epub 2014 Apr 26.

Section of Neuroimaging, Institute of Molecular Bioimaging and Physiology, National Research Council, Catanzaro, Italy; Institute of Neurology, Department of Medical Sciences, University Magna Graecia, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.04.020DOI Listing
October 2014

Spinocerebellar ataxia type 7: report of a new Italian family.

Intern Med 2012 15;51(20):2953-5. Epub 2012 Oct 15.

IRCCS Centro Neurolesi Bonino Pulejo, Italy.

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http://dx.doi.org/10.2169/internalmedicine.51.8090DOI Listing
August 2013

Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.

Epilepsia 2013 May 8;54(5):927-35. Epub 2013 Feb 8.

Institute of Molecular and Cellular Pharmacology, LabEx ICST, CNRS UMR7275, University of Nice-Sophia Antipolis, Valbonne, France.

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http://dx.doi.org/10.1111/epi.12123DOI Listing
May 2013

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

J Med Genet 2012 Nov;49(11):721-6

Department. of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen, Hoppe-Seyler-Str. 3, Tübingen 72076, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2012-101155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488700PMC
November 2012

Generalised epilepsy with febrile seizures plus (GEFS(+)): molecular analysis in a restricted area.

Childs Nerv Syst 2012 Jan 20;28(1):141-5. Epub 2011 Oct 20.

National Centre for Rare Diseases, Superior Institute of Health, Rome, Italy.

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http://link.springer.com/10.1007/s00381-011-1592-9
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http://dx.doi.org/10.1007/s00381-011-1592-9DOI Listing
January 2012

Dysbindin C-A-T haplotype is associated with thicker medial orbitofrontal cortex in healthy population.

Neuroimage 2011 Mar 22;55(2):508-13. Epub 2010 Dec 22.

Neuroimaging Research Unit, Institute of Neurological Sciences, National Research Council, Catanzaro, Italy.

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http://dx.doi.org/10.1016/j.neuroimage.2010.12.042DOI Listing
March 2011

HOMER1 promoter analysis in Parkinson's disease: association study with psychotic symptoms.

Neuropsychobiology 2009 31;59(4):239-45. Epub 2009 Jul 31.

Department of Neuroscience and Behavioural Sciences, Section of Psychiatry, Naples, Italy.

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http://dx.doi.org/10.1159/000230689DOI Listing
October 2009

Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.

Parkinsonism Relat Disord 2009 May 22;15(4):324-6. Epub 2008 Aug 22.

Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2008.07.001DOI Listing
May 2009

Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation.

Epilepsia 2007 Sep 12;48(9):1691-1696. Epub 2007 Jun 12.

Institute of Neurology, University Magna Graecia, CatanzaroInstitute of Neurological Sciences, National Research Council, Piano Lago di Mangone, CosenzaDepartment of Neurophysiopathogy, Istituto Neurologico C. Besta, MilanoDepartment of Biotechnologies and Biosciences, University of Milano Bicocca, MilanoCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoRegional Centre of Epilepsy, San Paolo Hospital, Milano, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01153.xDOI Listing
September 2007

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Epilepsia 2007 Sep 18;48(9):1686-1690. Epub 2007 Jul 18.

Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01173.xDOI Listing
September 2007

Oxidative stress in myotonic dystrophy type 1.

Free Radic Res 2005 Jul;39(7):771-6

Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.

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http://dx.doi.org/10.1080/10715760500138932DOI Listing
July 2005

Startle epilepsy complicating aspartylglucosaminuria.

Brain Dev 2004 Mar;26(2):130-3

Institute of Neurology, School of Medicine, University Magna Graecia, Via T. Campanella, Italy.

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http://dx.doi.org/10.1016/S0387-7604(03)00069-XDOI Listing
March 2004

Cardiovascular autonomic control in myotonic dystrophy type 1: a correlative study with clinical and genetic data.

Neuromuscul Disord 2004 Feb;14(2):136-41

Department of Neurosciences, Psychiatry and Anaesthesiology, Clinica Neurologica 2, Policlinico Universitario, 98125 Messina, Italy.

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February 2004

Familial essential tremor is not associated with SCA-12 mutation in southern Italy.

Mov Disord 2002 Jul;17(4):837-8

Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.

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http://dx.doi.org/10.1002/mds.10191DOI Listing
July 2002