Caterina Mariotti

Caterina Mariotti

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Caterina Mariotti

Publications by authors named "Caterina Mariotti"

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From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.

Am J Med Genet A 2019 Nov 22;179(11):2277-2283. Epub 2019 Aug 22.

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61339DOI Listing
November 2019

Spinocerebellar ataxia.

Nat Rev Dis Primers 2019 04 11;5(1):24. Epub 2019 Apr 11.

Department of Neurology, University of Michigan, Ann Arbor, MI, USA.

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http://www.nature.com/articles/s41572-019-0074-3
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http://dx.doi.org/10.1038/s41572-019-0074-3DOI Listing
April 2019

Nonataxia symptoms in Friedreich Ataxia: Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).

Neurology 2018 09 10;91(10):e917-e930. Epub 2018 Aug 10.

From the Department of Neurology (K.R., I.D., C.H., C.D., J.B.S.), RWTH Aachen University; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging (K.R., I.D., C.H., C.D., J.B.S.), Forschungszentrum Jülich GmbH and RWTH Aachen University, Germany; Department of Molecular Neuroscience (P.G.), Ataxia Center, UCL Institute of Neurology, London, UK; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; ICM (Brain and Spine Institute) Sorbonne Universités (A.D.), UPMC Univ Paris 06 UMR S 1127, and INSERM U 1127, CNRS UMR 7225 and APHP, Pitié-Salpêtrière University Hospital, Genetic Department, Paris, France; Department of Neurology (S.B.), Medical University Innsbruck, Austria; Department of Neurology (T.K.), Friedrich Baur Institute, University Hospital of the Ludwig-Maximilians-Universität München; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Munich, Germany; Reference Unit of Hereditary Ataxias and Paraplegias (F.J.R.d.R.G.), Department of Neurology, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Department of Neurodegenerative Diseases (L.S.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Department of Neurology (I.G.), University Hospital of Bonn; German Center for Neurodegenerative Diseases (DZNE) (I.G.), Bonn; Department of Neurology (K.B.), Philipps University of Marburg, Germany; and Laboratory of Experimental Neurology (M.P.), Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1212/WNL.0000000000006121DOI Listing
September 2018

Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease.

Parkinsonism Relat Disord 2018 06 23;51:17-23. Epub 2018 Feb 23.

Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.02.033DOI Listing
June 2018

Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients.

Neurosci Lett 2018 06 30;678:37-42. Epub 2018 Apr 30.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Foundation Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.neulet.2018.04.044DOI Listing
June 2018

Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study.

Gait Posture 2017 09 17;57:11-14. Epub 2017 May 17.

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gaitpost.2017.05.007DOI Listing
September 2017

CADASIL: Treatment and Management Options.

Curr Treat Options Neurol 2017 Sep;19(9):31

Cerebrovascular Unit, Carlo Besta Neurological Institute IRCCS Foundation, Via Celoria 23, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s11940-017-0468-zDOI Listing
September 2017

Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research.

Expert Rev Neurother 2017 Sep 13;17(9):919-931. Epub 2017 Aug 13.

a Unit of Genetics of Neurodegenerative and Metabolic Diseases , Fondazione IRCCS Istituto Neurologico Carlo Besta , Milan , Italy.

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http://dx.doi.org/10.1080/14737175.2017.1364628DOI Listing
September 2017

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.

Lancet Neurol 2016 Dec;15(13):1346-1354

Department of Neurology, RWTH Aachen University, Aachen, Germany; JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30287-3DOI Listing
December 2016

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Neurol Sci 2016 Nov 21;37(11):1815-1821. Epub 2016 Jul 21.

Department of Neurosciences, Neuromuscular Center, University of Padova, Via Giustiniani 5, 35128, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-016-2666-yDOI Listing
November 2016

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Neurol Genet 2016 Oct 25;2(5):e98. Epub 2016 Aug 25.

Cambridge Institute for Medical Research (J.H., J.R.E.), University of Cambridge, Addenbrooke's Hospital, UK; Children's Health Research Center (M.M., A.Y.), Cancer Biology Research Center, Sanford Research, Sioux Falls; Neurogenetics Group (K.S., T.D., J.B., P.D.J.), Department of Molecular Genetics VIB, Antwerp, Belgium; Department of Neurology (K.S., J.B., P.D.J.), Antwerp University Hospital, Belgium; Laboratories of Neurogenetics and Neuropathology (K.S., T.D., J.B., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (L.S., J. Liepert), Hertie Institute for Clinical Brain Research, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (J. Li), Vanderbilt University, Nashville, TN; Department of Ophthalmology (E.V.A.), Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; National Eye Institute (M.B.D.), National Institutes of Health, Bethesda, MD; Cell Biology Section (R.H.R., C.B.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology (R.H.R.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neurorehabilitation (J. Liepert), Kliniken Schmieder, Allensbach, Germany; Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), Miller School of Medicine, University of Miami, FL; Genetics of Neurodegenerative and Metabolic Diseases Unit (C.M.), IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy; Departments of Child Health, Neurology & Genetics (M.C.K.), University of Arizona College of Medicine, Phoenix; Program in Neuroscience (M.C.K.), Arizona State University, Tempe; and Pediatric Movement Disorders Program and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5001803PMC
October 2016

MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases.

Invest Ophthalmol Vis Sci 2016 05;57(6):2714-20

Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS-Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1167/iovs.15-18732DOI Listing
May 2016

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.

J Neurol 2016 Feb 14;263(2):245-249. Epub 2015 Nov 14.

Neuroalgology and Headache Unit, IRCCS Foundation, "Carlo Besta" Neurological Institute, Via Celoria, 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-015-7951-9DOI Listing
February 2016

Quantifiable evaluation of cerebellar signs in children.

Neurology 2015 Mar 25;84(12):1225-32. Epub 2015 Feb 25.

From the Biostatistics Unit (A.F.P., S.T.d.M.) and Genetic Department (A.D.), AP-HP, Groupe Hospitalier Pitié-Salpêtrière Charles-Foix, Paris, France; Unit of Genetics of Neurodegenerative and Metabolic Diseases (C.M., M. Panzeri), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Molecular Neuroscience (P.G.), Institute of Neurology, UCL London, UK; Medical University Innsbruck (S.B.), Austria; Department of Neurology and JARA-Translational Brain Medicine (J.B.S.), Rheinisch-Westfälische Technische Hochschule, Aachen University, Germany; Department of Neurology (M. Pandolfo), Université Libre de Bruxelles, Belgium; Institut du Cerveau et de la Moelle épinière (A.D.), ICM, Paris; INSERM (A.D.), U1127, CNRS, UMR 7225, Paris; Sorbonne Universités (A.D.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1127, Paris; Sorbonne Universités (S.T.d.M.), Université Pierre et Marie Curie Univ Paris 06, UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris; and INSERM (S.T.d.M.), UMR_S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000001403DOI Listing
March 2015

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.

Lancet Neurol 2015 Feb 5;14(2):174-82. Epub 2015 Jan 5.

Department of Neurology, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Centre for Rare Diseases, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; Clinical Trial Centre, University Hospital Rheinisch-Westfälische Technische Hochschule [RWTH], Aachen, Aachen, Germany; JARA-Translational Brain Medicine, Jülich and Aachen, Germany. Electronic address:

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http://idipaz.es/NoticiasAdjuntos/231_The%20Lancet%20Neurolo
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http://linkinghub.elsevier.com/retrieve/pii/S147444221470321
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http://dx.doi.org/10.1016/S1474-4422(14)70321-7DOI Listing
February 2015

Very late-onset friedreich ataxia with laryngeal dystonia.

Case Rep Neurol 2014 Sep-Dec;6(3):287-90. Epub 2014 Dec 12.

Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.

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http://dx.doi.org/10.1159/000370062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296233PMC
February 2015

Temporal disruption of upper-limb anticipatory postural adjustments in cerebellar ataxic patients.

Exp Brain Res 2015 Jan 23;233(1):197-203. Epub 2014 Sep 23.

Sezione di Fisiologia Umana - DePT, Università degli Studi di Milano, Via Mangiagalli 32, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00221-014-4103-xDOI Listing
January 2015

Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.

Ann Neurol 2014 Oct 30;76(4):509-21. Epub 2014 Aug 30.

Department of Neurology, Erasme Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1002/ana.24248DOI Listing
October 2014

Effects of sapropterin on endothelium-dependent vasodilation in patients with CADASIL: a randomized controlled trial.

Stroke 2014 Oct 2;45(10):2959-66. Epub 2014 Sep 2.

From the CNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda Hospital, Milan, Italy (R.D.M., J.C., M.P., O.P.); CNR Institute of Translational Pharmacology, Rome, Italy (M.F.); Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy (F.T., C.M., C.T.); Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy (A. Federico, M.T.D., M.L.S.); NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy (D.I., R.V.); Department of Epidemiology, IRCCS Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy (A.T., C.P.); Department of Neuroscience, Mental Health and Sensory Organs (NESMOS) and Center for Experimental Neurological Therapies, Sant'Andrea Hospital, University of Rome "La Sapienza", Rome, Italy (S.R., F.O.); Neurovascular Treatment Unit, University of Rome "La Sapienza" Rome, Italy (E.P., A. Francia); and Stroke Unit and Neurology, Azienda Ospedaliera Universitaria Careggi, Florence, Italy (L.P., F.P.).CNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda HospitalCNR Institute of Clinical Physiology, CardioThoracic and Vascular Department, Niguarda Ca' Granda Hospital;Department of Medicine, Surgery and Neurosciences, University of Siena.

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http://dx.doi.org/10.1161/STROKEAHA.114.005937DOI Listing
October 2014

Somatosensory conduction pathway in spastic paraplegia type 5.

J Clin Neurol 2014 Oct 6;10(4):373-4. Epub 2014 Oct 6.

Genetics of Neurodegenerative and Metabolic Diseases Unit, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.3988/jcn.2014.10.4.373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198723PMC
October 2014

The cerebellum and visual perceptual learning: evidence from a motion extrapolation task.

Cortex 2014 Sep 2;58:52-71. Epub 2014 Jun 2.

Department of Neurological and Movement Sciences, University of Verona, Verona, Italy; National Institute of Neuroscience, Verona, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2014.04.017DOI Listing
September 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

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http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

Impaired temporal processing of tactile and proprioceptive stimuli in cerebellar degeneration.

PLoS One 2013 11;8(11):e78628. Epub 2013 Nov 11.

Department of Neurological, Psychological, Morphological and Motor Sciences, University of Verona, Verona, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0078628PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823840PMC
July 2014

Frontal cortex BOLD signal changes in premanifest Huntington disease: a possible fMRI biomarker.

Neurology 2014 Jul 4;83(1):65-72. Epub 2014 Jun 4.

From the Neuroradiology Department (S.F., F.G., F.E., A.N., M.G.B., M.S., M.G.), Unit of Genetics of Neurodegenerative and Metabolic Diseases, Clinical Pathology and Medical Genetics (L.N., F.T., S.D., C.M.), and Health Department (S.P., N.B., F.G.), Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy; and the Memory and Aging Center (M.L.M.), Department of Neurology, University of California San Francisco.

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http://dx.doi.org/10.1212/WNL.0000000000000538DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114171PMC
July 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

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http://www.neurology.org/content/82/23/2063.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Is the oxidant/antioxidant status altered in CADASIL patients?

PLoS One 2013 14;8(6):e67077. Epub 2013 Jun 14.

Community Networking Resources Institute of Clinical Physiology, Cardiothoracic and Vascular Department, Niguarda Ca' Granda Hospital, Milan, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0067077PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3682996PMC
January 2014

Erythropoietin in Friedreich ataxia.

J Neurochem 2013 Aug;126 Suppl 1:80-7

Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS-Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/jnc.12301DOI Listing
August 2013

Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

J Neurochem 2013 Aug;126 Suppl 1:103-17

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/jnc.12317DOI Listing
August 2013

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling.

Neurobiol Aging 2012 Aug 16;33(8):1847.e15-21. Epub 2012 Mar 16.

Genetics of Neurodegenerative and Metabolic Disorders, Fondazione-IRCCS, Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.02.004DOI Listing
August 2012

Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial.

Mov Disord 2012 Mar 4;27(3):446-9. Epub 2012 Jan 4.

SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.

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http://doi.wiley.com/10.1002/mds.24066
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http://dx.doi.org/10.1002/mds.24066DOI Listing
March 2012

Spinocerebellar ataxia type 1.

Handb Clin Neurol 2012 ;103:399-421

UO Biochimica e Genetics, IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00025-5DOI Listing
December 2011

Spinocerebellar ataxia type 28.

Handb Clin Neurol 2012 ;103:575-9

Unitâ di Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

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http://dx.doi.org/10.1016/B978-0-444-51892-7.00039-5DOI Listing
December 2011

Choice-option evaluation is preserved in early Huntington and Parkinson's disease.

Neuroreport 2011 Oct;22(15):753-7

Scientific Department, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milano, Italy.

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http://dx.doi.org/10.1097/WNR.0b013e32834acb6eDOI Listing
October 2011

Analysis of the repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy of non-neuronal genes in peripheral lymphocytes from patients with Huntington's disease.

Brain Pathol 2010 Jan 23;20(1):96-105. Epub 2008 Dec 23.

Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1111/j.1750-3639.2008.00249.xDOI Listing
January 2010

Immunological reactivity against neuronal and non-neuronal antigens in sporadic adult-onset cerebellar ataxia.

Eur Neurol 2009 26;62(6):356-61. Epub 2009 Sep 26.

SOD Genetica delle Malattie Neurodegenerative e Metaboliche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italia.

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http://dx.doi.org/10.1159/000242010DOI Listing
January 2010

Expressed Alu repeats as a novel, reliable tool for normalization of real-time quantitative RT-PCR data.

Genome Biol 2010 Jan 28;11(1):R9. Epub 2010 Jan 28.

Department of Pharmacological Sciences and Center for Stem Cell Research, University of Milan, 9 Via Balzaretti, Milan, 20133, Italy.

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http://dx.doi.org/10.1186/gb-2010-11-1-r9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847721PMC
January 2010

Diagnosis and treatment of Friedreich ataxia: a European perspective.

Nat Rev Neurol 2009 Apr;5(4):222-34

Department of Neurology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, Aachen, Germany.

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http://www.nature.com/articles/nrneurol.2009.26
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http://dx.doi.org/10.1038/nrneurol.2009.26DOI Listing
April 2009

Visual system involvement in patients with Friedreich's ataxia.

Brain 2009 Jan 18;132(Pt 1):116-23. Epub 2008 Oct 18.

Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy.

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http://dx.doi.org/10.1093/brain/awn269DOI Listing
January 2009

Plasma 24S-hydroxycholesterol and caudate MRI in pre-manifest and early Huntington's disease.

Brain 2008 Nov 4;131(Pt 11):2851-9. Epub 2008 Sep 4.

Unit Biochemistry and Genetics, Fondazione-IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1093/brain/awn212DOI Listing
November 2008

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Brain 2008 Sep 6;131(Pt 9):2321-31. Epub 2008 Aug 6.

Biochemistry and Genetics Unit, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1093/brain/awn178DOI Listing
September 2008

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Neurogenetics 2007 Nov 17;8(4):289-99. Epub 2007 Aug 17.

UO Biochimica e Genetica, Fondazione IRCCS Istituto Neurologico "Carlo Besta", via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1007/s10048-007-0101-5DOI Listing
November 2007

Progressive dysfunction of the cholesterol biosynthesis pathway in the R6/2 mouse model of Huntington's disease.

Neurobiol Dis 2007 Oct 10;28(1):133-42. Epub 2007 Jul 10.

Department of Pharmacological Sciences and Centre for Stem Cell Research, University of Milan, Via Balzaretti 9, 20133 Milan, Italy.

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http://dx.doi.org/10.1016/j.nbd.2007.07.004DOI Listing
October 2007

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

Brain 2006 Jan 26;129(Pt 1):235-42. Epub 2005 Oct 26.

Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

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http://dx.doi.org/10.1093/brain/awh651DOI Listing
January 2006

An overview of the patient with ataxia.

J Neurol 2005 May;252(5):511-8

Istituto Nazionale Neurologico, C. Besta IRCCS, via Celoria, 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-005-0814-zDOI Listing
May 2005

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Arch Neurol 2004 May;61(5):727-33

Dipartimento di Genetica, Biologia e Biochimica, Università di Torino and Unitá Operativa Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

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http://dx.doi.org/10.1001/archneur.61.5.727DOI Listing
May 2004

Aberrant A2A receptor function in peripheral blood cells in Huntington's disease.

FASEB J 2003 Nov 4;17(14):2148-50. Epub 2003 Sep 4.

Department of Clinical and Experimental Medicine, Pharmacology Unit, University of Ferrara, Italy.

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http://dx.doi.org/10.1096/fj.03-0079fjeDOI Listing
November 2003

Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.

Mov Disord 2002 May;17(3):612-4

Department of Neuropediatrics, National Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1002/mds.10026DOI Listing
May 2002

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Neuromuscul Disord 2002 Jan;12(1):49-52

Division of Biochemistry and Genetics, National Neurological Institute C. Besta via Celoria, 11. 20133 Milan, Italy.

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January 2002