Publications by authors named "Maria Teresa Dotti"

99Publications

Eye movement changes in autosomal dominant spinocerebellar ataxias.

Neurol Sci 2020 Jul 4;41(7):1719-1734. Epub 2020 Mar 4.

Department of Medicine Surgery and Neuroscience, Eye Tracking& Visual Application Lab EVALAB, Neurology and Neurometabolic Unit, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-020-04318-4DOI Listing
July 2020

HTRA1 expression profile and activity on TGF-β signaling in HTRA1 mutation carriers.

J Cell Physiol 2020 Oct 4;235(10):7120-7127. Epub 2020 Feb 4.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/jcp.29609DOI Listing
October 2020

Primary familial brain calcification caused by MYORG mutations in an Italian family.

Parkinsonism Relat Disord 2019 10 17;67:24-26. Epub 2019 Sep 17.

Erasmus MC, University Medical Center Rotterdam, Department of Clinical Genetics, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.parkreldis.2019.09.021DOI Listing
October 2019

Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions.

Front Neurol 2018 23;9:274. Epub 2018 Apr 23.

Eye-Tracking and Visual Application Laboratory (EVALab), Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.3389/fneur.2018.00274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926529PMC
April 2018

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Biochem Biophys Res Commun 2018 06 13;500(2):158-162. Epub 2018 Apr 13.

Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2018.04.009DOI Listing
June 2018

Brachial plexopathy due to breast cancer metastases: electrophysiological and imaging findings.

Neurol Sci 2018 08 15;39(8):1503-1505. Epub 2018 Mar 15.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-018-3320-7DOI Listing
August 2018

Discordant manifestations in Italian brothers with GNE myopathy.

J Neurol Sci 2018 03 5;386:1-3. Epub 2018 Jan 5.

Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2018.01.002DOI Listing
March 2018

SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment.

J Neurol Sci 2017 12 16;383:39-41. Epub 2017 Oct 16.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2017.10.022DOI Listing
December 2017

Imaging of the thymus in myotonic dystrophy type 1.

Neurol Sci 2018 Feb 25;39(2):347-351. Epub 2017 Nov 25.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://link.springer.com/10.1007/s10072-017-3202-4
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http://dx.doi.org/10.1007/s10072-017-3202-4DOI Listing
February 2018

Lower medulla hypoplasia in Friedreich ataxia: MR Imaging confirmation 140 years later.

J Neurol 2017 Jul 15;264(7):1526-1528. Epub 2017 Jun 15.

Department of Electrical, Electronic, and Information Engineering "Guglielmo Marconi", University of Bologna, Cesena, Italy.

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http://dx.doi.org/10.1007/s00415-017-8542-8DOI Listing
July 2017

Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Neurol Sci 2017 Jul 4;38(7):1333-1336. Epub 2017 Apr 4.

Unit of Neurology and Neurometabolic Disorders, Department of Medical, Surgical and Neurological Sciences, University of Siena, Viale Bracci 1, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-017-2900-2DOI Listing
July 2017

The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.

J Neurol 2017 May 21;264(5):862-874. Epub 2017 Mar 21.

Unit of Diagnostic and Therapeutic Neuroradiology, Azienda Ospedaliera Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-017-8440-0DOI Listing
May 2017

Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.

Mitochondrion 2017 05 2;34:101-102. Epub 2017 Mar 2.

Department of Surgical and Medical Sciences, University of Bologna, via Massarenti 9, Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.02.006DOI Listing
May 2017

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita.

Neurophysiol Clin 2017 Jun 30;47(3):247-252. Epub 2017 Jan 30.

Department of Medical, Surgical and Neurological Sciences, Neurology-Neurophysiology Unit, University of Siena, Policlinico Le Scotte, Viale Bracci 1, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.neucli.2017.01.003DOI Listing
June 2017

Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.

Brain Dev 2017 Mar 11;39(3):261-265. Epub 2016 Oct 11.

Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.braindev.2016.09.013DOI Listing
March 2017

C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease.

Neurol Sci 2017 Jan 19;38(1):207-208. Epub 2016 Sep 19.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-016-2709-4DOI Listing
January 2017

Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders.

J Neurol Sci 2016 Sep 25;368:359-68. Epub 2016 Jul 25.

Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.07.047DOI Listing
September 2016

Nicolaides-Baraitser syndrome: defining a phenotype.

J Neurol 2016 Aug 10;263(8):1659-60. Epub 2016 Jun 10.

Neurodegenerative Disease Unit, Department of Medical, Surgical, and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-016-8194-0DOI Listing
August 2016

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.

J Neurol 2016 Jul 25;263(7):1449-51. Epub 2016 Apr 25.

Dipartimento di Medicina, Clinica Neurologica, Università degli Studi di Perugia, Ospedale S. Maria della Misericordia, 06156, Perugia, Italy.

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http://dx.doi.org/10.1007/s00415-016-8120-5DOI Listing
July 2016

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

J Neurol Sci 2016 Mar 4;362:287-91. Epub 2016 Feb 4.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2016.02.007DOI Listing
March 2016

Treatment of SPG5 with cholesterol-lowering drugs.

J Neurol 2015 Dec 14;262(12):2783-5. Epub 2015 Nov 14.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://link.springer.com/content/pdf/10.1007/s00415-015-7971
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http://link.springer.com/10.1007/s00415-015-7971-5
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http://dx.doi.org/10.1007/s00415-015-7971-5DOI Listing
December 2015

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.

J Alzheimers Dis 2015 ;47(2):319-22

Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.

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http://dx.doi.org/10.3233/JAD-150097DOI Listing
July 2016

Regional Cerebral Disease Progression in Friedreich's Ataxia: A Longitudinal Diffusion Tensor Imaging Study.

J Neuroimaging 2016 Mar-Apr;26(2):197-200. Epub 2015 Jul 14.

Department of Electrical, Electronic, and Information Engineering "Guglielmo Marconi,", University of Bologna, Cesena, Italy.

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http://dx.doi.org/10.1111/jon.12270DOI Listing
January 2017

Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2016 Jan 8;39(1):75-83. Epub 2015 Jul 8.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9873-1
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http://dx.doi.org/10.1007/s10545-015-9873-1DOI Listing
January 2016

Operationalizing mild cognitive impairment criteria in small vessel disease: the VMCI-Tuscany Study.

Alzheimers Dement 2016 Apr 13;12(4):407-18. Epub 2015 Jun 13.

NEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy; Stroke Unit and Neurology, Azienda Ospedaliero Universitaria Careggi, Florence, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2015.02.010DOI Listing
April 2016

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

J Neurol Sci 2015 Apr 6;351(1-2):99-108. Epub 2015 Mar 6.

Department of Medicine, Surgery and Neurosciences, University of Siena, V.le Bracci, 2, 53100 Siena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.02.047DOI Listing
April 2015

Ataxia with oculomotor apraxia type 2: not always an easy diagnosis.

Neurol Sci 2015 Aug 19;36(8):1505-7. Epub 2015 Mar 19.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-015-2119-zDOI Listing
August 2015

Primary familial brain calcification: update on molecular genetics.

Neurol Sci 2015 May 17;36(5):787-94. Epub 2015 Feb 17.

Department of Medicine, Surgery and Neurosciences, University of Siena, 53100, Siena, Italy,

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http://link.springer.com/content/pdf/10.1007/s10072-015-2110
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http://link.springer.com/10.1007/s10072-015-2110-8
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http://dx.doi.org/10.1007/s10072-015-2110-8DOI Listing
May 2015

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.

J Neurol Sci 2015 Feb 3;349(1-2):254-5. Epub 2015 Jan 3.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X140080
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http://dx.doi.org/10.1016/j.jns.2014.12.040DOI Listing
February 2015

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

J Neurol 2015 Jan 26;262(1):134-41. Epub 2014 Oct 26.

Department of Medical, Surgical and Neurological Sciences Medical School, University of Siena, Viale Bracci 2, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-014-7533-2DOI Listing
January 2015

Primary familial brain calcification: Genetic analysis and clinical spectrum.

Mov Disord 2014 Nov 4;29(13):1691-5. Epub 2014 Oct 4.

Department of Medicine, Surgery and Neurosciences, University of Siena, Italy; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/mds.26053DOI Listing
November 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

Temporal lobe abnormalities in neurosyphilis.

Pract Neurol 2014 Dec 28;14(6):449-50. Epub 2014 Aug 28.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1136/practneurol-2014-000927DOI Listing
December 2014

Update on several/certain adult-onset genetic leukoencephalopathies: clinical signs and molecular confirmation.

J Alzheimers Dis 2014 ;42 Suppl 3:S27-35

Department of Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.

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http://dx.doi.org/10.3233/JAD-141026DOI Listing
June 2015

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Brain 2014 Jun 10;137(Pt 6):1643-55. Epub 2014 Apr 10.

1 Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy 2 IRCCS Istituto delle Scienze Neurologiche di Bologna, AUSL di Bologna, Bologna, Italy

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http://brain.oxfordjournals.org/content/brain/early/2014/04/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu069DOI Listing
June 2014

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

J Neurol Sci 2014 Jun 19;341(1-2):176-8. Epub 2014 Mar 19.

Department of Medicine, Surgery and Neurosciences, University of Siena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.03.030DOI Listing
June 2014

Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study.

PLoS One 2014 25;9(2):e89410. Epub 2014 Feb 25.

Medical Physics Section, Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy ; Department of Radiology, Athinoula A. Martinos Center for Biomedical Imaging, Boston, Massachusetts, United States of America ; Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0089410PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3934889PMC
December 2014

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.

Neurol Sci 2014 Aug 2;35(8):1303-5. Epub 2014 Mar 2.

Medical Genetics Unit, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano, TO, Italy,

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http://dx.doi.org/10.1007/s10072-014-1696-6DOI Listing
August 2014

Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.

Stroke 2014 Apr 27;45(4):968-72. Epub 2014 Feb 27.

From Institute for Stroke and Dementia Research (C.O., M.G., M. Duering, R.M., M. Dichgans), and Department of Neurology (C.O.), Klinikum der Universität München, Ludwig-Maximilians-University, Munich, Germany; Department of Neurology, DHU NeuroVasc, Hopital Lariboisiere, APHP, Paris, France (E.J., H.C.); Université Paris Diderot, Sorbonne Paris Cité, Génétique des Maladies Vasculaires, INSERM UMR-S740, Paris, France (D.H., E.T.-L.); Stroke and Dementia Research Centre, St George's University of London, London, United Kingdom (P.A.-S., S.B.); Neurology Division and Molecular Medicine Section, Mazzoni Hospital, Ascoli Piceno, Italy (L.P., S.S., M.R.); Department of Medicine, Surgery and Neurosciences, University of Siena, Italy (M.T.D., N.D.S., A.F.); Departments of Radiology (M.L.) and Clinical Genetics (E.M.J.B., S.L.O.), Leiden University Medical Center, Leiden, the Netherlands; Stroke Unit and Neurology, Azienda Ospedaliero Universitaria Careggi, Florence, Italy (F.P., L.P.); BioClinica Inc, Lyon, France (C.P., L.B.); Max-Planck Institute of Psychiatry, Munich, Germany (B.M.-M.); Institute of Human Genetics, Helmholtz Center, Munich, Germany (T.M.); Center for Human Genetic Research and Department of Neurology, Massachusetts General Hospital, Boston, MA (N.R., J.R.); Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom (H.S.M.); Program in Medical and Population Genetics, Broad Institute, Cambridge, MA (J.R.); and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany (M. Dichgans).

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http://stroke.ahajournals.org/content/45/4/968.full.pdf
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http://stroke.ahajournals.org/cgi/doi/10.1161/STROKEAHA.113.
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http://dx.doi.org/10.1161/STROKEAHA.113.004461DOI Listing
April 2014

Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

J Neurol 2014 Apr 16;261(4):768-72. Epub 2014 Feb 16.

Neurology and Neurometabolic Diseases Unit, Department of Medicine, Surgery and Neuroscience, University of Siena, Policlinico "Santa Maria alle Scotte", Viale Bracci, 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-014-7257-3DOI Listing
April 2014

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism.

J Neurol 2014 Mar 8;261(3):617-9. Epub 2014 Feb 8.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-014-7253-7DOI Listing
March 2014

Two novel HTRA1 mutations in a European CARASIL patient.

Neurology 2014 Mar 5;82(10):898-900. Epub 2014 Feb 5.

From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy "Iuliu Hatieganu," Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico "Santa Maria alle Scotte," Siena, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000202DOI Listing
March 2014

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2014 May 18;37(3):421-9. Epub 2014 Jan 18.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10545-013-9674-3DOI Listing
May 2014

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Neurol Sci 2014 Jan 7;35(1):95-7. Epub 2013 Dec 7.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-013-1592-5DOI Listing
January 2014

Homozygosity and severity of phenotypic presentation in a CADASIL family.

Neurol Sci 2014 Jan 26;35(1):91-3. Epub 2013 Nov 26.

Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-013-1580-9DOI Listing
January 2014

Cerebral hemorrhages in CADASIL: report of four cases and a brief review.

J Neurol Sci 2013 Jul 30;330(1-2):45-51. Epub 2013 Apr 30.

Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1016/j.jns.2013.04.002DOI Listing
July 2013

First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

Neurobiol Aging 2013 Sep 12;34(9):2234.e9-12. Epub 2013 Apr 12.

Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.03.005DOI Listing
September 2013

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

JIMD Rep 2012 29;6:43-6. Epub 2012 Jan 29.

Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, Siena, 53100, Italy.

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http://dx.doi.org/10.1007/8904_2011_102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565677PMC
February 2013

Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment.

Calcif Tissue Int 2013 Mar 2;92(3):282-6. Epub 2012 Dec 2.

Department of Internal Medicine, Endocrine-Metabolic Sciences and Biochemistry, University of Siena, Siena, Italy.

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http://link.springer.com/10.1007/s00223-012-9677-3
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http://dx.doi.org/10.1007/s00223-012-9677-3DOI Listing
March 2013

Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis.

Neurol Sci 2013 Sep 5;34(9):1693-6. Epub 2012 Dec 5.

Department of Neuroscience, University of Turin, Via Cherasco, 15, 10126, Turin, Italy,

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http://dx.doi.org/10.1007/s10072-012-1262-zDOI Listing
September 2013

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.

Stroke 2012 Nov 20;43(11):2871-6. Epub 2012 Sep 20.

Department of Neurological and Psychiatric Sciences, University of Florence, and Department of Radiology, Neuroradiology Unit, Careggi University Hospital, Largo Brambilla 3, 50134 Florence, Italy.

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http://dx.doi.org/10.1161/STROKEAHA.112.665927DOI Listing
November 2012

Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients.

Neurol Sci 2013 Apr 10;34(4):553-6. Epub 2012 Aug 10.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Policlinico "Le Scotte", V.le Bracci, 2, 53100 Siena, Italy.

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http://dx.doi.org/10.1007/s10072-012-1174-yDOI Listing
April 2013

Hereditary cerebral small vessel diseases: a review.

J Neurol Sci 2012 Nov 4;322(1-2):25-30. Epub 2012 Aug 4.

Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2012.07.041DOI Listing
November 2012

The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis.

Neuromuscul Disord 2012 Aug 29;22(8):759-62. Epub 2012 May 29.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy.

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http://dx.doi.org/10.1016/j.nmd.2012.03.010DOI Listing
August 2012

Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis.

Parkinsonism Relat Disord 2012 Jan 20;18(1):99-101. Epub 2011 Jul 20.

Neurology and Neurometabolic Unit, Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.parkreldis.2011.06.004DOI Listing
January 2012

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.

J Neurol 2011 Dec 29;258(12):2240-7. Epub 2011 May 29.

Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-011-6106-xDOI Listing
December 2011

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.

J Neurol 2011 Sep 16;258(9):1632-6. Epub 2011 Mar 16.

Department of Neurological and Psychiatric Sciences, University of Florence, Largo Brambilla 3, 50134 Florence, Italy.

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http://dx.doi.org/10.1007/s00415-011-5983-3DOI Listing
September 2011

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

J Neurol Sci 2011 Apr 22;303(1-2):142-5. Epub 2011 Jan 22.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.12.020DOI Listing
April 2011

Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study.

Cerebrovasc Dis 2011 5;31(1):77-82. Epub 2010 Nov 5.

Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Viale Bracci, Siena, Italy.

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http://dx.doi.org/10.1159/000321339DOI Listing
April 2011

CSF Biomarkers Profile in CADASIL-A Model of Pure Vascular Dementia: Usefulness in Differential Diagnosis in the Dementia Disorder.

Int J Alzheimers Dis 2010 Aug 18;2010. Epub 2010 Aug 18.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, 53100 Siena, Italy.

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http://www.hindawi.com/journals/ijad/2010/959257/
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http://dx.doi.org/10.4061/2010/959257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933894PMC
August 2010

Stroke recurrence in an elderly CADASIL patient on aspirin discontinuation due to severe auto-immune thrombocytopenia.

Aging Clin Exp Res 2010 Feb;22(1):98-9

Department of Neurological and Psychiatric Sciences, University of Florence, Italy.

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http://dx.doi.org/10.1007/BF03324822DOI Listing
February 2010

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

Neurol Sci 2010 Aug 16;31(4):491-4. Epub 2010 Mar 16.

Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s10072-010-0225-5DOI Listing
August 2010

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation.

J Neurol 2010 Apr 13;257(4):575-9. Epub 2009 Nov 13.

Medical Genetics, Department Molecular Biology, University of Siena, Policlinico Le Scotte, viale Bracci 2, 53100, Siena, Italy.

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http://dx.doi.org/10.1007/s00415-009-5372-3DOI Listing
April 2010

Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient.

Neurol Sci 2009 Aug 15;30(4):329-32. Epub 2009 May 15.

Department of Neurological, Behavioural and Neurosurgical Sciences, Section of Neurological Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

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http://link.springer.com/10.1007/s10072-009-0092-0
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http://dx.doi.org/10.1007/s10072-009-0092-0DOI Listing
August 2009