Antonio Federico

Antonio Federico

UNVERIFIED PROFILE

Are you Antonio Federico?   Register this Author

Register author
Antonio Federico

Antonio Federico

Publications by authors named "Antonio Federico"

Are you Antonio Federico?   Register this Author

99Publications

2229Reads

12Profile Views

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.

Neurol Genet 2019 Oct 16;5(5):e352. Epub 2019 Aug 16.

IRCCS Fondazione Stella Maris (A.R., G.A., J.B., G.B., S.L., F.M.S., D.C.), Pisa, Italy; Department of Medicine (A.M., C.B., M.T.D., A.F., F.G., S.S., N.V.), Surgery and Neurosciences, University of Siena; Department of Clinical and Experimental Medicine (C.D., G.S., D.T.), University of Pisa; Metabolic Disease Unit (M.A.D., M.S.), AOU Meyer Children Hospital, Florence; Department of Molecular and Developmental Medicine (S.G.), University of Siena, Siena; Pediatric Neurology (R.G., F.M.), AOU Meyer Children Hospital, Florence; Neurophysiopathology Multiple Sclerosis Center Hospital Binaghi (M.A.M.), Cagliari; Pediatric Neurology and Nemo Clinical Centre (E.M.), Fondazione Policlinico Universitario "A. Gemelli IRCSS", Università Cattolica del Sacro Cuore, Rome; and Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, University of Verona, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6705647PMC
October 2019

The history of the first 40 years of Neurological Sciences.

Neurol Sci 2019 Oct 12. Epub 2019 Oct 12.

Istituto Neurologico C. Besta, Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04096-8DOI Listing
October 2019

A case of pneumocephalus as complication of ozone therapy: diagnosis and treatment.

Neurol Sci 2019 Sep 2. Epub 2019 Sep 2.

O.U. of Neurology and Neurometabolic Diseases, Department of Medical, Surgical and Neurological Sciences, University of Siena, "Policlinico Le Scotte", Viale Bracci no. 2, 53100, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04062-4DOI Listing
September 2019

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Neurology 2019 Aug 23;93(7):e647-e652. Epub 2019 Jul 23.

From the Department of Neurology, Reference Center for Lysosomal Diseases, UF Neuro-Genetics and Metabolism (L.C., R.D., Y.N.), and Department of Neuroradiology (B.L.-Y., N.P., D.L.), Pitié-Salpêtrière Hospital, Paris; Service de Biochimie et Biologie Moléculaire Grand Est (R.F., M.P.), Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron; UMR 5305 CNRS/UCBL (R.F.), Lyon, France; Department of Medicine, Surgery and Neurosciences (A.F., S.S.), Unit of Neurology and Neurometabolic Diseases, Medical School, University of Siena; Neuroradiology Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Siena, Italy; Department of Neurology (M.C.M., J.D.), Coimbra Hospital and University Centre, Portugal; Department of Neurology (S.H.K.), College of Medicine, Hanyang University, Seoul, Korea; Division of Neurology (H.A.), Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Japan; Department of Neurology (B.A.), La Timone Hospital; Aix-Marseille University (B.A.), CNRS, CRMBM UMR, Marseille; Department of Neurology (X.A.), Montpellier University Hospital, France; Department of Neurology (Y.D.), Xuan Wu Hospital, Capital Medical University, Beijing, China; Department of Neurology (R.H.), Royal Brisbane Hospital, Brisbane, Australia; Laboratory of Neurogenetics of Motion and Department of Neuroradiology (R.L.P.), Montréal Neurological Institute and Hospital, McGill University, Montréal; Department of Radiology (C.L.), Department of Pathology and Laboratory Medicine (C.L.), International Collaboration on Repair Discoveries (ICORD) (C.L.), Department of Physics and Astronomy (C.L.), and Division of Endocrinology, Department of Medicine (S.M.S.), University of British Columbia, Vancouver, Canada; Department of Neurology (K.N.), Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan; Department of Radiology (R.R.), Uppsala University, Sweden; Department of Neurology and Hertie-Institute for Clinical Brain Research (L.S.), Eberhard-Karls-University; German Center of Neurodegenerative Diseases (DZNE) (L.S.), Tübingen, Germany; Department of Neurology (F.V.), Caen-Normandie University Hospital, Caen; Inserm U1077 (F.V.), EPHE, Caen-Normandie University, Caen, France; and Department of Neurology and Stroke (K.J.), Medical University of Lodz, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007943DOI Listing
August 2019

Exploring the role of music therapy in multiple sclerosis: brief updates from research to clinical practice.

Neurol Sci 2019 Jul 12. Epub 2019 Jul 12.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-04007-xDOI Listing
July 2019

Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report.

Neurol Sci 2019 Jun 11;40(6):1303-1306. Epub 2019 Jan 11.

Department of Medicine, Surgery and Neurosciences, University of Siena. Unit of Neurology and Neurometabolic Disorders, Azienda Ospedaliera Universitaria Senese, viale Bracci 11, 53100, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-3701-6DOI Listing
June 2019

Rare Diseases Day and Brain Awareness Week: the active participation of Neurological Sciences.

Authors:
Antonio Federico

Neurol Sci 2019 Mar;40(3):441-445

Azienda Ospedaliera Universitaria Senese, Viale Bracci 2, 53100, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-019-03776-9DOI Listing
March 2019

Changes in grey matter volume and functional connectivity in cluster headache versus migraine.

Brain Imaging Behav 2019 Feb 14. Epub 2019 Feb 14.

Headache Centre, Careggi University Hospital, Department of Health Sciences, University of Florence, Florence, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11682-019-00046-2DOI Listing
February 2019

Message from the Editor-in-Chief Neurological Sciences is 40-year-old (founded in 1979)!

Authors:
Antonio Federico

Neurol Sci 2019 Jan;40(1):5-11

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-018-3690-xDOI Listing
January 2019

A case of reversible cerebral vasoconstriction syndrome and cavernous hemangioma: just a coincidence?

Neurol Sci 2018 Nov 30;39(11):1989-1990. Epub 2018 Jul 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-018-3503-2DOI Listing
November 2018

Perilesional edema in brain cancer: Independent prognosticator or epiphenomenon of biomolecular signature?

Radiother Oncol 2018 10 10;129(1):183-184. Epub 2018 Jan 10.

Unit of Radiation Oncology, University Hospital of Siena, Siena, Italy; Istituto Toscano Tumori, Florence, Italy; Sbarro Health Research Organization, Temple University, Philadelphia, PA, United States.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01678140173277
Publisher Site
http://dx.doi.org/10.1016/j.radonc.2017.12.020DOI Listing
October 2018

PR/SET Domain Family and Cancer: Novel Insights from the Cancer Genome Atlas.

Int J Mol Sci 2018 Oct 19;19(10). Epub 2018 Oct 19.

Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.

View Article

Download full-text PDF

Source
http://www.mdpi.com/1422-0067/19/10/3250
Publisher Site
http://dx.doi.org/10.3390/ijms19103250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6214140PMC
October 2018

Wide-Ranging Analysis of MicroRNA Profiles in Sporadic Amyotrophic Lateral Sclerosis Using Next-Generation Sequencing.

Front Genet 2018 14;9:310. Epub 2018 Aug 14.

Institute of Genetics and Biophysics "Adriano Buzzati Traverso", National Research Council, Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2018.00310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102490PMC
August 2018

Neurological sciences impact factor 2017 is increased to 2.285: a comment from the Editor in Chief.

Authors:
Antonio Federico

Neurol Sci 2018 Jul;39(7):1145-1146

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-018-3485-0DOI Listing
July 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization.

J Cell Physiol 2018 Mar 18;233(3):2324-2331. Epub 2017 Sep 18.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.26104DOI Listing
March 2018

Sixth nerve and superior division of third nerve palsy due to intracranial extension of multiple myeloma. A diagnostic challenge and differential diagnosis.

Neurol Sci 2018 03 28;39(3):593-594. Epub 2017 Oct 28.

Department of Medicine, Surgery and Neurosciences, University of Siena, Viale M. Bracci 16, 53100, Siena, Italy.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10072-017-3167-3
Publisher Site
http://dx.doi.org/10.1007/s10072-017-3167-3DOI Listing
March 2018

Replay to: Phenotypic spectrum of POLG1 mutations.

Neurol Sci 2018 03 2;39(3):575. Epub 2018 Feb 2.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-017-3229-6DOI Listing
March 2018

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.

View Article

Download full-text PDF

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

Primary cilium alterations and expression changes of Patched1 proteins in niemann-pick type C disease.

J Cell Physiol 2018 Jan 19;233(1):663-672. Epub 2017 May 19.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/jcp.25926
Publisher Site
http://dx.doi.org/10.1002/jcp.25926DOI Listing
January 2018

News on the journal Neurological Sciences in 2017.

Neurol Sci 2018 Jan;39(1):15-21

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-017-3241-xDOI Listing
January 2018

Eye movements in genetic parkinsonisms affecting the α-synuclein, PARK9, and manganese network.

Clin Neurophysiol 2017 12 7;128(12):2450-2453. Epub 2017 Oct 7.

Eye Tracking and Visual Application Lab (EVALab), Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinph.2017.09.107DOI Listing
December 2017

Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.

Front Neurol 2017 9;8:596. Epub 2017 Nov 9.

Eye Tracking and Visual Application Lab (EVA Lab), Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2017.00596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5684103PMC
November 2017

Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.

Neurol Sci 2017 09 25;38(9):1721-1722. Epub 2017 May 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-017-2986-6DOI Listing
September 2017

Clinical and MRI improvement in a case of progressive multifocal leukoencephalopathy.

Neurol Sci 2017 08 18;38(8):1517-1519. Epub 2017 Apr 18.

Department of Internal and Specialty Medicine, University Division of Infectious Diseases, University of Siena, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-017-2914-9DOI Listing
August 2017

Demyelinating polyneuropathy in a case of anti-LGI1 encephalitis.

Muscle Nerve 2017 07 8;56(1):E2-E3. Epub 2017 Apr 8.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.25572DOI 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.

View Article

Download full-text PDF

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

Transcriptome Profiling in Human Diseases: New Advances and Perspectives.

Int J Mol Sci 2017 Jul 29;18(8). Epub 2017 Jul 29.

Institute of Genetics and Biophysics "Adriano Buzzati Traverso", CNR, 80131 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18081652DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578042PMC
July 2017

The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.

J Physiol 2017 06 14;595(11):3607-3620. Epub 2017 Mar 14.

Eye tracking and Visual Application Lab (EVA Lab) - Neurology and Neurometabolic Unit, Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1113/JP273670DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451708PMC
June 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.

View Article

Download full-text PDF

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

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

J Neurol Sci 2017 Apr 27;375:198-202. Epub 2017 Jan 27.

Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Italy, Azienda Ospedaliera Universitaria Senese, Siena. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2017.01.069DOI Listing
April 2017

Pan-Cancer Mutational and Transcriptional Analysis of the Integrator Complex.

Int J Mol Sci 2017 Apr 29;18(5). Epub 2017 Apr 29.

Department of Biochemistry, Biophysics and General Pathology, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18050936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454849PMC
April 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Progression of oculomotor deficit in a patient with posterior cortical atrophy.

J Neurol Sci 2017 Jan 31;372:459-463. Epub 2016 Oct 31.

Eye Tracking and Visual Application Lab (EVALab), Department of Medical, Surgical and Neurological Sciences, University of Siena, Policlinico Santa Maria alle Scotte, viale Bracci 2, 53100 Siena, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2016.10.049DOI Listing
January 2017

Advances in clinical neurology through the journal "Neurological Sciences" (2015-2016).

Neurol Sci 2017 Jan;38(1):9-18

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-017-2815-yDOI Listing
January 2017

Is the time ripe for new diagnostic criteria of cognitive impairment due to cerebrovascular disease? Consensus report of the International Congress on Vascular Dementia working group.

BMC Med 2016 Nov 3;14(1):162. Epub 2016 Nov 3.

Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology and Medicine, Charing Cross Hospital, St Dunstan's Road, W6 8RP, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12916-016-0719-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093932PMC
November 2016

Paroxysmal supraventricular tachycardia in anti-musk Myasthenia gravis: A case report.

J Neurol Sci 2016 Oct 4;369:250-251. Epub 2016 Aug 4.

Unit of Clinical Neurology and Neurometabolic Diseases, Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, Policlinico Santa Maria alle Scotte, 53100 Siena, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2016.08.010DOI Listing
October 2016

Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene.

J Alzheimers Dis 2016 ;49(1):27-30

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-150424DOI Listing
September 2016

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.

Neurol Sci 2016 Sep 23;37(9):1565-9. Epub 2016 Jun 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-016-2634-6DOI Listing
September 2016

Early/late-life adversities and behavioural phenotypes: insight into metabolomics, genomics and connectomics.

J Intellect Disabil Res 2016 09;60(9):833-4

Division of Child & Adolescent Psychiatry, University of Cape Town, Cape Town, South Africa.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jir.12326DOI Listing
September 2016

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:

View Article

Download full-text PDF

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

Our Impact Factor 2015 is increased to 1.783: a comment from the Editor-in-Chief.

Authors:
Antonio Federico

Neurol Sci 2016 Aug;37(8):1189

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-016-2653-3DOI Listing
August 2016

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.

View Article

Download full-text PDF

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

Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes.

Int J Mol Sci 2016 Jun 25;17(7). Epub 2016 Jun 25.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, Via Pietro Castellino 111, 80131 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms17071008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964384PMC
June 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:

View Article

Download full-text PDF

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

[Oral plasmablastic lymphoma in a human immunodeficiency virus positive child: a case report].

Arch Argent Pediatr 2016 Apr 1;114(2):e95-9. Epub 2016 Apr 1.

Departamento de Medicina, Hospital de Niños "Dr. Ricardo Gutiérrez", Ciudad Autónoma de Buenos Aires, C1425EFD, Argentina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5546/aap.2016.e95DOI Listing
April 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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.

J Neurol Sci 2015 Dec 9;359(1-2):409-17. Epub 2015 Oct 9.

Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2015.09.377DOI Listing
December 2015

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.

View Article

Download full-text PDF

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

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Neurol Sci 2015 Sep 7;36(9):1713-5. Epub 2015 Jun 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-015-2247-5DOI Listing
September 2015

Hereditary spastic paraplegia type 11 with a very late onset.

J Neurol 2015 Aug 17;262(8):1987-9. Epub 2015 Jul 17.

Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-015-7854-9DOI Listing
August 2015

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.

View Article

Download full-text PDF

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

Apoptosis and oxidative stress in neurodegenerative diseases.

J Alzheimers Dis 2014 ;42 Suppl 3:S125-52

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JAD-132738DOI Listing
June 2015

Evaluating the influence of motor control on selective attention through a stochastic model: the paradigm of motor control dysfunction in cerebellar patient.

Biomed Res Int 2014 9;2014:162423. Epub 2014 Feb 9.

Eye Tracking & Visual Application Lab, University of Siena, Viale Bracci 2, 53100 Siena, Italy ; Department of Neurological Sciences and Behavior, University of Siena, Viale Bracci 2, 53100 Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2014/162423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932822PMC
May 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,

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

J Neurol Sci 2015 Mar 29;350(1-2):107-9. Epub 2015 Jan 29.

Eye-tracking and Visual Application Lab (EVALab), University of Siena, Italy; Neurometabolic Unit Department of Medicine, Surgery and Neurosciences, University of Siena, Italy. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2015.01.031DOI Listing
March 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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022510X140080
Publisher Site
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.

View Article

Download full-text PDF

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

Novel transcription factor variants through RNA-sequencing: the importance of being "alternative".

Int J Mol Sci 2015 Jan 13;16(1):1755-71. Epub 2015 Jan 13.

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", National Research Council, 80131 Naples, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms16011755DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307332PMC
January 2015

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.

View Article

Download full-text PDF

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

Adult-onset phenylketonuria revealed by acute reversible dementia, prosopagnosia and parkinsonism.

J Neurol 2014 Dec 31;261(12):2446-8. Epub 2014 Oct 31.

Department of Medical, Surgical and Neurological Sciences, Medical School, University of Siena, Policlinico Santa Maria Alle Scotte, Viale Bracci 2, 53100, Siena, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-014-7492-7DOI Listing
December 2014

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Spatial ranking strategy and enhanced peripheral vision discrimination optimize performance and efficiency of visual sequential search.

Eur J Neurosci 2014 Sep 4;40(5):2833-41. Epub 2014 Jun 4.

Eye Tracking and Visual Application EVALab, Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, Siena, 53100, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ejn.12639DOI Listing
September 2014

Twelve-year monitoring of a patient with megalencephalic leukoencephalopathy with subcortical cysts.

Neurol Sci 2014 Aug 2;35(8):1249-53. Epub 2014 Mar 2.

Department of Medicine, Surgery and Neuroscience, University of Siena, Policlinico "S. Maria alle Scotte", Viale Bracci, 2, 53100, Siena, Italy,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-014-1691-yDOI Listing
August 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,

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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