Ettore Salsano

Ettore Salsano

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Ettore Salsano

Ettore Salsano

Publications by authors named "Ettore Salsano"

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Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation.

J Alzheimers Dis 2018 ;63(1):195-201

Unit of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.3233/JAD-180018DOI Listing
August 2019

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy.

Neurology 2019 Aug 9;93(7):310-312. Epub 2019 Jul 9.

From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007951DOI Listing
August 2019

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

Am J Med Genet A 2019 Aug 22. 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
August 2019

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Metab Brain Dis 2019 Jul 22. Epub 2019 Jul 22.

Pediatric Neurology Unit, V. Buzzi Children's Hospital, Via Castelvetro 32, 20154, Milan, Italy.

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http://dx.doi.org/10.1007/s11011-019-00464-7DOI Listing
July 2019

Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.

J Clin Neurosci 2019 Jun 22;64:42-44. Epub 2019 Mar 22.

Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1016/j.jocn.2019.03.021DOI Listing
June 2019

Neuropsychological features of adult form of Alexander disease.

J Neurol Sci 2019 Jun 23;401:87-89. Epub 2019 Apr 23.

Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2019.04.030DOI Listing
June 2019

Spinal cord involvement in adult-onset metabolic and genetic diseases.

J Neurol Neurosurg Psychiatry 2019 Feb 27;90(2):211-218. Epub 2018 Aug 27.

Department of Neurology, Gui de Chauliac University Hospital, Montpellier, France.

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http://dx.doi.org/10.1136/jnnp-2018-318666DOI Listing
February 2019

Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?

JAMA Neurol 2018 Aug;75(8):1027

Gene Therapy Program, Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamaneurol.2018.1515DOI Listing
August 2018

Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim-Chester disease.

J Neurol 2018 Feb 4;265(2):273-284. Epub 2017 Dec 4.

Unit of Neurodegerative and Neurometabolic Rare Diseases, IRCCS Foundation "Carlo Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-017-8692-8DOI Listing
February 2018

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.

Am J Med Genet B Neuropsychiatr Genet 2017 Oct 2;174(7):732-739. Epub 2017 Aug 2.

Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32570DOI Listing
October 2017

Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy.

J Peripher Nerv Syst 2017 03;22(1):59-63

Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12200DOI Listing
March 2017

Neurofascin-155 as a putative antigen in combined central and peripheral demyelination.

Neurol Neuroimmunol Neuroinflamm 2016 Aug 7;3(4):e238. Epub 2016 Jun 7.

IRCCS (A.C., E.Z., C.O., S.R., N.V., E.A., A.M., E.M., D.F.), C. Mondino National Neurological Institute, Pavia, Italy; CNRS (J.J.D., C.M.), CRN2M-UMR 7286, Aix-Marseille Université; Gui de Chauliac Hospital (G.T., C.C.D.), Montpellier University Hospital Center; CHU Amiens-Picardie (P.M.), France; IRCCS Foundation (G.P., E.S., D.P.), C. Besta Neurological Institute, Milan; and University of Pavia (E.Z., A.M.), Italy.

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http://dx.doi.org/10.1212/NXI.0000000000000238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897982PMC
August 2016

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Neuromuscul Disord 2015 Oct 29;25(10):800-1. Epub 2015 Jul 29.

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.07.015DOI Listing
October 2015

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps.

Authors:
Ettore Salsano

Mol Genet Metab 2015 Apr 27;114(4):491-3. Epub 2015 Feb 27.

Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Celoria 11, Milano 20133, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.02.005DOI Listing
April 2015

A new mutation in GJC2 associated with subclinical leukodystrophy.

J Neurol 2014 Oct 25;261(10):1929-38. Epub 2014 Jul 25.

Departments of Neurology and Physiology and Pharmacology, SUNY Downstate, 450 Clarkson Avenue, Brooklyn, NY, 11203, USA,

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http://dx.doi.org/10.1007/s00415-014-7429-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301586PMC
October 2014

Brain fluorodeoxyglucose PET in adrenoleukodystrophy.

Neurology 2014 Sep 6;83(11):981-9. Epub 2014 Aug 6.

From the Departments of Clinical Neurosciences (E.S., D.P.), Diagnostics and Applied Technology (V.M., A.R.G., L.F., M.S.), and Child Neurology (G.U.), Fondazione IRCCS, Istituto Neurologico "C. Besta," Milano, Italy; and Department of Nuclear Medicine (G.M., R.B.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://www.neurology.org/content/83/11/981.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000077
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http://dx.doi.org/10.1212/WNL.0000000000000770DOI Listing
September 2014

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.

Neurology 2014 Sep 15;83(13):1217-8. Epub 2014 Aug 15.

From the Fondazione IRCCS Istituto Neurologico Carlo Besta (D.D.B., D.P., M.S., L.F., C.C., S.C., A.S., S.N., F.T., E.S.), Milan; University of Milan (S.B., N.B.); Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (S.B., N.B.), Milan; the Scientific Institute IRCCS E. Medea (N.B.), Bosisio Parini; and the Second University of Naples (G.T.), Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000812DOI Listing
September 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
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http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.

J Peripher Nerv Syst 2014 Jun;19(2):183-6

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns5.12070DOI Listing
June 2014

Dominant Charcot-Marie-Tooth syndrome and cognate disorders.

Handb Clin Neurol 2013 ;115:817-45

Clinics of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. Electronic address:

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http://linkinghub.elsevier.com/retrieve/pii/B978044452902200
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http://dx.doi.org/10.1016/B978-0-444-52902-2.00047-3DOI Listing
April 2014

Memory loss: do not forget the mammillary bodies.

Neurol Sci 2014 Mar 17;35(3):473-4. Epub 2013 Oct 17.

Department of Neuroradiology, Foundation IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy,

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http://dx.doi.org/10.1007/s10072-013-1560-0DOI Listing
March 2014

Peripheral neuropathy in mitochondrial disorders.

Lancet Neurol 2013 Oct;12(10):1011-24

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70158-3DOI Listing
October 2013

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

J Neurol 2013 Jun 29;260(6):1617-23. Epub 2013 Jan 29.

Unit of Neurology VIII, Fondazione IRCCS Istituto Neurologico C. Besta, via Celoria 11, 20133, Milan, Italy.

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http://link.springer.com/10.1007/s00415-013-6844-z
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http://dx.doi.org/10.1007/s00415-013-6844-zDOI Listing
June 2013

Coexistence of Charcot-Marie-Tooth disease type 1A and anti-MAG neuropathy.

J Peripher Nerv Syst 2013 Jun;18(2):185-8

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1111/jns5.12029DOI Listing
June 2013

Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Neurol Sci 2012 Dec 19;33(6):1225-32. Epub 2012 Jul 19.

Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milano, Italy.

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http://dx.doi.org/10.1007/s10072-012-1155-1DOI Listing
December 2012

Clinical neurogenetics: recent advances.

J Neurol 2012 Oct 21;259(10):2255-60. Epub 2012 Jul 21.

Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-012-6602-7DOI Listing
October 2012

FABP4 is a candidate marker of cerebellar liponeurocytomas.

J Neurooncol 2012 Jul 3;108(3):513-9. Epub 2012 Apr 3.

Unit of Molecular Neuro-oncology, Fondazione IRCCS C. Besta, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s11060-012-0853-0DOI Listing
July 2012

Expression profile of frizzled receptors in human medulloblastomas.

J Neurooncol 2012 Jan 18;106(2):271-80. Epub 2011 Aug 18.

UO Neuro-oncologia Molecolare-Neurologia VIII, Fondazione IRCCS, Istituto Neurologico "C. Besta", Via Celoria 11, 20133 Milan, Italy.

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http://link.springer.com/10.1007/s11060-011-0682-6
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http://dx.doi.org/10.1007/s11060-011-0682-6DOI Listing
January 2012

Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.

Neuromuscul Disord 2011 Feb 14;21(2):129-31. Epub 2010 Oct 14.

Unit of Clinic of Central and Peripheral Degenerative Neuropathies, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2010.09.009DOI Listing
February 2011

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

J Neurol Sci 2011 Jan 12;300(1-2):165-8. Epub 2010 Oct 12.

IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.09.022DOI Listing
January 2011

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

Hereditary predominantly motor neuropathies.

Curr Opin Neurol 2009 Oct;22(5):451-9

Unit of Neurology VIII, Clinics of Central and Peripheral Degenerative Neuropathies, Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy.

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https://insights.ovid.com/crossref?an=00019052-200910000-000
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http://dx.doi.org/10.1097/WCO.0b013e3283311dfdDOI Listing
October 2009

Tonic pupil following the use of dermatoscope.

Acta Neurol Taiwan 2009 Jun;18(2):148-50

Division of Biochemistry and Genetics, IRCCS Foundation, "Carlo Besta" Neurological Institute, Milan, Italy.

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June 2009

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Brain 2009 Feb 4;132(Pt 2):426-38. Epub 2008 Dec 4.

Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, Philadelphia, PA 19104-6077, USA.

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http://dx.doi.org/10.1093/brain/awn328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640216PMC
February 2009

Loss of heterozygosity studies in extracranial metastatic meningiomas.

J Neurooncol 2007 Oct 24;85(1):81-5. Epub 2007 Apr 24.

Department of Experimental Neurology and Diagnostics, Fondazione IRCCS Istituto Neurologico Besta, Milano, Italy.

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http://dx.doi.org/10.1007/s11060-007-9386-3DOI Listing
October 2007

Expression of the neurogenic basic helix-loop-helix transcription factor NEUROG1 identifies a subgroup of medulloblastomas not expressing ATOH1.

Neuro Oncol 2007 Jul 23;9(3):298-307. Epub 2007 May 23.

Unit of Experimental Neuro-Oncology, Carlo Besta Neurological Institute Foundation, via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1215/15228517-2007-014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1907423PMC
July 2007

Expression of MATH1, a marker of cerebellar granule cell progenitors, identifies different medulloblastoma sub-types.

Neurosci Lett 2004 Nov;370(2-3):180-5

Department of Experimental Neurosciences and Diagnostics, Unit of Experimental Neuro-Oncology and Gene Therapy, via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.neulet.2004.08.053DOI Listing
November 2004

Association of chromosome 10 losses and negative prognosis in oligoastrocytomas.

Ann Neurol 2002 Dec;52(6):842-5

Department of Experimental Neurology and Diagnostics, Istituto Nazionale Neurologico Besta, Via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1002/ana.10405DOI Listing
December 2002