Publications by authors named "Davide Pareyson"

100Publications

Hypomyelinating leukodystrophies in adults: clinical and genetic features.

Eur J Neurol 2020 Nov 15. Epub 2020 Nov 15.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

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http://dx.doi.org/10.1111/ene.14646DOI Listing
November 2020

Hereditary transthyretin amyloidosis overview.

Neurol Sci 2020 Nov 14. Epub 2020 Nov 14.

Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-020-04889-2DOI Listing
November 2020

Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease.

Clin Neurophysiol 2020 Oct 6;131(10):2440-2451. Epub 2020 Aug 6.

Department of Neuroscience, University of Copenhagen, Denmark; Department of Clinical Neurophysiology, Rigshospitalet, Copenhagen, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2020.06.034DOI Listing
October 2020

Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study.

Neurol Sci 2020 Jul 6. Epub 2020 Jul 6.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-020-04576-2DOI Listing
July 2020

Validation of the Italian version of the Charcot-Marie-Tooth Health Index.

J Peripher Nerv Syst 2020 Sep 24;25(3):292-296. Epub 2020 Jun 24.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1111/jns.12397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484132PMC
September 2020

Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.

J Peripher Nerv Syst 2020 06 26;25(2):138-142. Epub 2020 May 26.

University of Sydney School of Health Sciences & Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jns.12383DOI Listing
June 2020

Asymptomatic adrenoleukodystrophy in elderly males.

J Neurol 2020 Jun 20;267(6):1849-1851. Epub 2020 Apr 20.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-020-09834-zDOI Listing
June 2020

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

J Clin Neurosci 2020 May 26;75:221-223. Epub 2020 Mar 26.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133 Milano, Italy; Neuroscience PhD Program, University of Milano-Bicocca, Monza, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2020.03.033DOI Listing
May 2020

-related disease is associated with central pontine calcifications and atypical parkinsonism.

Neurol Genet 2020 Apr 20;6(2):e399. Epub 2020 Feb 20.

Department of Neuromuscular Diseases (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), UCL Queen Square Institute of Neurology; National Hospital for Neurology and Neurosurgery (V.C., S.E., L.S., J.V., V.S., N.W.W., H.H.), Queen Square, London, UK; Department of Neurology and Neurosurgery (V.C., S.G.), Institute of Emergency Medicine, Chisinau, Republic of Moldova; Department of Neuroscience (M.C.), University of Padua, Italy; Northern Ireland Regional Genetics Service (G.R., P.J.M.), Belfast City Hospital, UK; Department of Neuroscience (A.B.), Interdisciplinary Center (IDC) Herzliya, Israel; Department of Paediatrics & Child Health (S.K., F.J., S.I., F.K., Z.Q.), Aga Khan University, Karachi, Pakistan; Department of Neurology (L.M.), Eastern Piedmont University, Novara, Italy; Department of Neurology (E.S., D.P.) and Department of Neuroradiology (L.C.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Clinical Neurology (N.B.), University of Nottingham, UK; Department of Clinical and Movement Neurosciences (B.B., K.P.B., N.W.W.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (B.B.), Heidelberg University Hospital, Germany; Reta Lila Weston Institute (A.L.), UCL Queen Square Institute of Neurology, London, UK; and Medical Genetics and Neurogenetics Unit (B.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073457PMC
April 2020

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.

Neurology 2020 03 11;94(9):e884-e896. Epub 2020 Feb 11.

From the Department of Neurology (V.F., S.S., S.A.K.), University of Colorado Denver, Aurora; Department of Neurology (G.A.), Connecticut Children's Medical Center, Hartford; Department of Neurology (C.B., S.F., T.G., L.G., R.R.S., J.W., M.E.S.), University of Iowa Hospitals and Clinics, Iowa City; Health Informatics Institute (K.D., C.A.K.), University of South Florida, Tampa; University of Sydney and The Children's Hospital at Westmead (J.B.), New South Wales, Australia; Department of Neurology (J.D., C.E.S.), Stanford University, CA; Department of Neurology (S.F., J.L., S.R., R.R.S. , M.E.S.), Wayne State University, Detroit, MI; Department of Neurology (R.S.F.), Nemours Children's Hospital, Orlando, FL; Department of Neurology (D.N.H.), University of Rochester, NY; MRC Centre for Neuromuscular Diseases (M.L., M.M.R.), UCL Queen Square Institute of Neurology, London, UK; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Departments of Neurology and Neuroscience (T.E.L., C.J.S.), John Hopkins University School of Medicine, Baltimore, MD; Department of Child Neurology (I.M., E.P.) and Department of Clinical Neurosciences (C.P., G.P.,* D.P.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Istituti Clinici Scientifici Maugeri (G.P.*), Neurorehabilitation Unit, Scientific Institute of Telese Terme (BN), Italy; Department of Neurology (F.M.), UCL Institute of Child Health and Great Ormond Street Hospital, London, UK; Department of Neurology (S.R.), University of Michigan, Ann Arbor; PRA Health Sciences (S.R.), Raleigh, NC; Department of Neurology (M.S.) and Department of Human Genetics and Hussman Institute for Human Genomics (S.Z.), University of Miami Miller School of Medicine, FL; Department of Neurology (R.S.), Massachusetts General Hospital, Boston; Department of Neurology (D.W.), University of Minnesota, Minneapolis; Department of Neurology (S.W.Y., S.S.S.), Hospital of the University of Pennsylvania, Philadelphia; and Department of Neurology (S.W.Y.), Children's Hospital of Philadelphia, PA.

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http://dx.doi.org/10.1212/WNL.0000000000009035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238948PMC
March 2020

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

Neurology 2019 08 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

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

Balance impairment in pediatric charcot-marie-tooth disease.

Muscle Nerve 2019 09 15;60(3):242-249. Epub 2019 May 15.

Children's Hospital of Philadelphia, Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/mus.26500DOI Listing
September 2019

Hereditary neuropathy with liability to pressure palsies.

J Neurol 2020 Aug 15;267(8):2198-2206. Epub 2019 Apr 15.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1007/s00415-019-09319-8DOI Listing
August 2020

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

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects.

Eur J Phys Rehabil Med 2019 Feb 11;55(1):47-55. Epub 2018 Jun 11.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.23736/S1973-9087.18.05111-0DOI Listing
February 2019

Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease.

Neurology 2018 02 10;90(6):257-259. Epub 2018 Jan 10.

From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (D.P.), Department of Clinical Neurosciences, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy; and Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000004936DOI Listing
February 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

221st ENMC International Workshop:: Foot Surgery in Charcot-Marie-Tooth disease. 10-12 June 2016, Naarden, The Netherlands.

Neuromuscul Disord 2017 12 21;27(12):1138-1142. Epub 2017 Sep 21.

Royal National Orthopaedic Hospital, Stanmore, UK.

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http://dx.doi.org/10.1016/j.nmd.2017.09.005DOI Listing
December 2017

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Mitochondrion 2018 09 18;42:1-10. Epub 2017 Oct 18.

Department of Neurology, Friedrich-Baur Institute, Ludwig-Maximilians-Universität München, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.10.003DOI Listing
September 2018

Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects.

Neuromuscul Disord 2017 Nov 14;27(11):1029-1037. Epub 2017 Jul 14.

Biomedical Technology Department, IRCCS Don Carlo Gnocchi Foundation Onlus, Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2017.07.003DOI Listing
November 2017

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

J Neurol Neurosurg Psychiatry 2017 10 9;88(10):846-863. Epub 2017 Aug 9.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313960DOI Listing
October 2017

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Neurology 2017 Aug 2;89(9):927-935. Epub 2017 Aug 2.

From the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.

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http://dx.doi.org/10.1212/WNL.0000000000004296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577965PMC
August 2017

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

New developments in Charcot-Marie-Tooth neuropathy and related diseases.

Curr Opin Neurol 2017 10;30(5):471-480

Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy.

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http://dx.doi.org/10.1097/WCO.0000000000000474DOI Listing
October 2017

Mutations in noncoding regions of are a major cause of X-linked CMT.

Neurology 2017 Apr 10;88(15):1445-1453. Epub 2017 Mar 10.

From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norfolk, UK.

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http://dx.doi.org/10.1212/WNL.0000000000003819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386440PMC
April 2017

Repeatability, consistency, and accuracy of hand-held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults.

Muscle Nerve 2017 Nov 30;56(5):896-900. Epub 2017 May 30.

Arthritis and Musculoskeletal Research Group, Faculty of Health Sciences, The University of Sydney, Australia.

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http://dx.doi.org/10.1002/mus.25576DOI Listing
November 2017

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

J Peripher Nerv Syst 2017 03;22(1):47-50

Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.

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http://doi.wiley.com/10.1111/jns.12201
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http://dx.doi.org/10.1111/jns.12201DOI Listing
March 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

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

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

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).

J Peripher Nerv Syst 2016 09;21(3):142-9

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/jns.12175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592964PMC
September 2016

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.

Cochrane Database Syst Rev 2015 Dec 11(12):CD011952. Epub 2015 Dec 11.

Department of Neurology, University Hospital RWTH Aachen, Pauwelsstraße 30, Aachen, Germany, 52074.

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http://dx.doi.org/10.1002/14651858.CD011952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823270PMC
December 2015

Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.

J Mol Neurosci 2016 Mar 14;58(3):379-87. Epub 2015 Nov 14.

Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, "C. Besta" Neurological Institute, Via Celoria 11, Milan, 20133, Italy.

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http://dx.doi.org/10.1007/s12031-015-0682-7DOI Listing
March 2016

Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.

Hum Mutat 2016 Jan 5;37(1):98-109. Epub 2015 Nov 5.

Department of Neurosciences, Rehabilitation Ophthalmology, Genetics and Maternal-Infantile Sciences (DINOGMI) and CEBR, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1002/humu.22921DOI Listing
January 2016

Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.

J Peripher Nerv Syst 2015 Dec;20(4):380-6

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

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http://dx.doi.org/10.1111/jns.12145DOI Listing
December 2015

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

Mitochondrial dynamics and inherited peripheral nerve diseases.

Neurosci Lett 2015 Jun 3;596:66-77. Epub 2015 Apr 3.

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/10.1016/j.neulet.2015.04.001DOI Listing
June 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 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

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

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

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

PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.

Brain 2014 Jun 8;137(Pt 6):1614-20. Epub 2014 May 8.

7 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/10.1093/brain/awu071DOI Listing
June 2014

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology 2014 Jun 7;82(22):2003-6. Epub 2014 May 7.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., F.P., S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000048
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http://dx.doi.org/10.1212/WNL.0000000000000482DOI Listing
June 2014

Pain and small fiber function in Charcot-Marie-Tooth disease type 1A.

Muscle Nerve 2014 Sep 15;50(3):366-71. Epub 2014 May 15.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://doi.wiley.com/10.1002/mus.24169
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http://dx.doi.org/10.1002/mus.24169DOI Listing
September 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

Inherited neuropathies: an update.

J Neurol 2013 Oct 24;260(10):2684-90. Epub 2013 Sep 24.

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

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http://dx.doi.org/10.1007/s00415-013-7113-xDOI Listing
October 2013

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

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

Influence of comorbidities on the phenotype of patients affected by Charcot-Marie-Tooth neuropathy type 1A.

Neuromuscul Disord 2013 Nov 23;23(11):902-6. Epub 2013 Jul 23.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, Italy.

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http://dx.doi.org/10.1016/j.nmd.2013.07.002DOI Listing
November 2013

Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study.

J Neuroeng Rehabil 2013 Jul 2;10:65. Epub 2013 Jul 2.

Biomedical Technology Department, Don Carlo Gnocchi Foundation Onlus IRCCS, Milan, Italy.

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http://dx.doi.org/10.1186/1743-0003-10-65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3707823PMC
July 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