Publications by authors named "Gian Maria Fabrizi"

65Publications

CIDP, CMT1B, or CMT1B plus CIDP?

Neurol Sci 2020 Oct 18. Epub 2020 Oct 18.

Section of Neurology, Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1007/s10072-020-04789-5DOI Listing
October 2020

High-dose immunoglobulin pulse therapy and risk of Covid19 infection.

J Neurol 2020 Aug 10. Epub 2020 Aug 10.

Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics and Maternal/Child Sciences, University of Genova, Largo Daneo 3, 16132, Genova, Italy.

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http://dx.doi.org/10.1007/s00415-020-10146-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416798PMC
August 2020

Pharmacological treatment for familial amyloid polyneuropathy.

Cochrane Database Syst Rev 2020 Apr 20;4:CD012395. Epub 2020 Apr 20.

University of Verona, Department of Neurosciences, Biomedicine and Movement Sciences, Piazzale L.A. Scuro n. 10, Verona, VR, Italy, 37134.

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http://dx.doi.org/10.1002/14651858.CD012395.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170468PMC
April 2020

Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.

Neuromuscul Disord 2020 03 17;30(3):227-231. Epub 2020 Jan 17.

Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway.

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http://dx.doi.org/10.1016/j.nmd.2019.12.007DOI Listing
March 2020

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Neurol Sci 2020 May 4;41(5):1239-1243. Epub 2020 Jan 4.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, via Consolare Valeria 1, 98125, Messina, ME, Italy.

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http://dx.doi.org/10.1007/s10072-019-04219-1DOI Listing
May 2020

Deoxysphingolipids as candidate biomarkers for a novel mutation associated with HSAN-I.

Neurol Genet 2019 Dec 8;5(6):e365. Epub 2019 Oct 8.

Department of Neuroscience (F.B., F.T., M.F., T.C., G.M.F.), Biomedicine and Movement Sciences, University of Verona; Department of Neurosciences (F.B., F.T., M.F., T.C., G.M.F.), AOUI Verona; Analytical Chemistry Lab (A.A.), Fondazione Istituto Italiano di Tecnologia; and Department of Neurosciences (L.N.), Rehabilitation, Ophthalmology, Genetics and Maternal-Infantile Sciences, University of Genoa & IRCCS Ospedale Policlinico San Martino, Genova, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000365DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807659PMC
December 2019

Nerve size correlates with clinical severity in Charcot-Marie-Tooth disease 1A.

Muscle Nerve 2019 12 10;60(6):744-748. Epub 2019 Sep 10.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1002/mus.26688DOI Listing
December 2019

Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs.

Clin Neurophysiol 2018 11 1;129(11):2259-2267. Epub 2018 Sep 1.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy; Neurology Division, Department of Neuroscience AOUI Verona, Verona, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.08.016DOI Listing
November 2018

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

Reply to "Relationship between age and nerve dimensions in Charcot-Marie-Tooth disease. Do we know the reality?"

Clin Neurophysiol 2018 06 22;129(6):1335-1336. Epub 2018 Mar 22.

Neurology Division, Pederzoli Hospital, Peschiera del Garda, Verona, Italy.

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http://dx.doi.org/10.1016/j.clinph.2018.03.003DOI Listing
June 2018

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.23161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324646PMC
March 2017

Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.

Seizure 2016 Nov 5;42:1-6. Epub 2016 Sep 5.

University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.

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http://dx.doi.org/10.1016/j.seizure.2016.08.008DOI Listing
November 2016

Nerve ultrasound in CMT2E/CMT1F due to NEFL mutation: Confirmation of an axonal pathology.

Clin Neurophysiol 2016 09 30;127(9):2990-2991. Epub 2016 Jun 30.

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1016/j.clinph.2016.06.024DOI Listing
September 2016

Erratum to "Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience" [Clin. Neurol. Neurosurg. 144 (2016) 67-71].

Clin Neurol Neurosurg 2016 Jun 2. Epub 2016 Jun 2.

Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; Centro Clinico NEMO, Rome, Italy.

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http://dx.doi.org/10.1016/j.clineuro.2016.05.011DOI Listing
June 2016

Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.

Clin Neurol Neurosurg 2016 May 9;144:67-71. Epub 2016 Mar 9.

Department of Geriatrics, Neurosciences, Head & Neck Surgery and Orthopedics, Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy; Centro Clinico NEMO, Rome, Italy.

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http://dx.doi.org/10.1016/j.clineuro.2016.03.007DOI Listing
May 2016

Spinal arachnoid cyst as a cause of isolated, progressive, bilateral C5-C6 radiculopathy.

Spine J 2016 06 8;16(6):e367-8. Epub 2015 Dec 8.

Department of Neurological and Movement Sciences, Section of Clinical Neurology, University of Verona, P.le L.A. Scuro 10, 37134 Verona, Italy.

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http://dx.doi.org/10.1016/j.spinee.2015.11.061DOI Listing
June 2016

Nerve ultrasound in patients with CMT1C: description of 3 cases.

Muscle Nerve 2015 May;51(5):781-2

Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1002/mus.24474DOI Listing
May 2015

Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.

J Alzheimers Dis 2015 ;44(1):49-56

Section of Neuropathology, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy.

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http://dx.doi.org/10.3233/JAD-141794DOI Listing
September 2015

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Acta Neuropathol 2014 Sep 5;128(3):397-410. Epub 2014 Jun 5.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-014-1298-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131163PMC
September 2014

A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.

Neurol Sci 2014 Dec 21;35(12):2005-7. Epub 2014 May 21.

Institute of Neurology, Catholic University of Sacred Heart, Largo F. Vito 1, 00168, Rome, Italy,

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http://dx.doi.org/10.1007/s10072-014-1833-2DOI Listing
December 2014

A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.

J Alzheimers Dis 2014 ;41(3):709-14

Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.3233/JAD-140081DOI Listing
September 2015

Considerable post-partum worsening in a patient with CMT2E.

Neurol Sci 2013 Oct 15;34(10):1813-4. Epub 2013 Feb 15.

Department of Neurosciences, Psychiatry and Anesthesiology, AOU "G. Martino", Messina, Italy,

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http://dx.doi.org/10.1007/s10072-013-1296-xDOI Listing
October 2013

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.

J Peripher Nerv Syst 2012 Dec;17(4):414-7

Department of Neurological, Neuropsychological, Morphological and Movement Sciences, Section of Neuropathology, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00441.xDOI Listing
December 2012

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

J Peripher Nerv Syst 2012 Dec;17(4):407-11

Department of Neurosciences, Psychiatry and Anesthesiology, AOU "G. Martino", Messina, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00439.xDOI Listing
December 2012

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

Authors:
Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Sebastiaan Engelborghs Stéphanie Philtjens Mathieu Vandenbulcke Kristel Sleegers Anne Sieben Veerle Bäumer Githa Maes Ellen Corsmit Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira José Pimentel Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Caroline Graff Huei-Hsin Chiang Marie Westerlund Raquel Sanchez-Valle Albert Llado Ellen Gelpi Isabel Santana Maria Rosário Almeida Beatriz Santiago Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Radoslav Matej Eva Parobkova Gabor G Kovacs Thomas Ströbel Stayko Sarafov Ivailo Tournev Albena Jordanova Adrian Danek Thomas Arzberger Gian Maria Fabrizi Silvia Testi Eric Salmon Patrick Santens Jean-Jacques Martin Patrick Cras Rik Vandenberghe Peter Paul De Deyn Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Stéphanie Philtjens Kristel Sleegers Veerle Bäumer Githa Maes Ellen Corsmit Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Stéphanie Philtjens Jessie Theuns Kristel Sleegers Veerle Bäumer Githa Maes Marc Cruts Christine Van Broeckhoven Sebastiaan Engelborghs Peter P De Deyn Patrick Cras Sebastiaan Engelborghs Peter P De Deyn Mathieu Vandenbulcke Mathieu Vandenbulcke Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira Clara Firmo José Pimentel Raquel Sanchez-Valle Albert Llado Anna Antonell Jose Molinuevo Ellen Gelpi Caroline Graff Huei-Hsin Chiang Marie Westerlund Caroline Graff Anne Kinhult Ståhlbom Håkan Thonberg Inger Nennesmo Anne Börjesson-Hanson Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Valentina Bessi Irene Piaceri Isabel Santana Beatriz Santiago Isabel Santana Maria Helena Ribeiro Maria Rosário Almeida Catarina Oliveira João Massano Carolina Garret Paula Pires Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Stayko Sarafov Ivailo Tournev Albena Jordanova Ivailo Tournev Gabor G Kovacs Thomas Ströbel Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Frank Jessen Radoslav Matej Eva Parobkova Adrian Danel Thomas Arzberger Gian Maria Fabrizi Silvia Testi Sergio Ferrari Tiziana Cavallaro Eric Salmon Patrick Santens Patrick Cras

Hum Mutat 2013 Feb 4;34(2):363-73. Epub 2013 Jan 4.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638346PMC
February 2013

Autonomic nervous system involvement in a new CMT2B family.

J Peripher Nerv Syst 2012 Sep;17(3):361-4

Department of Neurological Sciences, University Federico II of Naples, Naples, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00415.xDOI Listing
September 2012

Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.

J Alzheimers Dis 2012 ;31(1):7-11

Department of Neurological, Neuropsychological, Morphological and Movement Sciences, Section of Neuropathology, University of Verona, Verona, Italy.

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http://dx.doi.org/10.3233/JAD-2012-120280DOI Listing
December 2012

Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.

J Peripher Nerv Syst 2011 Jun;16(2):119-29

Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00331.xDOI Listing
June 2011

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.

J Peripher Nerv Syst 2011 Mar;16(1):59-64

Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00319.xDOI Listing
March 2011

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

J Inherit Metab Dis 2011 Dec 19;34(6):1199-203. Epub 2011 Apr 19.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Pz. le Spedali Civili 1, 25100, Brescia, Italy.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9332
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http://link.springer.com/10.1007/s10545-011-9332-6
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http://dx.doi.org/10.1007/s10545-011-9332-6DOI Listing
December 2011

Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial.

Lancet Neurol 2011 Apr;10(4):320-8

Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Foundation, Carlo Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1016/S1474-4422(11)70025-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154498PMC
April 2011

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Brain 2011 Feb 19;134(Pt 2):608-17. Epub 2011 Jan 19.

Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, 37134 Verona, Italy.

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http://brain.oxfordjournals.org/content/brain/134/2/608.full
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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/awq374DOI Listing
February 2011

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

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy.

Neuromuscul Disord 2009 Dec 10;19(12):849-52. Epub 2009 Nov 10.

Department of Neurology San Martino's Hospital, Belluno, Italy.

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http://dx.doi.org/10.1016/j.nmd.2009.09.004DOI Listing
December 2009

A novel mutation of aprataxin associated with ataxia ocular apraxia type 1: phenotypical and genotypical characterization.

J Neurol Sci 2007 Sep 18;260(1-2):219-24. Epub 2007 Jun 18.

Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1016/j.jns.2007.05.015DOI Listing
September 2007

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

Brain 2007 Feb 18;130(Pt 2):394-403. Epub 2006 Oct 18.

Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Italy.

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http://dx.doi.org/10.1093/brain/awl284DOI Listing
February 2007

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

Neuromuscul Disord 2006 Mar 20;16(3):183-7. Epub 2006 Feb 20.

Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Policlinico G.B. Rossi, P.le L.A. Scuro 10, 37134 Verona, Italy.

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http://dx.doi.org/10.1016/j.nmd.2006.01.006DOI Listing
March 2006

Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants.

J Biol Chem 2005 Jan 10;280(3):2378-87. Epub 2004 Nov 10.

Dipartimento di Scienze e Tecnologie Biomediche, Sezione di Biologia and MATI Center of Excellence, Universitá di Udine, Piazza le Kolbe 4, 33100 Udine, Italy.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M405104200
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http://dx.doi.org/10.1074/jbc.M405104200DOI Listing
January 2005

Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.

J Neurol 2002 Sep;249(9):1298-302

Department of Neurological and Visual Science, Section of Clinical Neurology, Policlinico GB Rossi, P.le LA Scuro 1, 37134 Verona, Italy.

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http://dx.doi.org/10.1007/s00415-002-0810-5DOI Listing
September 2002