Publications by authors named "Antonio Toscano"

100Publications

Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects.

Brain Sci 2020 Dec 9;10(12). Epub 2020 Dec 9.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.

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December 2020

Endocrine myopathies: clinical and histopathological features of the major forms.

Acta Myol 2020 Sep 1;39(3):130-135. Epub 2020 Sep 1.

Department of Clinical and Experimental Medicine, University of Messina, Italy.

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September 2020

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.

Neurol Genet 2020 Dec 20;6(6):e519. Epub 2020 Oct 20.

Department of Clinical and Experimental Medicine (V.M., F.G., G.S., M.M.), Neurological Clinic, University of Pisa, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna (V.C., M.L.V.), UOC Clinica Neurologica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences (DIBINEM) (V.C., M.L.V.), University of Bologna, Italy; Dino Ferrari Centre (G.P.C.), Department of Pathophysiology and Transplantation (DEPT), University of Milan, Italy; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (G.P.C., M.M.), Neuromuscular and Rare Disease Unit; Unit of Neurology (M.F.), ASST "Spedali Civili" and University of Brescia, Italy; UO Medical Genetics and Neurogenetics (C.L., S.M.), Fondazione IRCCS Istituto Neurologico C.Besta, Milan, Italy; Neuromuscular Unit (M.T., S.B.), Department of Neurosciences, University of Torino, Italy; Department of Clinical and Experimental Medicine (O.M., A.T., G.T.), UOC Neurologia e Malattie Neuromuscolari, University of Messina, Italy; UOC Neurofisiopatologia Fondazione Policlinico Universitario A. Gemelli IRCCS (S.S., G.P.), Roma, Italy; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore (S.S., G.P.), Roma, Italy; Department of Neurosciences (P.T.), Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Italy; Neurorehabilitation Unit (A.M.), Department of Neurosciences, University Hospital of Verona, Italy; Neuromuscular Unit (S.B.), Department of Neurosciences, University of Torino, Italy.

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December 2020

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

Orphanet J Rare Dis 2020 10 15;15(1):187. Epub 2020 Oct 15.

Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, and Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Pg. Vall d'Hebron 119, 08035, Barcelona, Catalonia, Spain.

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October 2020

Ultrasound-guided thoracic wall nerve blocks in cardiac surgery: has the best yet to come?

Minerva Anestesiol 2020 Oct 15. Epub 2020 Oct 15.

Department of Anesthesia and Critical Care, Città della Salute e della Scienza di Torino, Univeristy of Turin, Turin, Italy.

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October 2020

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta Myol 2020 Jun 1;39(2):57-66. Epub 2020 Jun 1.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Italy.

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June 2020

MuSK-Associated Myasthenia Gravis: Clinical Features and Management.

Front Neurol 2020 23;11:660. Epub 2020 Jul 23.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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July 2020

Which are the factors influencing NIV adaptation and tolerance in ALS patients?

Neurol Sci 2020 Jul 24. Epub 2020 Jul 24.

Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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July 2020

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.

Front Neurol 2020 23;11:514. Epub 2020 Jun 23.

Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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June 2020

Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis.

Front Mol Neurosci 2020 23;13:102. Epub 2020 Jun 23.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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June 2020

The Serratus Anterior Plane Study: Continuous Deep Serratus Anterior Plane Block for Mitral Valve Surgery Performed in Right Minithoracotomy.

J Cardiothorac Vasc Anesth 2020 Nov 27;34(11):2975-2982. Epub 2020 May 27.

Department of Anesthesia and Critical Care, Città della Salute e della Scienza di Torino, University of Turin, Turin, Italy.

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November 2020

From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis.

Amyloid 2020 Dec 9;27(4):279-280. Epub 2020 Jun 9.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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December 2020

Description of a large cohort of Caucasian patients with V122I ATTRv amyloidosis: Neurological and cardiological features.

J Peripher Nerv Syst 2020 09 29;25(3):273-278. Epub 2020 May 29.

Unit of Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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September 2020

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.

Neuromuscul Disord 2020 04 24;30(4):336-339. Epub 2020 Feb 24.

Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada; Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, Canada.

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April 2020

Ultrasound assessment of diaphragm function in patients with late-onset Pompe disease.

Neurol Sci 2020 Aug 11;41(8):2175-2184. Epub 2020 Mar 11.

Unità Operativa Complessa di Neurologia e Malattie Neuromuscolari, Dipartimento di Medicina Clinica e Sperimentale, Università di Messina, Messina, Italy.

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August 2020

Myasthenia gravis after etanercept and ustekinumab treatment for psoriatic arthritis: A case report.

Neuromuscul Disord 2020 03 16;30(3):246-249. Epub 2020 Jan 16.

Department of Clinical and Experimental Medicine, Unit of Neurology and Neuromuscular Diseases, University of Messina, Messina, Italy. Electronic address:

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March 2020

Isolated Insular Stroke: Clinical Presentation.

Cerebrovasc Dis 2020 5;49(1):10-18. Epub 2020 Feb 5.

U.O.S.D. Stroke Unit, Department of Clinical and Experimental Medicine, AOU Policlinico G. Martino, University of Messina, Messina, Italy.

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September 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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May 2020

Acute ischemic stroke due to endocarditis from Brucella infection.

Neurol Sci 2020 Apr 22;41(4):953-954. Epub 2019 Oct 22.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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April 2020

Diagnostic tools in late onset Pompe disease (LOPD).

Ann Transl Med 2019 Jul;7(13):286

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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July 2019

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.

Ann Transl Med 2019 Jul;7(13):284

Neurology and Neuromuscular Disorders Unit, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

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July 2019

Awake Thoracic Epidural Anesthesia in Transapical Transcatheter Aortic Valve Implantation.

J Cardiothorac Vasc Anesth 2020 01 15;34(1):311-312. Epub 2019 Jul 15.

Department of Anesthesia and Critical Care, Città della Salute e della Scienza di Torino, University of Turin, Turin, Italy.

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January 2020

A genetic modifier of symptom onset in Pompe disease.

EBioMedicine 2019 May 25;43:553-561. Epub 2019 Mar 25.

Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic address:

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May 2019

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias.

Curr Neuropharmacol 2019 ;17(1):21-32

Department of Neurology, Columbia University Medical Center, New York, NY, 10032, United States.

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April 2019

Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports.

Medicine (Baltimore) 2017 Sep;96(38):e7839

IRCSS Centro Neurolesi "Bonino-Pulejo", Neuromuscular Disease Laboratory Department of Clinical and Experimental Medicine, University of Messina, Messina DIBIMIS, University of Palermo, Palermo, Italy.

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September 2017

Update on diagnostics of metabolic myopathies.

Curr Opin Neurol 2017 10;30(5):553-562

Department of Clinical and Experimental Medicine, University of Messina, Italy.

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October 2017

Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.

Neuromuscul Disord 2016 Dec 5;26(12):890-894. Epub 2016 Oct 5.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy. Electronic address:

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December 2016

Analysis of lipid profile in lipid storage myopathy.

J Chromatogr B Analyt Technol Biomed Life Sci 2016 Sep 1;1029-1030:157-168. Epub 2016 Jul 1.

Chromaleont s.r.l., c/o University of Messina, Polo Annunziata - viale Annunziata, 98168 Messina, Italy; "Dipartimento di Scienze Chimiche, Biologiche, Farmaceutiche ed Ambientali", University of Messina, Polo Annunziata - viale Annunziata, 98168 Messina, Italy. Electronic address:

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September 2016

Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.

J Neurol 2017 Apr 2;264(4):621-630. Epub 2016 Jul 2.

Department of Clinical and Experimental Medicine, Reference Center for Rare Neuromuscular Disorders, University of Messina, Messina, Italy.

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April 2017

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.

Neurology 2016 07 8;87(1):71-6. Epub 2016 Jun 8.

From the Dipartimento di Biochimica Biofisica e Patologia Generale (M.S., G.D.F., A. Torella, A.G., T.G., F.D.V.B., G.E., G.P., V.N.), Seconda Università di Napoli; Telethon Institute of Genetics and Medicine (M.S., G.D.F., A. Torella, M. Mutarelli, V.S.M., A.G., T.G., G.E., V.N.), Pozzuoli; U.O.C. Neurologia Pediatrica e Malattie Muscolari (C.F., C.M., C.B.), IRCCS Istituto Giannina Gaslini, Genova; Centro Dino Ferrari, Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti (F.M., D.R., G.P.C.), and Neuromuscular and Rare Disease Unit, Dipartimento di Neuroscienze (M. Moggio), Università degli Studi di Milano, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Dipartimento di Neuroscienze (M. Fanin, E.P.), Università di Padova; Dipartimento di Neuroscienze e Scienze Riproduttive ed Odontostomatologiche (L.R., L.S.), Università degli Studi di Napoli "Federico II," Napoli; Dipartimento di Medicina Clinica e Sperimentale (G.R., G.S.), Università degli Studi di Pisa; Medicina Molecolare (G.A., F.M.S.), IRCCS Fondazione Stella Maris, Pisa; Dipartimento di Medicina Sperimentale (L. Passamano, P.D., R.P., L. Politano) and Dipartimento di Scienze Mediche, Chirurgiche, Neurologiche, Metaboliche, e dell'Invecchiamento (O.F., S.S., G.D.I.), Seconda Università di Napoli; Dipartimento di Neuroscienze (A.R., M. Mora, L.M.), Istituto Besta, Milano; Don Carlo Gnocchi ONLUS Foundation (G.T.), Milano; Dipartimento di Neuroscienze (A.D., E.B.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy; Center for Medical Genetics (S.J., K.C.) and Department of Neurology (J.D.B.), Ghent University Hospital, Belgium; Dipartimento di Neuroscienze (O.M., C.R., S.M., A. Toscano), Università degli Studi di Messina, Italy; Folkhälsan Institute of Genetics (A.E., P.H., B.U.), University of Helsinki, Finland; Section for Neuromuscular Diseases and Neuropathies (M. Filosto), Unit of Clinical Neurology, University Hospital 'Spedali Civili,' Brescia, Italy; Neuromusc

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July 2016

Minutes of the European POmpe Consortium (EPOC) Meeting March 27 to 28, 2015, Munich, Germany.

Acta Myol 2015 Dec;34(2-3):141-3

Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center and Dept of Pediatrics, Rotterdam, the Netherlands;

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December 2015

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

J Mol Neurosci 2016 Jul 22;59(3):351-9. Epub 2016 Apr 22.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122, Milan, Italy.

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July 2016

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.

Neuromuscul Disord 2016 Apr-May;26(4-5):292-9. Epub 2016 Feb 17.

Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. Electronic address:

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January 2017

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

Pediatrics 2016 Apr 4;137(4). Epub 2016 Mar 4.

IRCCS Centro Neurolesi "Bonino Pulejo", SS113, via Palermo, c.da Casazza, Messina, Italy; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy;

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April 2016

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

J Neurol 2015 Dec 26;262(12):2684-90. Epub 2015 Sep 26.

Laboratory of Molecular Biology, Scientific Institute IRCCS E. Medea, Via D. L. Monza 20, 23842, Bosisio Parini, Lecco, Italy.

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December 2015

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscul Disord 2015 Jul 30;25(7):533-41. Epub 2015 Mar 30.

Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy; Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Università di Napoli, Napoli, Italy. Electronic address:

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July 2015

Breathing Pattern and Central Ventilatory Drive in Late-Onset Pompe Disease.

J Neuromuscul Dis 2015;2(s1):S49

Department of Neurosciences, University of Messina, Messina, Italy.

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January 2015

Foreword.

J Neuromuscul Dis 2015;2(s1):Si-Sii

Department of Neurosciences, University of Messina, Italy.

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January 2015

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Neurology 2014 Oct 1;83(18):1634-44. Epub 2014 Oct 1.

From the Department of Neurology IV (L. Maggi, G.B., D.K., P.B., L.C., R.M., L. Morandi), Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., L.T., E.B.), Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome; Child Neurology Unit (A.P.), IRCCS Institute of Neurological Sciences, Bologna; Department of Paediatric Neurology (S. Sivo, M.P., E.M.), Catholic University, Rome; Department of Clinical and Experimental Medicine (G.R., G.S.), Section of Neurology, University of Pisa; Department of Neuroscience Rita Levi Montalcini (L.V., T.M.), University of Torino; Cardiomyology and Medical Genetics (P.D., L.P.), Second Naples University; Arrhythmia Unit and Electrophysiology Laboratories (S. Sala), Institute of Experimental Neurology (Inspe) and Department of Neurology (M.S., S.C.P.) and Genomic Unit for the Diagnosis of Human Pathologies, Center for Translational Genomics and Bioinformatics (M.F.), San Raffaele Scientific Institute, Milan; Vita-Salute San Raffaele University (M.F.), Milan; Laboratory of Molecular Biology (M.F., S.B.), Diagnostica e Ricerca San Raffaele, Milan; Department of Neurosciences (E.P.), University of Padova, Padua; Department of Neurosciences (A.T., C.R.), University of Messina; National Research Council of Italy (G.L.), Institute of Molecular Genetics Unit of Bologna and Laboratory of Musculoskeletal Cell Biology IOR, Bologna; and Department of Public Health, Clinical and Molecular Medicine (N.C.), University of Cagliari, Italy.

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October 2014

Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection.

Neurol Sci 2014 Dec 1;35(12):2019-21. Epub 2014 Jun 1.

Dipartimento di Neuroscienze, Università di Messina, Messina, Italy.

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December 2014

Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD).

Acta Myol 2013 Oct;32(2):78-81

Department of Neurosciences, Reference Center for Rare Neuromuscular Disorders, University of Messina, Italy.

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October 2013