Publications by authors named "Paola Tonin"

64Publications

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

Acetylcholine Receptor-Antibody-Positive Myasthenia Gravis Presenting with Early Atrophy and Nonfluctuating Weakness of Proximal Limb Muscles.

J Clin Neurol 2020 Oct;16(4):714-716

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

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October 2020

Non-Hematologic Toxicity of Bortezomib in Multiple Myeloma: The Neuromuscular and Cardiovascular Adverse Effects.

Cancers (Basel) 2020 Sep 7;12(9). Epub 2020 Sep 7.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, 37134 Verona, Italy.

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September 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

Amyloid myopathy: an intriguing diagnosis.

Clin Neurol Neurosurg 2020 Aug 18;195:105848. Epub 2020 Apr 18.

Department of Biomedical and Neuromotor Sciences, Alma Mater University of Bologna, Bologna, Italy.

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August 2020

Multiple acyl-COA dehydrogenase deficiency in elderly carriers.

J Neurol 2020 May 29;267(5):1414-1419. Epub 2020 Jan 29.

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

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May 2020

A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture.

Clin Neurol Neurosurg 2019 Nov 23;186:105536. Epub 2019 Sep 23.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy. Electronic address:

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November 2019

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.

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October 2019

Benign acute viral myositis in African migrants: A clinical, serological, and pathological study.

Muscle Nerve 2019 11 30;60(5):586-590. Epub 2019 Aug 30.

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

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November 2019

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.

Neuromuscul Disord 2018 04 31;28(4):374-375. Epub 2018 Jan 31.

Departament de Patología Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), Barcelona, Spain. Electronic address:

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April 2018

A case of multiple sclerosis and necrotizing autoimmune myopathy with anti-SRP antibodies.

Mult Scler Relat Disord 2018 Jan 23;19:118-120. Epub 2017 Nov 23.

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

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January 2018

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Neuromuscul Disord 2018 02 31;28(2):137-143. Epub 2017 Oct 31.

Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address:

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February 2018

Short stature and high serum transaminase levels: growth hormone deficiency in a child with Becker muscular dystrophy.

Minerva Pediatr 2017 10;69(5):460-462

Unit of Pediatrics, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics, University of Verona, Verona, Italy.

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October 2017

Teaching Video Neuro: Bent spine syndrome as an early presentation of late-onset Pompe disease.

Neurology 2017 07;89(3):e21-e22

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

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July 2017

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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June 2016

Prevalence of asymptomatic vertebral fractures in late-onset Pompe disease.

J Clin Endocrinol Metab 2015 Feb 14;100(2):401-6. Epub 2014 Nov 14.

Internal Medicine (F.B., M.B., S.P.), Department of Medicine, and Department of Neurological Sciences and Movement (F.Z., M.S., P.T.), University of Verona, 37134 Verona, Italy; Neuromuscular Unit (M.M., V.L.), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan 20122, Italy; Department of Neurosciences (C.A., C.S.), Sciences Scienze Neurologiche, Psichiatriche, Sensoriali, Ricostruttive, Riabilitative, University of Padova, Padova 35128, Italy; Clinical Neurology (M.F., S.C., A.T.), Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia 25123, Italy; and Department of Public Health and Neurosciences (S.R.), University of Pavia, Pavia 27100, Italy.

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February 2015

Autophagy, inflammation and innate immunity in inflammatory myopathies.

PLoS One 2014 3;9(11):e111490. Epub 2014 Nov 3.

Neurology IV, Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto Neurologico Carlo Besta, Milan, Italy.

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August 2015

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Neurology 2013 Oct 21;81(14):1269-71. Epub 2013 Aug 21.

From St. George's (B.E.B., M.D.B.), University of London, UK; Institute of Neurology (M.S., P.T.), University of Verona; University Hospital "Spedali Civili" (M.F.), Brescia, Italy; and Kings College Hospital (N.M.), London, UK.

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October 2013

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Case Rep Neurol 2012 Sep 20;4(3):248-53. Epub 2012 Dec 20.

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

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September 2012

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient.

Genet Res Int 2012 20;2012:287432. Epub 2012 Feb 20.

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

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August 2012

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.

Neuromuscul Disord 2012 Jan 9;22(1):50-5. Epub 2012 Jan 9.

Unit of Molecular Neurogenetics, The Foundation "Carlo Besta" Institute of Neurology-IRCCS, Milan, Italy.

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January 2012

Involvement of the mitochondrial compartment in human NCL fibroblasts.

Biochem Biophys Res Commun 2011 Dec 11;416(1-2):159-64. Epub 2011 Nov 11.

Department of Neurological, Psychological, Morphological and Motor Sciences, Divisions of Neurology (Child Neurology) and Neuropathology, University of Verona Medical School, Verona, Italy.

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December 2011

The role of mitochondria in neurodegenerative diseases.

J Neurol 2011 Oct 22;258(10):1763-74. Epub 2011 May 22.

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

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October 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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December 2011

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Neuromuscul Disord 2010 Jan 27;20(1):44-8. Epub 2009 Nov 27.

Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France.

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January 2010

Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.

Neuromuscul Disord 2009 Nov 23;19(11):776-8. Epub 2009 Sep 23.

Department of Neurological Sciences and Vision, Section of Neurology, University of Verona, 37134 Verona, Italy.

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November 2009

Multineuropathy in a patient with HBV infection, polyarteritis nodosa and celiac disease.

Rheumatol Int 2009 Mar 23;29(5):579-81. Epub 2008 Sep 23.

Department of Neurological Sciences, University of Verona, Verona, Italy.

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March 2009

Neuropathology of mitochondrial diseases.

Biosci Rep 2007 Jun;27(1-3):23-30

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

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June 2007

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy.

Brain 2006 Aug 19;129(Pt 8):2085-92. Epub 2006 May 19.

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

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August 2006

Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease.

J Neurol 2003 Jun;250(6):702-6

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

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June 2003

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

Acta Neuropathol 2003 Jul 30;106(1):57-65. Epub 2003 Apr 30.

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

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July 2003

Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases.

Acta Neuropathol 2002 Mar 16;103(3):215-20. Epub 2001 Nov 16.

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

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March 2002