Massimiliano Filosto

Massimiliano Filosto

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Massimiliano Filosto

Massimiliano Filosto

Publications by authors named "Massimiliano Filosto"

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Human leukocyte antigens class II in CIDP spectrum neuropathies.

J Neurol Sci 2019 Dec 23;407:116533. Epub 2019 Oct 23.

Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili" and University of Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116533DOI Listing
December 2019

Editorial: Iron and Neurodegeneration.

Front Neurosci 2019 20;13:1382. Epub 2019 Dec 20.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.3389/fnins.2019.01382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6933611PMC
December 2019

Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.

Neuromuscul Disord 2019 09 30;29(9):657-663. Epub 2019 Jul 30.

Center for Neuromuscular Diseases, Unit of Neurology, ASST "Spedali Civili", Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.07.007DOI Listing
September 2019

Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III.

Case Rep Neurol Med 2019 22;2019:4839793. Epub 2019 Jul 22.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1155/2019/4839793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679856PMC
July 2019

C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis.

Neuromolecular Med 2019 06 11;21(2):150-159. Epub 2019 Mar 11.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1007/s12017-019-08528-8DOI Listing
June 2019

Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial.

Brain Stimul 2019 Sep - Oct;12(5):1332-1334. Epub 2019 Jun 8.

Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.brs.2019.06.011DOI Listing
June 2019

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives.

Front Neurol 2019 11;10:78. Epub 2019 Feb 11.

Unit of Neurology, Center for Neuromuscular Diseases, ASST Spedali Civili and University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.3389/fneur.2019.00078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378279PMC
February 2019

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

J Clin Med 2018 Oct 26;7(11). Epub 2018 Oct 26.

Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, 25100 Brescia, Italy.

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http://www.mdpi.com/2077-0383/7/11/389
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http://dx.doi.org/10.3390/jcm7110389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262582PMC
October 2018

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

Neurogenetics 2017 Dec 9;18(4):219-225. Epub 2017 Oct 9.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology ASST "Spedali Civili", University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1007/s10048-017-0525-5DOI Listing
December 2017

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study.

Neurodegener Dis 2016 6;16(5-6):411-6. Epub 2016 Aug 6.

Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1159/000446802DOI Listing
September 2017

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles.

Mol Cell Probes 2017 04 17;32:60-64. Epub 2016 Oct 17.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Biotechnology Laboratory, Department of Diagnostics, Civic Hospital of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.mcp.2016.10.008DOI Listing
April 2017

Mitochondrial diseases: advances and issues.

Appl Clin Genet 2017 15;10:21-26. Epub 2017 Feb 15.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia, Brescia, Italy.

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http://dx.doi.org/10.2147/TACG.S94267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317313PMC
February 2017

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript.

Neuromuscul Disord 2016 10 16;26(10):662-665. Epub 2016 Aug 16.

Center for Neuromuscular Diseases and Neuropathies, Unit of Neurology, ASST "Spedali Civili", University of Brescia, Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.08.007DOI Listing
October 2016

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

Authors:
Wouter van Rheenen Aleksey Shatunov Annelot M Dekker Russell L McLaughlin Frank P Diekstra Sara L Pulit Rick A A van der Spek Urmo Võsa Simone de Jong Matthew R Robinson Jian Yang Isabella Fogh Perry Tc van Doormaal Gijs H P Tazelaar Max Koppers Anna M Blokhuis William Sproviero Ashley R Jones Kevin P Kenna Kristel R van Eijk Oliver Harschnitz Raymond D Schellevis William J Brands Jelena Medic Androniki Menelaou Alice Vajda Nicola Ticozzi Kuang Lin Boris Rogelj Katarina Vrabec Metka Ravnik-Glavač Blaž Koritnik Janez Zidar Lea Leonardis Leja Dolenc Grošelj Stéphanie Millecamps François Salachas Vincent Meininger Mamede de Carvalho Susana Pinto Jesus S Mora Ricardo Rojas-García Meraida Polak Siddharthan Chandran Shuna Colville Robert Swingler Karen E Morrison Pamela J Shaw John Hardy Richard W Orrell Alan Pittman Katie Sidle Pietro Fratta Andrea Malaspina Simon Topp Susanne Petri Susanne Abdulla Carsten Drepper Michael Sendtner Thomas Meyer Roel A Ophoff Kim A Staats Martina Wiedau-Pazos Catherine Lomen-Hoerth Vivianna M Van Deerlin John Q Trojanowski Lauren Elman Leo McCluskey A Nazli Basak Ceren Tunca Hamid Hamzeiy Yesim Parman Thomas Meitinger Peter Lichtner Milena Radivojkov-Blagojevic Christian R Andres Cindy Maurel Gilbert Bensimon Bernhard Landwehrmeyer Alexis Brice Christine A M Payan Safaa Saker-Delye Alexandra Dürr Nicholas W Wood Lukas Tittmann Wolfgang Lieb Andre Franke Marcella Rietschel Sven Cichon Markus M Nöthen Philippe Amouyel Christophe Tzourio Jean-François Dartigues Andre G Uitterlinden Fernando Rivadeneira Karol Estrada Albert Hofman Charles Curtis Hylke M Blauw Anneke J van der Kooi Marianne de Visser An Goris Markus Weber Christopher E Shaw Bradley N Smith Orietta Pansarasa Cristina Cereda Roberto Del Bo Giacomo P Comi Sandra D'Alfonso Cinzia Bertolin Gianni Sorarù Letizia Mazzini Viviana Pensato Cinzia Gellera Cinzia Tiloca Antonia Ratti Andrea Calvo Cristina Moglia Maura Brunetti Simona Arcuti Rosa Capozzo Chiara Zecca Christian Lunetta Silvana Penco Nilo Riva Alessandro Padovani Massimiliano Filosto Bernard Muller Robbert Jan Stuit Ian Blair Katharine Zhang Emily P McCann Jennifer A Fifita Garth A Nicholson Dominic B Rowe Roger Pamphlett Matthew C Kiernan Julian Grosskreutz Otto W Witte Thomas Ringer Tino Prell Beatrice Stubendorff Ingo Kurth Christian A Hübner P Nigel Leigh Federico Casale Adriano Chio Ettore Beghi Elisabetta Pupillo Rosanna Tortelli Giancarlo Logroscino John Powell Albert C Ludolph Jochen H Weishaupt Wim Robberecht Philip Van Damme Lude Franke Tune H Pers Robert H Brown Jonathan D Glass John E Landers Orla Hardiman Peter M Andersen Philippe Corcia Patrick Vourc'h Vincenzo Silani Naomi R Wray Peter M Visscher Paul I W de Bakker Michael A van Es R Jeroen Pasterkamp Cathryn M Lewis Gerome Breen Ammar Al-Chalabi Leonard H van den Berg Jan H Veldink

Nat Genet 2016 09 25;48(9):1043-8. Epub 2016 Jul 25.

Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.

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http://dx.doi.org/10.1038/ng.3622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556360PMC
September 2016

A very slowly progressive neurogenic 'man-in-the-barrel' syndrome.

Amyotroph Lateral Scler Frontotemporal Degener 2015 24;16(5-6):425-6. Epub 2015 Feb 24.

a Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital 'Spedali Civili' , Brescia , Italy.

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http://dx.doi.org/10.3109/21678421.2015.1009118DOI Listing
August 2016

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

Amyotroph Lateral Scler Frontotemporal Degener 2015 12;16(5-6):324-30. Epub 2015 May 12.

a Laboratory of Neurological Disorders, IRCCS-Istituto di Ricerche Farmacologiche 'Mario Negri' , Milan , Italy.

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http://dx.doi.org/10.3109/21678421.2015.1040028DOI Listing
August 2016

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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http://dx.doi.org/10.1212/WNL.0000000000002800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932234PMC
July 2016

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease.

Mol Genet Metab Rep 2016 Jun 17;7:93. Epub 2016 May 17.

Unit of Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901168PMC
June 2016

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

Mol Genet Metab Rep 2016 Mar 27;6:70-3. Epub 2016 Feb 27.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789388PMC
March 2016

A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype.

J Clin Neuromuscul Dis 2015 Mar;16(3):153-8

*Section for Neuromuscular Diseases and Neuropathies, Clinical Neurology, University Hospital "Spedali Civili," Brescia, Italy; and †Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Lecco, Italy.

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http://dx.doi.org/10.1097/CND.0000000000000063DOI Listing
March 2015

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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http://dx.doi.org/10.1210/jc.2014-2763DOI Listing
February 2015

Very late-onset friedreich ataxia with laryngeal dystonia.

Case Rep Neurol 2014 Sep-Dec;6(3):287-90. Epub 2014 Dec 12.

Section for Neuromuscular Diseases and Neuropathies, Unit of Clinical Neurology, University Hospital 'Spedali Civili', Brescia, Italy.

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http://dx.doi.org/10.1159/000370062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296233PMC
February 2015

Strategies for treating mitochondrial disorders: an update.

Mol Genet Metab 2014 Dec 8;113(4):253-60. Epub 2014 Oct 8.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.09.013DOI Listing
December 2014

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2.

J Craniovertebr Junction Spine 2014 Jul;5(3):137-8

Unit of Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili" - Brescia, Italy.

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http://www.jcvjs.com/text.asp?2014/5/3/137/142310
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http://dx.doi.org/10.4103/0974-8237.142310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201016PMC
July 2014

Small nerve fiber pathology in critical illness.

PLoS One 2013 30;8(9):e75696. Epub 2013 Sep 30.

Department of Anesthesia and Critical Care Medicine, Section of Neuroanesthesia and Neurocritical Care, University of Brescia at Spedali Civili, Brescia, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075696PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787101PMC
May 2014

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

J Neurol 2014 Feb 13;261(2):373-81. Epub 2013 Dec 13.

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

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http://dx.doi.org/10.1007/s00415-013-7206-6DOI Listing
February 2014

MR neurography in diagnosing nondiabetic lumbosacral radiculoplexus neuropathy.

J Neuroimaging 2013 Oct 10;23(4):543-4. Epub 2013 Jun 10.

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy.

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http://dx.doi.org/10.1111/jon.12039DOI Listing
October 2013

Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype.

Clin Neurol Neurosurg 2013 Oct 27;115(10):2217-8. Epub 2013 Jul 27.

Centre for Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467130022
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http://dx.doi.org/10.1016/j.clineuro.2013.06.020DOI Listing
October 2013

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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http://dx.doi.org/10.1212/WNL.0b013e3182a6cb4bDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795612PMC
October 2013

Non-muscle involvement in late-onset glycogenosis II.

Acta Myol 2013 Oct;32(2):91-4

Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Brescia, Italy;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3866903PMC
October 2013

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.

Neurol Sci 2013 Sep 18;34(9):1699-701. Epub 2012 Dec 18.

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://dx.doi.org/10.1007/s10072-012-1266-8DOI Listing
September 2013

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect.

Neurol Sci 2012 Dec 22;33(6):1383-7. Epub 2011 Dec 22.

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

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http://dx.doi.org/10.1007/s10072-011-0900-1DOI Listing
December 2012

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

J Neurol 2012 Dec 19;259(12):2699-706. Epub 2012 Jun 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://dx.doi.org/10.1007/s00415-012-6572-9DOI Listing
December 2012

Critical illness myopathy.

Curr Opin Rheumatol 2012 Nov;24(6):616-22

Division of Neuroanesthesia and Neurocritical Care, Department of Anesthesia, Intensive Care and Perioperative Medicine, University of Brescia at Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1097/BOR.0b013e3283588d2fDOI Listing
November 2012

Clinical spectrum and evolution of monoclonal gammopathy-associated neuropathy: an observational study.

Neurologist 2012 Nov;18(6):378-84

Unit of Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1097/NRL.0b013e31826a99e9DOI Listing
November 2012

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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http://dx.doi.org/10.1159/000346260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3551392PMC
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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http://www.hindawi.com/journals/gri/2012/287432/
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http://dx.doi.org/10.1155/2012/287432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335728PMC
August 2012

Tetracyclines and neuromuscular disorders.

Curr Neuropharmacol 2012 Jun;10(2):134-8

Department of Neuroscience, Neurological Clinic, University of Pisa, Italy, Via Roma.

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http://dx.doi.org/10.2174/157015912800604498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386503PMC
June 2012

Drugs and mitochondrial diseases: 40 queries and answers.

Expert Opin Pharmacother 2012 Mar 31;13(4):527-43. Epub 2012 Jan 31.

University of Pisa, Neurological Clinic, Department of Neuroscience, Via Roma 67, 56126 Pisa, Italy.

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http://dx.doi.org/10.1517/14656566.2012.657177DOI Listing
March 2012

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

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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http://link.springer.com/content/pdf/10.1007/s00415-011-6104
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http://link.springer.com/10.1007/s00415-011-6104-z
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http://dx.doi.org/10.1007/s00415-011-6104-zDOI Listing
October 2011

Involvement of the central nervous system myelin in a POEMS patient.

Clin Neurol Neurosurg 2011 Feb 5;113(2):164-6. Epub 2010 Nov 5.

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

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http://dx.doi.org/10.1016/j.clineuro.2010.10.005DOI Listing
February 2011

May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?

Int J Alzheimers Dis 2011 Feb 22;2011:709061. Epub 2011 Feb 22.

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy.

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http://dx.doi.org/10.4061/2011/709061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3056451PMC
February 2011

Current options in the treatment of mitochondrial diseases.

Recent Pat CNS Drug Discov 2010 Nov;5(3):203-9

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

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http://dx.doi.org/10.2174/157488910793362412DOI Listing
November 2010

Limb-girdle muscular dystrophy-associated protein diseases.

Neurologist 2010 Nov;16(6):340-52

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

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http://dx.doi.org/10.1097/NRL.0b013e3181d35b39DOI Listing
November 2010

Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy.

J Neurol Sci 2009 Sep 16;284(1-2):179-81. Epub 2009 Apr 16.

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

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http://dx.doi.org/10.1016/j.jns.2009.03.027DOI Listing
September 2009

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.

Nutr Rev 2009 Aug;67(8):427-38

Department of Neuroscience, Neurological Clinic, University of Pisa, Italy.

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http://dx.doi.org/10.1111/j.1753-4887.2009.00221.xDOI Listing
August 2009

Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype.

Neurosci Lett 2008 Oct 8;444(1):83-6. Epub 2008 Aug 8.

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, 56126 Pisa, Italy.

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http://dx.doi.org/10.1016/j.neulet.2008.08.013DOI Listing
October 2008

Mitochondrial DNA sequence variation and neurodegeneration.

Hum Genomics 2008 Sep;3(1):71-8

Department of Neuroscience, Neurological Clinic, University of Pisa, Via Roma 67, Pisa, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525185PMC
http://dx.doi.org/10.1186/1479-7364-3-1-71DOI Listing
September 2008

Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Neuromuscul Disord 2008 Mar 14;18(3):204-9. Epub 2008 Mar 14.

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

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http://dx.doi.org/10.1016/j.nmd.2007.12.005DOI Listing
March 2008