Mauro Monforte

Mauro Monforte

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Mauro Monforte

Mauro Monforte

Publications by authors named "Mauro Monforte"

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Muscle hypertrophy in amyloid myopathy.

Neuromuscul Disord 2019 Feb 21;29(2):150-151. Epub 2018 Dec 21.

Unità Operativa Complessa di Neurologia, Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS - Istituto di Neurologia, Università Cattolica del Sacro Cuore, Roma, Italy.

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http://dx.doi.org/10.1016/j.nmd.2018.12.010DOI Listing
February 2019

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2.

Eur Neurol 2018 13;79(3-4):166-170. Epub 2018 Mar 13.

Institute of Neurology, Catholic University of the Sacred Heart, Fondazione Policlinico A. Gemelli, Rome, Italy.

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http://dx.doi.org/10.1159/000487508DOI Listing
January 2019

Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Mol Neurobiol 2018 Apr 29;55(4):2959-2966. Epub 2017 Apr 29.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Largo A. Gemelli, 8, 00168, Rome, Italy.

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http://dx.doi.org/10.1007/s12035-017-0563-xDOI Listing
April 2018

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

J Neurol 2018 Mar 22;265(3):542-551. Epub 2018 Jan 22.

Istituto di Neurologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario "A. Gemelli", Largo A. Gemelli 8, 00168, Rome, Italy.

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http://link.springer.com/10.1007/s00415-018-8741-y
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http://dx.doi.org/10.1007/s00415-018-8741-yDOI Listing
March 2018

To the Editor.

Can J Neurol Sci 2017 Jul 1;44(4):463-464. Epub 2017 Feb 1.

2Institute of Neurology,Policlinico "A. Gemelli" Foundation University Hospital,Rome,Italy.

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http://dx.doi.org/10.1017/cjn.2016.447DOI Listing
July 2017

Concentric muscle involvement in POLG-related distal myopathy.

Neuromuscul Disord 2017 05 7;27(5):500-501. Epub 2017 Mar 7.

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

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https://linkinghub.elsevier.com/retrieve/pii/S09608966163119
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http://dx.doi.org/10.1016/j.nmd.2017.03.001DOI Listing
May 2017

Rinsing after spinning: plasmapheresis in EBV-related post-infectious cerebellitis.

J Neurol 2017 Mar 4;264(3):576-577. Epub 2017 Jan 4.

Institute of Neurology, Policlinico "A. Gemelli" Foundation University Hospital, Rome, Italy.

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http://dx.doi.org/10.1007/s00415-016-8385-8DOI Listing
March 2017

Matrin 3 variants are frequent in Italian ALS patients.

Neurobiol Aging 2017 01 6;49:218.e1-218.e7. Epub 2016 Oct 6.

Department of Geriatrics, Neurosciences and Orthopedics, Clinic Center NEMO-Roma, Institute of Neurology, Catholic University School of Medicine, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.09.023DOI Listing
January 2017

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

J Neurol 2016 Oct 20;263(10):2133-5. Epub 2016 Aug 20.

Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

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http://dx.doi.org/10.1007/s00415-016-8268-zDOI Listing
October 2016

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.

J Med Genet 2016 05 1;53(5):348-55. Epub 2016 Feb 1.

Institute of Cell Biology and Neurobiology, National Research Council of Italy, Monterotondo (Rome), Italy.

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http://dx.doi.org/10.1136/jmedgenet-2015-103436DOI Listing
May 2016

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.

Muscle Nerve 2015 Dec 31;52(6):956-62. Epub 2015 Aug 31.

Institute of Neurology, Catholic University School of Medicine, Rome, Italy.

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http://doi.wiley.com/10.1002/mus.24661
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http://dx.doi.org/10.1002/mus.24661DOI Listing
December 2015

Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.

Clin Neurophysiol 2015 Dec 20;126(12):2406-8. Epub 2015 Mar 20.

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

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https://linkinghub.elsevier.com/retrieve/pii/S13882457150017
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http://dx.doi.org/10.1016/j.clinph.2015.03.005DOI Listing
December 2015

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

Neuromuscul Disord 2015 Nov 17;25(11):898-903. Epub 2015 Jul 17.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.nmd.2015.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768080PMC
November 2015

Prevalence of congenital muscular dystrophy in Italy: a population study.

Neurology 2015 Mar 4;84(9):904-11. Epub 2015 Feb 4.

From the Departments of Paediatrics and Neurology (A.G., F.B., G.T., M. Monforte, E.R., M.P., E.M.), Catholic University, Rome; Unit of Neuromuscular and Neurodegenerative Disorders (A.D., G.T., E.B.), Department of Neurosciences, Bambino Gesù Children's Hospital, Rome; Pediatric Neurology and Neuromuscular Disease and Immunology Unit (I.M., M. Mora, L.M.), Istituto Neurologico Besta, Milan; Department of Neurosciences, Psychiatry and Anaesthesiology (S.M.), University of Messina; Neuromuscular Disease Unit (C.B., C.M.), G. Gaslini Institute, Genoa; Department of Neurosciences (E.P.), University of Padua, Italy; Department of Developmental Neuroscience and Molecular Medicine Neuromuscular Unit (G.A., R.B., F.M.S.), Stella Maris Institute, Pisa; Department of Neurological Sciences (F. Magri, G.P.C.), IRCCS Ospedale Maggiore Policlinico, University of Milan; Child Neurology and Psychiatry Unit (A.B.), IRCCS C. Mondino Foundation; Neuromuscular and Rare Diseases Unit (M. Moggio), IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, Milano; Child Neurology and Psychiatry Unit (A.P.), IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, Bologna; Cardiomiologia e Genetica Medica (R.P., L.P.), Dipartimento di Medicina Sperimentale Seconda Università di Napoli; Neuromuscular Center (T.M.), S.G. Battista Hospital, University of Turin; Centro Nemo (K.G.), Milan; Neuromuscular Unit (M.V.), Nigrisoli Hospital, Bologna; Section of Medical Genetics (F.G., A.F.), Department of Experimental and Diagnostic Medicine, Ferrara, Italy; and Dubowitz Neuromuscular Centre (F. Muntoni), UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351663PMC
March 2015

Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L.

Neuromuscul Disord 2014 Dec 9;24(12):1118-9. Epub 2014 Jul 9.

Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland; Neurology Department, Vaasa Central Hospital, Vaasa, Finland.

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http://dx.doi.org/10.1016/j.nmd.2014.06.442DOI Listing
December 2014

Calf muscle involvement in Becker muscular dystrophy: when size does not matter.

J Neurol Sci 2014 Dec 22;347(1-2):301-4. Epub 2014 Oct 22.

Don Carlo Gnocchi Onlus Foundation, Italy.

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http://dx.doi.org/10.1016/j.jns.2014.10.030DOI Listing
December 2014

Tuberculous nephritis accompanying neuromyelitis optica: causal or coincidental association?

J Neurol 2014 May 27;261(5):1028-30. Epub 2014 Mar 27.

Don Carlo Gnocchi ONLUS Foundation, Milan, Italy,

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http://dx.doi.org/10.1007/s00415-014-7323-xDOI Listing
May 2014

Case of postpartum Parsonage-Turner syndrome.

Muscle Nerve 2014 Feb 3;49(2):294-5. Epub 2013 Dec 3.

Don Carlo Gnocchi Onlus Foundation, Milan, Italy.

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http://dx.doi.org/10.1002/mus.24073DOI Listing
February 2014

Teaching video neuroimages: complicated scapular winging.

Neurology 2013 Sep;81(12):e95

From the Institute of Neurology (M.M., E.I., E.R.), Catholic University School of Medicine, Rome; and Don Carlo Gnocchi Onlus Foundation (G.T.), Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0b013e3182a4a4e6DOI Listing
September 2013

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.

Acta Neuropathol 2013 Jan 27;125(1):169-71. Epub 2012 Sep 27.

Don Carlo Gnocchi Onlus Foundation, Milan, Italy.

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http://dx.doi.org/10.1007/s00401-012-1049-6DOI Listing
January 2013

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration.

Neurol Sci 2011 Feb 2;32(1):171-4. Epub 2010 Oct 2.

Institute of Neurology, Catholic University School of Medicine, Largo A. Gemelli 8, 00168, Rome, Italy.

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http://link.springer.com/10.1007/s10072-010-0423-1
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http://dx.doi.org/10.1007/s10072-010-0423-1DOI Listing
February 2011