Marina Mora

Marina Mora

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Marina Mora

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Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.

Biochim Biophys Acta Mol Basis Dis 2020 Jan 7;1866(5):165662. Epub 2020 Jan 7.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, 20133, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2020.165662DOI Listing
January 2020

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies.

Nucleus 2018 ;9(1):398-409

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

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http://dx.doi.org/10.1080/19491034.2018.1471947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7000140PMC
September 2019

Aging-associated genes and microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.

FASEB J 2019 Jun 12;33(6):7155-7167. Epub 2019 Mar 12.

Neurology IV-Neuroimmunology and Neuromuscular Diseases Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Neurologico Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1096/fj.201801577RRDOI Listing
June 2019

HDAC8 regulates canonical Wnt pathway to promote differentiation in skeletal muscles.

J Cell Physiol 2019 May 24;234(5):6067-6076. Epub 2018 Sep 24.

Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1002/jcp.27341DOI Listing
May 2019

Expanding the central nervous system disease spectrum associated with FLNC mutation.

Muscle Nerve 2019 05 20;59(5):E33-E37. Epub 2019 Feb 20.

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

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http://dx.doi.org/10.1002/mus.26443DOI Listing
May 2019

Exome sequencing detects compound heterozygous nonsense LAMA2 mutations in two siblings with atypical phenotype and nearly normal brain MRI.

Neuromuscul Disord 2019 05 10;29(5):376-380. Epub 2019 Apr 10.

Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.04.001DOI Listing
May 2019

Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis.

Matrix Biol 2018 12 5;74:77-100. Epub 2018 Jul 5.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2018.07.003DOI Listing
December 2018

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient.

Acta Neuropathol Commun 2018 12 19;6(1):141. Epub 2018 Dec 19.

Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Temolo 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1186/s40478-018-0648-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299540PMC
December 2018

Engineering an Environment for the Study of Fibrosis: A 3D Human Muscle Model with Endothelium Specificity and Endomysium.

Cell Rep 2018 12;25(13):3858-3868.e4

IRCCS Istituto Ortopedico Galeazzi, Cell and Tissue Engineering Laboratory, Milano, Italy; Regenerative Medicine Technologies Lab, Ente Ospedaliero Cantonale, Lugano, Switzerland; Swiss Institute for Regenerative Medicine, Lugano, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183188
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http://dx.doi.org/10.1016/j.celrep.2018.11.092DOI Listing
December 2018

Botulinum toxin type A affects the transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients.

Toxicol In Vitro 2018 Aug 6;50:124-136. Epub 2018 Mar 6.

Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico "C. Besta", Milano, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S08872333183004
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http://dx.doi.org/10.1016/j.tiv.2018.02.008DOI Listing
August 2018

Test of Antifibrotic Drugs in a Cellular Model of Fibrosis Based on Muscle-Derived Fibroblasts from Duchenne Muscular Dystrophy Patients.

Methods Mol Biol 2018 ;1687:205-217

Muscle Cell Biology Lab, Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "C. Besta", Via Temolo 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1007/978-1-4939-7374-3_15DOI Listing
June 2018

Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER.

Adv Exp Med Biol 2017 ;1031:141-147

Neuromuscular and Neuroimmunology Unit, C. Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1007/978-3-319-67144-4_7DOI Listing
June 2018

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Biochim Biophys Acta Gene Regul Mech 2017 Nov 1;1860(11):1138-1147. Epub 2017 Sep 1.

Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy; CIRI Health Sciences & Technologies (HST), Bologna, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2017.08.010DOI Listing
November 2017

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

Neuromuscul Disord 2017 May 17;27(5):481-486. Epub 2017 Jan 17.

Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, Milan 20145, Italy; Department of Psychology, Catholic University of the Sacred Heart, Largo Gemelli, 1, Milan 20123, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.01.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424884PMC
May 2017

Pure myopathy with enlarged mitochondria associated to a new mutation in gene.

Mol Genet Metab Rep 2017 Mar 15;10:24-27. Epub 2016 Dec 15.

Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.ymgmr.2016.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217772PMC
March 2017

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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http://dx.doi.org/10.1016/j.nmd.2016.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862961PMC
January 2017

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies.

Front Mol Biosci 2016 30;3:63. Epub 2016 Sep 30.

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

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http://dx.doi.org/10.3389/fmolb.2016.00063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043021PMC
September 2016

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.

Eur J Pediatr 2016 Aug 16;175(8):1113-8. Epub 2016 Jan 16.

Unit of Child Neurology, Foundation IRCCS C.Besta Neurological Institute, Milan, Italy.

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http://dx.doi.org/10.1007/s00431-015-2685-3DOI Listing
August 2016

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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http://dx.doi.org/10.1007/s12031-016-0739-2DOI Listing
July 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

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

Sci Rep 2016 Feb 4;6:20466. Epub 2016 Feb 4.

Neuromuscular Diseases and Neuroimmunology Unit, IRCCS Neurological Institute C. Besta, Milano, Italy.

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http://dx.doi.org/10.1038/srep20466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4740890PMC
February 2016

Anti-fibrotic effect of pirfenidone in muscle derived-fibroblasts from Duchenne muscular dystrophy patients.

Life Sci 2016 Jan 8;145:127-36. Epub 2015 Dec 8.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00243205153010
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http://dx.doi.org/10.1016/j.lfs.2015.12.015DOI Listing
January 2016

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy.

Neurology 2015 Nov 23;85(21):1886-93. Epub 2015 Oct 23.

From the Neuromuscular and Rare Diseases Unit (L.P., S.T., L.V., M.S., M. Moggio), Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan; Laboratory of Molecular Medicine for Muscular and Neurodegenerative Diseases (A.D.), Research Center, Confocal Microscopy Facility (S.P.), and Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Bambino Gesù Children's Hospital, Rome; Center of Molecular and Genetic Epidemiology (C.F.), Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan; Dino Ferrari Center (F.M., G.P.C.), Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan; U.O. Neuromuscular Diseases and Neuroimmunology (L.M., M. Mora), Fondazione IRCCS Istituto Neurologico C. Besta, Milan; and Department of Neurosciences Rita Levi Montalcini (T.M.), University of Turin, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000002147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662699PMC
November 2015

Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy.

Biochim Biophys Acta 2015 Jul 17;1852(7):1451-64. Epub 2015 Apr 17.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2015.04.013DOI Listing
July 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 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

A rare mutation in MYH7 gene occurs with overlapping phenotype.

Biochem Biophys Res Commun 2015 Feb 7;457(3):262-6. Epub 2015 Jan 7.

Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Via Sergio Pansini 5, 80131 Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.12.098DOI Listing
February 2015

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Neuromuscul Disord 2015 Jan 10;25(1):55-9. Epub 2014 Sep 10.

Neuromuscular Disease and Immunology, Fondazione IRCCS Istituto Neurologico "C. Besta", Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.08.007DOI Listing
January 2015

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

J Med Genet 2014 Dec 17;51(12):824-33. Epub 2014 Oct 17.

Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France Inserm, U964, Illkirch, France CNRS, UMR7104, Illkirch, France University of Strasbourg, Illkirch, France Collège de France, Chaire de Génétique Humaine, Illkirch, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102623DOI Listing
December 2014

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Hum Mol Genet 2014 Nov 11;23(21):5781-92. Epub 2014 Jun 11.

Department of Pharmacology and Physiology and Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA,

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http://dx.doi.org/10.1093/hmg/ddu296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4189906PMC
November 2014

Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.

Cell Tissue Res 2014 May 11;356(2):427-43. Epub 2014 Apr 11.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.

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http://dx.doi.org/10.1007/s00441-014-1854-4DOI Listing
May 2014

Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Acta Myol 2013 Oct;32(2):85-90

Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3866895PMC
October 2013

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

Orphanet J Rare Dis 2013 Aug 30;8:129. Epub 2013 Aug 30.

UOSD Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto G, Gaslini, Largo G, Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766640PMC
August 2013

Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents.

Cell Tissue Res 2013 Jun 5;352(3):659-70. Epub 2013 Apr 5.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute C. Besta, Milano, Italy.

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http://dx.doi.org/10.1007/s00441-013-1601-2DOI Listing
June 2013

A role for inflammatory mediators in the modulation of the neurotrophin receptor p75NTR on human muscle precursor cells.

J Neuroimmunol 2012 Feb 22;243(1-2):100-2. Epub 2011 Dec 22.

Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.jneuroim.2011.12.001DOI Listing
February 2012

Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.

Histopathology 2011 Dec;59(6):1215-28

Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico C. Besta, Milano, Italy.

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http://dx.doi.org/10.1111/j.1365-2559.2011.04051.xDOI Listing
December 2011

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

Neurol Sci 2011 Oct 22;32(5):841-7. Epub 2011 Jun 22.

Department of Neurosciences, Catholic University School of Medicine, Policlinico A Gemelli, Largo A Gemelli 8, 00168 Rome, Italy.

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http://dx.doi.org/10.1007/s10072-011-0657-6DOI Listing
October 2011

Human neurotrophin receptor p75NTR defines differentiation-oriented skeletal muscle precursor cells: implications for muscle regeneration.

J Neuropathol Exp Neurol 2011 Feb;70(2):133-42

Neuroimmunology and Neuromuscular Disorders Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1097/NEN.0b013e3182084391DOI Listing
February 2011

Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy.

Neuromuscul Disord 2010 May 7;20(5):326-9. Epub 2010 Mar 7.

Neuromuscular Diseases and Neuroimmunology Unit, C. Besta National Neurological and Foundation, Via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2010.02.003DOI Listing
May 2010

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Am J Hum Genet 2010 Apr 1;86(4):639-49. Epub 2010 Apr 1.

Division of Molecular Neurogenetics, The Carlo Besta Neurological Institute Foundation, Istituto di Ricovero e Cura a Carattere Scientifico, via Temolo 4, 20126, Milan, Italy.

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http://dx.doi.org/10.1016/j.ajhg.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2850437PMC
April 2010

Altered production of extra-cellular matrix components by muscle-derived Duchenne muscular dystrophy fibroblasts before and after TGF-beta1 treatment.

Cell Tissue Res 2010 Feb 10;339(2):397-410. Epub 2009 Nov 10.

Neuromuscular Diseases and Neuroimmunology Unit, Foundation Neurological Institute "C. Besta", Milan, Italy.

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http://dx.doi.org/10.1007/s00441-009-0889-4DOI Listing
February 2010

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Muscle Nerve 2009 Jun;39(6):845-8

Division of Neuromuscular Diseases and Neuroimmunology, Muscle Cell Biology Laboratory, Foundation Neurological Institute C. Besta, Via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1002/mus.21271DOI Listing
June 2009

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.

Eur J Paediatr Neurol 2009 Jan 11;13(1):72-6. Epub 2008 Apr 11.

Division of Child Neuropsychiatry, ASL2-Martini Hospital, Turin, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2008.01.010DOI Listing
January 2009

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Hum Mol Genet 2009 Jan 24;18(1):12-26. Epub 2008 Sep 24.

Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddn309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2644642PMC
January 2009

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

Neuromuscul Disord 2008 Dec 5;18(12):962-6. Epub 2008 Nov 5.

Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C. Besta, Via Temolo 4, 20126 Milano, Italy.

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http://dx.doi.org/10.1016/j.nmd.2008.09.008DOI Listing
December 2008

The kinesin superfamily motor protein KIF4 is associated with immune cell activation in idiopathic inflammatory myopathies.

J Neuropathol Exp Neurol 2008 Jun;67(6):624-32

Neurology IV, Foundation Neurological Institute Carlo Besta, Department of Medical Pharmacology, Milan, Italy.

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http://dx.doi.org/10.1097/NEN.0b013e318177e5fdDOI Listing
June 2008

Severe congenital muscular dystrophy in a LAMA2-mutated case.

Pediatr Neurol 2007 Sep;37(3):212-4

Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico C. Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.05.008DOI Listing
September 2007

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay.

Neuromuscul Disord 2007 Feb 22;17(2):148-56. Epub 2007 Jan 22.

Laboratory of Clinical Neurogenetics and Muscular Disorders, Zagreb University School of Medicine, Croatian Institute for Brain Research, Salata 12, 10000 Zagreb, Croatia.

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http://dx.doi.org/10.1016/j.nmd.2006.11.001DOI Listing
February 2007

Proteoglycans are differentially altered in muscular dystrophies.

ScientificWorldJournal 2006 Apr 4;6:446-8. Epub 2006 Apr 4.

Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico C. Besta, Via Temolo 4, 20126 Milan, Italy.

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http://dx.doi.org/10.1100/tsw.2006.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917414PMC
April 2006

Reliability of translated measures assessing dating violence among Mexican adolescents.

Violence Vict 2006 Feb;21(1):117-27

Child and Family Development Department, San Diego State University, CA 92182-4502, USA.

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February 2006

Decorin and biglycan expression is differentially altered in several muscular dystrophies.

Brain 2005 Nov 23;128(Pt 11):2546-55. Epub 2005 Sep 23.

Division of Neuromuscular Diseases and Neuroimmunology, Istituto Nazionale Neurologico "C. Besta", Milano, Italy.

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http://dx.doi.org/10.1093/brain/awh635DOI Listing
November 2005

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Neuromuscul Disord 2004 Dec;14(12):815-7

Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute C. Besta, via Temolo 4, 21033 Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2004.09.002DOI Listing
December 2004

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene.

Neuromuscul Disord 2004 Nov;14(11):723-6

Unit of Neurology, Public Health Hospital, Melegnano (Milan), Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S096089660400198
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http://dx.doi.org/10.1016/j.nmd.2004.07.002DOI Listing
November 2004

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.

Ann Neurol 2004 Jul;56(1):133-8

Division of Neuromuscular Diseases, National Neurological Institute C. Besta, Milan, Italy.

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http://dx.doi.org/10.1002/ana.20158DOI Listing
July 2004

Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study.

J Neuroimmunol 2003 Sep;142(1-2):130-6

Department of Neuromuscular Diseases, Istituto Nazionale Neurologico Carlo Besta, via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1016/s0165-5728(03)00255-8DOI Listing
September 2003