Lucia Morandi

Lucia Morandi

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Lucia Morandi

Lucia Morandi

Publications by authors named "Lucia Morandi"

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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

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

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

Cardiac autonomic control during sleep in patients with myotonic dystrophy type 1: the effects of comorbid obstructive sleep apnea.

Sleep Med 2017 Nov 5;39:32-37. Epub 2017 Sep 5.

Department of Internal Medicine, Fondazione IRCSS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.sleep.2017.07.023DOI Listing
November 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

Perceived efficacy of salbutamol by persons with spinal muscular atrophy: A mixed methods study.

Muscle Nerve 2016 11 15;54(5):843-849. Epub 2016 Jul 15.

Department of Neuroimmunology and Neuromuscular Diseases, SOD Day Hospital/Day Service, Neurological Institute C. Besta IRCCS Foundation, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1002/mus.25102DOI Listing
November 2016

Home-based aerobic exercise training improves skeletal muscle oxidative metabolism in patients with metabolic myopathies.

J Appl Physiol (1985) 2016 09 21;121(3):699-708. Epub 2016 Jul 21.

Institute of Molecular Bioimaging and Physiology, National Research Council, Segrate, Italy; Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

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http://dx.doi.org/10.1152/japplphysiol.00885.2015DOI Listing
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

Muscle MRI findings in facioscapulohumeral muscular dystrophy.

Eur Radiol 2016 Mar 27;26(3):693-705. Epub 2015 Jun 27.

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

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http://dx.doi.org/10.1007/s00330-015-3890-1DOI Listing
March 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

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Acta Myol 2015 Dec;34(2-3):109-15

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859077PMC
December 2015

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

Bone and Spinal Muscular Atrophy.

Bone 2015 Oct 5;79:116-20. Epub 2015 Jun 5.

Developmental Neurology Unit, Carlo Besta Neurological Institute Foundation, Milan, Italy.

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https://linkinghub.elsevier.com/retrieve/pii/S87563282150022
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http://dx.doi.org/10.1016/j.bone.2015.05.039DOI Listing
October 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

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 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

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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http://dx.doi.org/10.1212/WNL.0000000000000934DOI Listing
October 2014

The "second wind" in McArdle's disease patients during a second bout of constant work rate submaximal exercise.

J Appl Physiol (1985) 2014 May 20;116(9):1230-7. Epub 2014 Mar 20.

Institute of Bioimaging and Molecular Physiology, National Research Council, Segrate, Italy;

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http://dx.doi.org/10.1152/japplphysiol.01063.2013DOI 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

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene.

J Hum Genet 2013 Sep 6;58(9):581-7. Epub 2013 Jun 6.

Neurology IV-Neuromuscular Diseases and Neuroimmunology Unit, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1038/jhg.2013.58DOI Listing
September 2013

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

J Neurol 2013 Jun 29;260(6):1617-23. Epub 2013 Jan 29.

Unit of Neurology VIII, Fondazione IRCCS Istituto Neurologico C. Besta, via Celoria 11, 20133, Milan, Italy.

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http://link.springer.com/10.1007/s00415-013-6844-z
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http://dx.doi.org/10.1007/s00415-013-6844-zDOI Listing
June 2013

Complete stable remission and autoantibody specificity in myasthenia gravis.

Neurology 2013 Jan 19;80(2):188-95. Epub 2012 Dec 19.

Neurology IV, Neurological Institute Foundation Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1212/WNL.0b013e31827b907bDOI Listing
January 2013

Improved exercise tolerance after enzyme replacement therapy in Pompe disease.

Med Sci Sports Exerc 2012 May;44(5):771-5

Institute of Bioimaging and Molecular Physiology, CNR, Segrate, Milan, Italy.

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https://insights.ovid.com/crossref?an=00005768-201205000-000
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http://dx.doi.org/10.1249/MSS.0b013e31823e6579DOI Listing
May 2012

Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1.

Neuromuscul Disord 2012 Mar 3;22(3):219-24. Epub 2011 Dec 3.

Clinical Epileptology and Experimental Neurophysiology Unit, Neurological Institute Foundation Carlo Besta, Milan, Italy.

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http://dx.doi.org/10.1016/j.nmd.2011.08.010DOI Listing
March 2012

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

Reduced exercise capacity in early-stage amyotrophic lateral sclerosis: Role of skeletal muscle.

Amyotroph Lateral Scler 2012 Jan 11;13(1):87-94. Epub 2011 Aug 11.

Exercise Pathophysiology Laboratory, Cardiac Rehabilitation Division, Salvatore Maugeri Foundation, IRCCS, Veruno Scientific Institute, Veruno (NO), Italy.

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http://dx.doi.org/10.3109/17482968.2011.601463DOI Listing
January 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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http://linkinghub.elsevier.com/retrieve/pii/S096089661101313
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http://dx.doi.org/10.1016/j.nmd.2011.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3334271PMC
January 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

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

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation.

J Neurol Sci 2011 Jan 12;300(1-2):165-8. Epub 2010 Oct 12.

IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy.

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http://dx.doi.org/10.1016/j.jns.2010.09.022DOI Listing
January 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

Metabolic myopathies: functional evaluation by analysis of oxygen uptake kinetics.

Med Sci Sports Exerc 2009 Dec;41(12):2120-7

Department of Science and Biomedical Technologies, University of Udine, Udine, Italy.

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http://dx.doi.org/10.1249/MSS.0b013e3181aae96bDOI Listing
December 2009

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

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

Celiac disease presenting with motor neuropathy: effect of gluten free-diet.

Muscle Nerve 2007 May;35(5):675-7

Neuromuscular Diseases Unit, National Neurological Institute Carlo Besta, Via Celoria 11, 20133 Milan, Italy.

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http://dx.doi.org/10.1002/mus.20727DOI Listing
May 2007

Impaired oxygen extraction in metabolic myopathies: detection and quantification by near-infrared spectroscopy.

Muscle Nerve 2007 Apr;35(4):510-20

Department of Science and Biomedical Technologies, University of Milan, LITA-Via Fratelli Cervi 93, I-20090 Segrate, MI, Italy.

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http://dx.doi.org/10.1002/mus.20708DOI Listing
April 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

Proteomic investigation of the molecular pathophysiology of dysferlinopathy.

Proteomics 2006 Jan;6(1):379-85

Institute of Molecular Bioimaging and Physiology, CNR, Via Fratelli Cervo 93, I-20090 Segrate, Milan, Italy.

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http://dx.doi.org/10.1002/pmic.200500098DOI Listing
January 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

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

Motor function-muscle strength relationship in spinal muscular atrophy.

Muscle Nerve 2004 Apr;29(4):548-52

Neuromuscular Unit, Istituto Ortopedico Rizzoli, Via Pupilli 1, 40136 Bologna, Italy.

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http://dx.doi.org/10.1002/mus.20018DOI Listing
April 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

Myasthenia gravis (MG): epidemiological data and prognostic factors.

Ann N Y Acad Sci 2003 Sep;998:413-23

Immunology and Muscular Pathology Unit, National Neurological Institute Carlo Besta, 20133 Milan, Italy.

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http://dx.doi.org/10.1196/annals.1254.054DOI Listing
September 2003

Reliability of hand-held dynamometry in spinal muscular atrophy.

Muscle Nerve 2002 Jul;26(1):64-70

Neuromuscular Unit, Istituto Ortopedico Rizzoli, via Pupilli 1, 40136 Bologna, Italy.

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http://dx.doi.org/10.1002/mus.10166DOI Listing
July 2002

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

Neuromuscul Disord 2002 Jan;12(1):49-52

Division of Biochemistry and Genetics, National Neurological Institute C. Besta via Celoria, 11. 20133 Milan, Italy.

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http://dx.doi.org/10.1016/s0960-8966(01)00244-9DOI Listing
January 2002