Maurizio Moggio

Maurizio Moggio

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Maurizio Moggio

Publications by authors named "Maurizio Moggio"

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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

Immune-mediated necrotizing myopathy due to statins exposure.

Acta Myol 2018 Dec 1;37(4):257-262. Epub 2018 Dec 1.

Neuroradiology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416701PMC
December 2018

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice.

Biochim Biophys Acta Mol Basis Dis 2018 10 1;1864(10):3407-3417. Epub 2018 Aug 1.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; University of Milan, Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Milan, Italy.

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http://dx.doi.org/10.1016/j.bbadis.2018.07.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134197PMC
October 2018

The clinical spectrum of -related myopathy.

Neurology 2018 10 26;91(17):e1629-e1641. Epub 2018 Sep 26.

From the Neuromuscular Center (C.S., C.B., L.B., B.P., F.G., S.V., B.F.G., G.S., E.P.), Department of Neurosciences, and Departments of Cardiac, Thoracic and Vascular Sciences (M.P., C.C.), Biomedical Sciences (G.M., S.C.E.T.), and Medicine (R.S.), Section of Radiology, University of Padova, Italy; Dubowitz Neuromuscular Centre (Developmental Neuroscience Programme) (F.C.), UCL Great Ormond Street Institute of Child Health, University College London, UK; Neuromuscular and Rare Disease Unit (I.C., M.M.), Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan; Department of Biomedical and Neuromotor Sciences (G.C., V.P.), University of Bologna; and CNR Institute of Neuroscience (S.C.E.T.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000006387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205688PMC
October 2018

Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.

J Neurosci Res 2018 09;96(9):1576-1585

Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1002/jnr.24263DOI Listing
September 2018

A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.

Neuromuscul Disord 2018 06 13;28(6):532-537. Epub 2018 Apr 13.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.04.006DOI Listing
June 2018

Rhabdomyolysis-Associated Acute Kidney Injury.

Am J Kidney Dis 2018 06;71(6):A12-A14

Department of Nephrology, Dialysis and Transplantation, Fondazione IRCCS Policlinico San Matteo and University of Pavia, Pavia, Italy.

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http://dx.doi.org/10.1053/j.ajkd.2018.03.009DOI Listing
June 2018

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Brain 2018 01;141(1):e4

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

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http://dx.doi.org/10.1093/brain/awx302DOI Listing
January 2018

Nutritional Challenges in Duchenne Muscular Dystrophy.

Nutrients 2017 Jun 10;9(6). Epub 2017 Jun 10.

Pediatric Clinic, Università degli Studi di Perugia, 06129 Perugia, Italy.

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http://dx.doi.org/10.3390/nu9060594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490573PMC
June 2017

A case report with the peculiar concomitance of 2 different genetic syndromes.

Medicine (Baltimore) 2016 Dec;95(49):e5567

aNeuromuscular and Rare Disease Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan bAzienda Ospedaliera di Desio e Vimercate, Neurology Unit, Desio cPediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico dDino Ferrari Centre, Department of Pathophysiology and Transplantation Neuroscience Section (DEPT), Neurology Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1097/MD.0000000000005567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266037PMC
December 2016

Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation.

Cell Rep 2016 12;17(11):3010-3023

Department of Biomedical and Clinical Sciences, Unit of Clinical Pharmacology, University Hospital "Luigi Sacco"-ASST Fatebenefratelli Sacco, National Research Council-Institute of Neuroscience, Università degli Studi di Milano, 20157 Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.11.044DOI Listing
December 2016

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

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.

Cancer Res Treat 2016 Oct 25;48(4):1438-1442. Epub 2016 Mar 25.

Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.

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http://dx.doi.org/10.4143/crt.2015.450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080814PMC
October 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

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Acta Neuropathol Commun 2016 05 5;4(1):47. Epub 2016 May 5.

Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Via Zucchi, 18, Cusano Milanino, 20095, MI, Italy.

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http://dx.doi.org/10.1186/s40478-016-0316-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858818PMC
May 2016

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

Muscle Nerve 2016 Feb 26;53(2):326-7. Epub 2015 Nov 26.

Neuroradiology Department, C. Mondino National Neurological Institute, Pavia, Italy.

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http://dx.doi.org/10.1002/mus.24936DOI Listing
February 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

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

BMC Neurol 2015 Sep 24;15:172. Epub 2015 Sep 24.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Foundation Cà Granda, Ospedale Maggiore Policlinico, via F. Sforza 35, 20122, Milan, Italy.

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http://dx.doi.org/10.1186/s12883-015-0428-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582941PMC
September 2015

Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone.

Muscle Nerve 2015 Jun 5;51(6):934-5. Epub 2015 Jan 5.

Department of Neurosciences, A.O.U. Policlinico "G. Martino,", Messina, Italy.

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http://dx.doi.org/10.1002/mus.24545DOI Listing
June 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

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

Glycogen storage disease type III: A novel Agl knockout mouse model.

Biochim Biophys Acta 2014 Nov 1;1842(11):2318-28. Epub 2014 Aug 1.

Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.07.029DOI Listing
November 2014

Mitochondrial disease heterogeneity: a prognostic challenge.

Acta Myol 2014 Oct;33(2):86-93

UOD Malattie Neuromuscolari e Rare, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299169PMC
October 2014

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Neurology 2014 Jun 14;82(23):2072-6. Epub 2014 May 14.

From the IRCCS National Institute of Neurology C. Mondino Foundation (A.C., G.P., C.A.G., E.M., C.C., G. Grieco, I.R., A.M.), Pavia, Italy; Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases (A.T., A.P., J.H.), and Department of Neurodegenerative Disease (P.F.), UCL Institute of Neurology, London, UK; Neuromuscular Unit (P.C., L.N., V.L., M.R., R.V., G.F., M.M.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Dino Ferrari Centre, Università di Milano, Italy; Neurology Unit (G. Grampa), Saronno Hospital, Italy; MRC Laboratory for Molecular Cell Biology (S.E.M.), Department of Genetics, Evolution and Environment, and UCL Institute of Child Health, University College London, UK; and Department of Neurological Sciences (A.M.), University of Pavia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000000490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118497PMC
June 2014

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

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

J Neurol Sci 2012 Apr 22;315(1-2):146-9. Epub 2011 Dec 22.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1016/j.jns.2011.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315002PMC
April 2012

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Eur J Hum Genet 2012 Mar 21;20(3):357-60. Epub 2011 Dec 21.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2011.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283170PMC
March 2012

Impaired expression of insulin-like growth factor-1 system in skeletal muscle of amyotrophic lateral sclerosis patients.

Muscle Nerve 2012 Feb;45(2):200-8

Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center, IRCCS Istituto Auxologico Italiano, Università degli Studi di Milano, Milano, Italy.

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http://dx.doi.org/10.1002/mus.22288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306791PMC
February 2012

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.

J Neurol 2011 Sep 12;258(9):1610-23. Epub 2011 Mar 12.

Department of Neurological Sciences, Dino Ferrari Centre, University of Milan, I.R.C.C.S. Foundation Ca' Granda, Ospedale Maggiore Policlinico, Padiglione Ponti, Via Francesco Sforza 35, 20122 Milan, Italy.

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http://dx.doi.org/10.1007/s00415-011-5979-zDOI Listing
September 2011

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Biochem Biophys Res Commun 2011 Aug 27;412(2):245-8. Epub 2011 Jul 27.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1016/j.bbrc.2011.07.076DOI Listing
August 2011

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.

Case Rep Neurol 2011 Feb 23;3(1):62-8. Epub 2011 Feb 23.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1159/000324925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072196PMC
February 2011

Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.

Mov Disord 2011 Jan 7;26(1):130-7. Epub 2010 Oct 7.

Department of Neurology, Centro Dino Ferrari Università degli Studi di Milano-IRCCS Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1002/mds.23258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081141PMC
January 2011

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

Arch Neurol 2010 Jul;67(7):849-54

Department of Neurological Sciences, "Dino Ferrari" Center, Università degli Studi di Milano, Scientific Institute for Research and Treatment Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://dx.doi.org/10.1001/archneurol.2010.128DOI Listing
July 2010

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment.

J Neurol Sci 2010 May 18;292(1-2):107-10. Epub 2010 Feb 18.

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X1000056
Publisher Site
http://dx.doi.org/10.1016/j.jns.2010.01.026DOI Listing
May 2010