Elena Pegoraro

Elena Pegoraro

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Elena Pegoraro

Elena Pegoraro

Publications by authors named "Elena Pegoraro"

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Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM).

Cortex 2020 Feb 19;127:58-66. Epub 2020 Feb 19.

Department of Neurosciences (Padova Neuroscience Center), Università degli Studi di Padova, Italy; IRCCS San Camillo Hospital, Venice, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2020.02.005DOI Listing
February 2020

Cored in the act: the use of models to understand core myopathies.

Dis Model Mech 2019 12 19;12(12). Epub 2019 Dec 19.

Department of Neuroscience, University of Padua, Padua 35128, Italy

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http://dx.doi.org/10.1242/dmm.041368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6955215PMC
December 2019

Teaching an Old Molecule New Tricks: Drug Repositioning for Duchenne Muscular Dystrophy.

Int J Mol Sci 2019 Nov 30;20(23). Epub 2019 Nov 30.

Department of Biomedical Sciences and Interuniversity Institute of Myology (IIM), University of Padova, via U. Bassi 58/B, 35131 Padua, Italy.

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http://dx.doi.org/10.3390/ijms20236053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929176PMC
November 2019

Safety and efficacy of edaravone compared to historical controls in patients with amyotrophic lateral sclerosis from North-Eastern Italy.

J Neurol Sci 2019 Sep 6;404:47-51. Epub 2019 Jun 6.

Neuromuscular Center, Department of Neurosciences, University of Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.06.006DOI Listing
September 2019

Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA.

Neurol Sci 2019 Jul 26;40(7):1393-1401. Epub 2019 Mar 26.

Neuromuscular Center, Department of Neurosciences, University of Padova, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-019-03850-2DOI Listing
July 2019

FSHD1 and FSHD2 form a disease continuum.

Neurology 2019 05 12;92(19):e2273-e2285. Epub 2019 Apr 12.

From the Peripheral Nervous System (S.S., M.G., C.C., A.P.), Muscle & ALS Department, Pasteur 2 Hospital, Centre Hospitalier Universitaire de Nice, and Institute for Research on Cancer and Aging of Nice (S.S., C.B., N.L., P.N., G.C.), CNRS, INSERM, Université Côte d'Azur; Department of Genetics and Molecular Biology (A.B.-S., S.R., M.J.), Cochin Hospital, Paris, France; Department of Human Genetics (R.J.L.F.L., S.M.v.d.M.), Leiden University Medical Center, the Netherlands; Rare Neuromuscular Diseases Centre (C.C.), Department of Human Neuroscience, Sapienza University of Rome, Italy; Pathology Department (F.C.), CHRU of Caen, INSERM U1075, University of Caen, Normandy; Myology Institute (T.S., A.B., B.E.), Center of Research in Myology, APHP, Sorbonne Université, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris; Electromyography and Neuromuscular Department (C.V., F.B., P.P.), Neurologic Hospital, Lyon East Hospital Group, Lyon-Bron, France; Neuromuscular Center, Department of Neuroscience (M.C., E.P.), and Clinical Genetics Unit, Department of Women's and Children's Health (L.S.), University of Padova, Italy; Institut Imagine, Imagine Bioinfomatics Platform (M.B.), Paris Descartes University; Département de Neurologie (A.E.-L.), Hôpitaux Universitaires, Strasbourg; Nord/Est/Ile de France Neuromuscular Center (P.L.), Neurology Department, Raymond Poincaré Teaching Hospital, Garches; INSERM U1179 (P.L.), END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France; and IRP Città della Speranza (L.S.), Padova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000007456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537132PMC
May 2019

The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy.

J Clin Med 2019 May 10;8(5). Epub 2019 May 10.

Department of Neurosciences, University of Padova, 35128 Padova, Italy.

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http://dx.doi.org/10.3390/jcm8050649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6571893PMC
May 2019

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Neurology 2019 Jan 9. Epub 2019 Jan 9.

From the John Walton Muscular Dystrophy Research Centre (U.M., M.K.J., A.G.M., R.F.-T., M.E., K.B., R.M.L., H.H., H.L., K.B., V.S.), Newcastle University and Newcastle Hospitals NHS Foundation Trust, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Central Parkway, Newcastle Upon Tyne, UK; Center for Translational Science (M.J., J.F., A. Cnaan), Division of Biostatistics and Study Methodology, Cooperative International Neuromuscular Research Group (T.D., B.D.), and Department of Neurology (D.X.B.-G.), Children's National Health System; Pediatrics, Epidemiology and Biostatistics (M.J., A. Cnaan), George Washington University, Washington, DC; Neuromuscular Area (R.F.-T.), Biodonostia Health Research Institute, Neurology Service, Donostia University Hospital, Donostia-San Sebastian, Spain; Jain Foundation (L.E.R., P.M.), Seattle, WA; Magnetic Resonance Centre (A.M.B.), Institute of Cellular Medicine, Newcastle University, Newcastle Upon Tyne, UK; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83, Paris, France; Research Institute at Nationwide Children's Hospital (L.P.L., L.A., K.M.B., J.R.M.), The Ohio State University, Columbus; Institute for Neuroscience and Muscle Research (K.R., M. Hutchence, K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Lucile Salter Packard Children's Hospital at Stanford (T.D.), 24349, Neurology, Palo Alto, CA; Physical Medicine and Rehabilitation (E.M.-M., I.P.-H.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Neuroscience Institute (S.H., M.S., E.B., S. Sparks), Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC; Department of Physical Rehabilitation (A.A., C. Sakamoto, T.T., H.Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Institut de Myologie (A. Canal, G.O., V.D., J.-Y.H., T.S.), AP-HP, GH Pitié-Salpêtrière, Paris, France; Neurorehabilitation Unit (J.B.M.), Rehabilitation Hospital Universitario Virgen del Rocío Sevilla; Neurophysiotherapy Department (N.S.-A.P.), Hospital Universitario Virgen del Rocío, Seville, Spain; Friedrich-Baur-Institute (S. Thiele, S.K., O.S.-K. M.C.W.), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Neurology (C. Siener, J.S., J.M.F., M. Harms, A.P.), Washington University School of Medicine, St. Louis, MO; Centre de Reference des Maladies Neuromusculaires PACA Réunion Rhone Alpes (B.V., E.S.-C.), Hopital de la Timone, Aix-Marseille Université, France; ELAN-PHYSIO (J.P., E.M.), Praxis für Physiotherapie Maron; Charite Muscle Research Unit (U.G., S. Spuler), Experimental and Clinical Research Center, a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Department of Neurology and Neurological Sciences (C.T.R., J.W.D.), Stanford University School of Medicine, CA; NIH (D.X.B.-G.), Bethesda, MD; Neuromuscular Unit (C.P.), Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Spain; Department of Neurology (S. Takeda, M.M.-Y.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Centro de Investigación Biomédica en Red en Enfermedades Raras (J.D.-M.); Neuromuscular Disorders Unit (J.D.-M.), Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; and Department of Neuroscience (L.B., C. Semplicini, E.P.), University of Padova, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006858DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369904PMC
January 2019

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

Collagen VI is required for the structural and functional integrity of the neuromuscular junction.

Acta Neuropathol 2018 09 11;136(3):483-499. Epub 2018 May 11.

Department of Molecular Medicine, University of Padova, Via Ugo Bassi 58/B, 35131, Padua, Italy.

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http://dx.doi.org/10.1007/s00401-018-1860-9DOI Listing
September 2018

Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function.

Cell Rep 2017 Aug;20(9):2100-2115

Department of Biomedical, Metabolic and Neuronal Sciences, University of Modena and Reggio Emilia, and Center for Neuroscience and Neurotechnology, 41125 Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2017.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583511PMC
August 2017

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France.

Neuromuscul Disord 2017 07 3;27(7):683-692. Epub 2017 Mar 3.

Généthon, INSERM, U951, INTEGRARE Research Unit, Evry F-91002, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.02.011DOI Listing
July 2017

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Nat Commun 2017 01 31;8:14143. Epub 2017 Jan 31.

Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, New South Wales 2145, Australia.

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http://dx.doi.org/10.1038/ncomms14143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290331PMC
January 2017

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy.

Acta Myol 2016 Dec;35(3):122-127

Department of Neurosciences, University of Padova, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5416739PMC
December 2016

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Neurol Sci 2016 Nov 21;37(11):1815-1821. Epub 2016 Jul 21.

Department of Neurosciences, Neuromuscular Center, University of Padova, Via Giustiniani 5, 35128, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-016-2666-yDOI Listing
November 2016

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

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Neurol Genet 2016 Aug 4;2(4):e89. Epub 2016 Aug 4.

The John Walton Muscular Dystrophy Research Centre (E.H., C.L.B., A.M., M.J., K. Bettinson, U.M., M.E., H.L., V.S., K. Bushby), Institute of Genetic Medicine, Newcastle upon Tyne, UK; Magnetic Resonance Centre (F.E.S., A.M.B.), Institute for Cellular Medicine, Newcastle University, UK; Jain Foundation, Inc. (L.R.), Seattle, WA; Division of Biostatistics and Study Methodology (A.C.), Center for Translational Science, Children's National Health System, Washington, DC; Department of Pediatrics, Epidemiology and Biostatistics (A.C.), George Washington University; Department of Neurology (D.X.B.-G.), Children's National Health System, Washington, DC; National Institutes of Health (NINDS) (D.X.B.-G.), Bethesda, MD; Carolinas Healthcare System Neurosciences Institute (E.B.), Charlotte; AIM & CEA NMR Laboratory (P.G.C.), Institute of Myology, Pitié-Salpêtrière University Hospital, Paris, France; Stanford University School of Medicine (J.W.D., C.T.R.), CA; Neuromuscular Disorders Unit (J.D.-M.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Barcelona, Spain; Muscle Research Unit (U.G., S.S.), Experimental and Clinical Research Center, A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany; Washington University (M.H., A.P.), St. Louis, MO; Institute for Neuroscience and Muscle Research (K.J.J.), Children's Hospital at Westmead, University of Sydney, Australia; Nationwide Children's Hospital (J.R.M.), Columbus, OH; Department of Neurology (M.M.-Y., S.T.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; Neuromuscular Unit, Department of Neurology (C.P.), Hospital U. Virgen del Rocío, Instituto de Biomedicina de Sevilla, Spain; Department of Neuroscience (E.P., C.S.), University of Padova, Italy; Neuromuscular and ALS Center (E.S.-C.), La Timone Hospital

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http://dx.doi.org/10.1212/NXG.0000000000000089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4994875PMC
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

Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts.

Exp Cell Res 2016 Mar 19;342(1):39-51. Epub 2016 Feb 19.

Department of Biomedicine and Prevention, Tor Vergata University of Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2016.02.013DOI Listing
March 2016

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity.

Neurodegener Dis 2015 17;15(2):114-20. Epub 2015 Mar 17.

Department of Neurosciences, University of Padova, Padova,Italy.

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http://dx.doi.org/10.1159/000375307DOI Listing
January 2016

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance.

Pediatr Neurol 2015 May 7;52(5):548-51. Epub 2015 Feb 7.

Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.01.018DOI Listing
May 2015

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Ann Neurol 2015 Apr 13;77(4):684-96. Epub 2015 Mar 13.

Children's National Medical Center, Washington, DC; Department of Neuroscience (Neurological, Psychiatric, Sensory, Reconstructive, Rehabilitative Science), University of Padua, Padua, Italy.

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http://dx.doi.org/10.1002/ana.24370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403971PMC
April 2015

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Neurology 2015 Apr 10;84(17):1772-81. Epub 2015 Apr 10.

From the Neuromuscular Center (C.S., L.B., C.B., E.P.), Department of Neurosciences, University of Padova, Italy; the Neuromuscular Clinic and Research Unit (J.V., J.R.D., N.W.), Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark; Paris-Est Neuromuscular Center (T.S., B.E., P.L.), Institut of Myology, Pitié-Salpêtrière Hospital, Paris, France; the Department of Clinical Genetics (M.D.), University of Copenhagen, Rigshospitalet, Denmark; Laboratoire de Biochimie et Génétique Moléculaire (F.L.), Groupe Hospitalier Cochin, Paris, France; Cardiomyology and Medical Genetics (P.D., L.P.), Department of Experimental Medicine, Second University of Naples; and the IRCCS San Camillo (C.A.), Venezia, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000001519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424130PMC
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 mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

Hum Mutat 2014 Oct 10;35(10):1163-70. Epub 2014 Sep 10.

Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, 53100, Italy; IIM, Interuniversity Institute of Myology.

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http://dx.doi.org/10.1002/humu.22631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177304PMC
October 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

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Neurobiol Aging 2014 May 29;35(5):1212.e7-1212.e10. Epub 2013 Oct 29.

Laboratory of Human Genetics, Department of Biology, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.10.093DOI Listing
May 2014

"Hospital at home" for neuromuscular disease patients with respiratory tract infection: a pilot study.

Respir Care 2013 Dec 21;58(12):2061-8. Epub 2013 May 21.

Department of Respiratory Pathophysiology and the Intensive Care Unit, City Hospital of Padova, Padova, Italy.

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http://dx.doi.org/10.4187/respcare.02501DOI Listing
December 2013