Eduard Gallardo

Eduard Gallardo

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Eduard Gallardo

Eduard Gallardo

Publications by authors named "Eduard Gallardo"

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Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.

Neurol Neuroimmunol Neuroinflamm 2020 May 6;7(3). Epub 2020 Mar 6.

From the Neuromuscular Diseases Unit (X.S.-C., J.A.-P., A.C.-R., E.F.-S., A.A.-J., R.R.-G., J.T., L.Q., N.d.L., E.C.-V., I.I., E.G., J.D.-M.), Neurology Department, Hospital de la Santa CreuiSant Pau and Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona; Centro de Investigaciones Biomédicas en Red en Enfermedades Raras (CIBERER) (X.S.-C., R.R.-G., L.Q., N.d.L., E.C.-V., I.I., E.G., J.D.-M.), Madrid; John Walton Muscular Dystrophy Research Center (J.D.-M), University of Newcastle, UK; Rheumatology Unit (I.C., A.M.-n.-M., H.C.), Hospital de la Santa Creu i Sant Pau; Laboratory of Experimental Immunology (C.Z.), Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau (IIB Sant Pau); Servei Immunologia (L.M.-M.), Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau (IIB Sant Pau); and Department of Respiratory Medicine (D.C.), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1212/NXI.0000000000000694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136050PMC
May 2020

Clinical and therapeutic features of myasthenia gravis in adults based on age at onset.

Neurology 2020 Mar 18;94(11):e1171-e1180. Epub 2020 Feb 18.

From the Neuromuscular Diseases Unit, Department of Neurology (E.C.-V., R.Á.-V., R.R.-G., J.D.-M., L.Q., E.G., I.I.), Hospital de la Santa Creu i Sant Pau; Department of Medicine (E.C.-V., R.Á.-V., I.I.), Universitat Autònoma de Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (E.C.-V., R.Á.-V., S.S., C.C., T.S., R.R.-G., J.D.-M., L.Q., E.G., I.I.) and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (C.P., A.L.d.M., A.L.P.-N.), Instituto de Salud Carlos III, Madrid; Neurology Department (C.P., B.V.), Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla; Unitat de Neuromuscular (C.C., M.A.A.), Neurology Department, Hospital Universitari de Bellvitge-IDIBELL, l'Hospitalet de Llobregat, Barcelona; Neuromuscular Diseases Unit (A.-G.S., L.G.), Department of Neurology, Institute of Neurosciences, Hospital Universitario Clínico San Carlos, Madrid; Neurology Department (J.P., T.G.-S.), Hospital Clínico, Santiago de Compostela; Neuromuscular Diseases Unit (A.R.-F., A.M.-P.), Department of Neurology, Hospital Germans Trias i Pujol; Department of Medicine (A.R.-F.), Universitat Autònoma de Barcelona, Badalona; Neuromuscular Unit (T.S., A.L.-M.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Medicine (T.S.), Universitat de València; Neurology Department (A.L.d.M., A.F.-T.), Donostia University Hospital; Neurosciences Area (A.L.d.M.), Biodonostia Research Institute, University of the Basque Country, San Sebastián; Neurology Department (M.T.G.), Hospital Universitario Reina Sofía, Córdoba; Department of Neurology (I.J.), Complejo Hospitalario de Navarra, Pamplona; Neuromuscular Diseases Unit (G.G.-G.), Department of Neurology, Hospital Universitario Infanta Sofía, Universidad Europea de Madrid, San Sebastián de los Reyes, Madrid; Complejo asistencial hospitalario de Burgos (M.A.M.), Burgos; Hospital Universitario de Gran Canaria Doctor Negrín (M.D.M.), Las Palmas de Gran Canaria; Hospital Central de Asturias (G.M.), Oviedo; and Service of Neurology (A.L.P.-N., Á.C.-A.), University Hospital "Marqués de Valdecilla (IDIVAL)," University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000008903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220233PMC
March 2020

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading.

Neurology 2019 08 29;93(9):e889-e894. Epub 2019 Jul 29.

From Ghent University Hospital (P.A.O., B.D.P., R.C., J.L.D.B.), Belgium; Academic Medical Centre (E.A., F.B., M.d.V.), University of Amsterdam, the Netherlands; Harvard Medical School (A.A.), Boston, MA; CHU Henri Mondor (D.D.), Créteil, France; Hospital Santa Creu i Sant Pau (E.G.), Barcelona, Spain; Université Paris Est-Créteil (R.G.), France; Charité-Universitätsmedizin Berlin (H.-H.G., W.S.), Germany; John Radcliffe Hospital (D.H.-J.); Oxford University Hospitals (M.H.); UCL Institute of Neurology (J.H.), London, UK; Syddansk Universitet (H.d.S.), Odense, Denmark; and Mayo Clinic (D.S.), Rochester, MN.

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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.0000000000008005DOI Listing
August 2019

Identification of serum microRNAs as potential biomarkers in Pompe disease.

Ann Clin Transl Neurol 2019 07 12;6(7):1214-1224. Epub 2019 Jun 12.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/acn3.50800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649638PMC
July 2019

Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B.

Nat Commun 2019 06 3;10(1):2430. Epub 2019 Jun 3.

Research Center for Genetic Medicine, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USA.

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http://dx.doi.org/10.1038/s41467-019-10438-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547715PMC
June 2019

Identification and Characterization of New Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.

Front Genet 2019 14;10:576. Epub 2019 Jun 14.

Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.3389/fgene.2019.00576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588129PMC
June 2019

Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.

J Neurol Sci 2018 11 5;394:63-67. Epub 2018 Sep 5.

Department of Neurology, Neuromuscular Unit, 12 de Octubre University Hospital, Avda de Córdoba s/n, Madrid 28041, Spain; Research Institute of Hospital 12 de Octubre (i+12), Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183034
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http://dx.doi.org/10.1016/j.jns.2018.08.026DOI Listing
November 2018

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress.

Free Radic Biol Med 2018 10 20;126:235-248. Epub 2018 Aug 20.

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Hospital, 12 de Octubre (i+12), Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08915849183142
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http://dx.doi.org/10.1016/j.freeradbiomed.2018.08.020DOI Listing
October 2018

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases.

J Neuropathol Exp Neurol 2018 10;77(10):964-972

Department of Neuromuscular Diseases Laboratory, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain and Centro de Investigación Biomédica en Red sobre Enfermedades Raras.

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http://dx.doi.org/10.1093/jnen/nly078DOI Listing
October 2018

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.

Neuromuscul Disord 2018 08 13;28(8):633-638. Epub 2018 Jul 13.

Neuromuscular disorders Unit, Neurology Department, Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER CB06/05/0030), Universitat Autònoma de Barcelona, Hospital de la Santa Creu I Sant Pau, C/Sant Antoni Mª Claret 167, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.06.002DOI Listing
August 2018

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.

Sci Rep 2018 Jul 18;8(1):10898. Epub 2018 Jul 18.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1038/s41598-018-29170-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052002PMC
July 2018

JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis.

Brain 2018 06;141(6):1609-1621

Sorbonne Université, INSERM, Association Institut de Myologie, Center of Research in Myology, UMRS 974, AP-HP, Department of Internal Medicine and Clinical Immunology, DHU I2B, Pitié-Salpêtrière Hospital, F-75013, Paris, France.

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http://dx.doi.org/10.1093/brain/awy105DOI Listing
June 2018

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

Ann Clin Transl Neurol 2018 May 26;5(5):559-569. Epub 2018 Mar 26.

Neuromuscular Diseases Unit Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona Barcelona Spain.

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http://doi.wiley.com/10.1002/acn3.554
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http://dx.doi.org/10.1002/acn3.554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945957PMC
May 2018

Diagnostic utility of cortactin antibodies in myasthenia gravis.

Ann N Y Acad Sci 2018 01 25;1412(1):90-94. Epub 2017 Oct 25.

Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau - IIB Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/nyas.13502DOI Listing
January 2018

Mcleod syndrome is a new cause of axial muscle weakness.

Muscle Nerve 2018 Jan 30. Epub 2018 Jan 30.

Neurology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1002/mus.26086DOI Listing
January 2018

Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy.

Am J Pathol 2017 Aug 12;187(8):1814-1827. Epub 2017 Jun 12.

Neuromuscular Disorders Unit, Department of Neurology, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Network Research Center in Rare Diseases, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2017.04.011DOI Listing
August 2017

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

Sci Rep 2017 08 17;7(1):8595. Epub 2017 Aug 17.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau, (Barcelona) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Sant Pau, Spain.

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http://dx.doi.org/10.1038/s41598-017-09309-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561123PMC
August 2017

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.

Arthritis Res Ther 2017 07 24;19(1):174. Epub 2017 Jul 24.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau and Institut de Recerca Sant Pau, Universitat Autònoma de Barcelona, Sant Antoni Maria Claret 167, 08025, Barcelona, Spain.

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http://dx.doi.org/10.1186/s13075-017-1383-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525343PMC
July 2017

Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

JAMA Neurol 2016 09;73(9):1099-104

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain.

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http://dx.doi.org/10.1001/jamaneurol.2016.2032DOI Listing
September 2016

Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease.

Neurology 2016 06;86(24):e250-1

From the Unit of Neuromuscular Diseases (M.G., G.A.), Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, "Sapienza" University of Rome, Italy; Laboratori de Malalties Neuromusculars (J.D.-M., E.G.), Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona (UAB), Barcelona; and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (J.D.-M., E.G.), Madrid, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002772DOI Listing
June 2016

Comment to "Role of Toll-like receptors and retinoic acid inducible gene I in endogenous production of type I interferon in dermatomyositis".

J Neuroimmunol 2016 Feb 18;291:125. Epub 2015 Dec 18.

Neuromuscular Diseases Unit, Neurology Department, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Institut de Recerca Sant Pau, Barcelona, Spain; Center for Biomedical Research Network in Rare Diseases (CIBERER - ISCIII), Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2015.12.008DOI Listing
February 2016

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.

Neuromuscul Disord 2016 Jan 22;26(1):33-40. Epub 2015 Oct 22.

Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.

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http://dx.doi.org/10.1016/j.nmd.2015.10.001DOI Listing
January 2016

Muscle MRI in muscular dystrophies.

Acta Myol 2015 Dec;34(2-3):95-108

Neuromuscular Disorders Unit, Neurology Department, Hospital Universitari de la Santa Creu i Sant Pau, Barcelona;; Centro de Investigación Básica en Enfermedades Raras (CIBERER);

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859076PMC
December 2015

[Dysferlinopathy masquerading as a refractory polymyositis].

Med Clin (Barc) 2015 Nov 7;145(9):414-5. Epub 2015 Feb 7.

Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Universitat de Barcelona, Fundación Cellex, Barcelona, España.

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http://dx.doi.org/10.1016/j.medcli.2014.12.009DOI Listing
November 2015

Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.

Neurol Neuroimmunol Neuroinflamm 2015 Oct 3;2(5):e149. Epub 2015 Sep 3.

Neuromuscular Diseases Unit (L.Q., R.R.-G., J.D.-M., E.G., I.I.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (L.Q., R.R.-G., J.D.-M., E.G., I.I.), CIBERER, Madrid, Spain; Neurology Department (J.B.), Hospital Universitario de Cruces, Universidad del País Vasco, Spain; Department of Neurology (J.P.), Hospital Clínico de Santiago, Santiago de Compostela, Spain; Department of Neurology (A.O.-M., A.C.), Hospital Virgen de las Nieves, Granada, Spain; Department of Neurology (M.J.S.), University Hospital "Marqués de Valdecilla" (IFIMAV) and University of Cantabria, Santander, Spain; Department of Neurology (L.S.-B.), Hospital Univeristari Vall d'Hebrón, Universitat Autònoma de Barcelona, Barcelona, Spain; and Department of Neurology (UHN) (N.O.), Hospital Universitari Sant Joan, Universitat Rovira i Virgili, Reus, Spain.

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http://dx.doi.org/10.1212/NXI.0000000000000149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561230PMC
October 2015

Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice.

J Neurol Sci 2015 Sep 24;356(1-2):157-62. Epub 2015 Jun 24.

Research Center for Genetic Medicine, Children's National Medical Center, 111 Michigan Ave NW, Washington, D.C., USA; Department of Integrative Systems Biology, Institute for Biomedical Sciences, The George Washington University, 2300 Eye Street, N.W., Ross 605, Washington, D.C., USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2015.06.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4545396PMC
September 2015

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

Neurology 2015 Jun 6;84(22):2286-8. Epub 2015 May 6.

From the Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (Y.C., L.C.-G., M.J.M., R.M., E.G.-A.) and Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP (E.G., J.D.-M.), Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER) (Y.C., L.C.-G., M.A.M., M.J.M., A.B., A.D., G.G., C.M., J.D.-M., E.G., B.B., E.L.-G., R.M., E.G.-A.), Instituto de Salud Carlos III, Madrid, Spain; Laboratorio de Enfermedades Mitocondriales, (M.A.M., A.B., A.D.) and Sección de Neuropatología (A.H.-L.), Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; Muscle Research and Mitochondrial Function Laboratory, Cellex-IDIBAPS, Faculty of Medicine (G.G., C.M.), Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain; Biochemistry Unit (B.B.), Hospital Universitario Puerta de Hierro, Madrid, Spain; Departamento de Bioquímica, Biologa Molecular y Celular (E.L.-G.), Universidad de Zaragoza, Zaragoza, Spain; Servicio de Anatomía Patológica (B.S.M.), Complejo Hospitalario Universitario de Vigo, Vigo, Spain; Servicio de Neurología (E.C.), Hospital Don Benito Villanueva, Badajoz, Badajoz, Spain; Servicio de Neurología (J.S.R.-V.), Hospital Universitario de Burgos, Burgos, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000001644DOI Listing
June 2015

Analysis of serum miRNA profiles of myasthenia gravis patients.

PLoS One 2014 17;9(3):e91927. Epub 2014 Mar 17.

Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; CIBER de enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0091927PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3956820PMC
January 2015

Cortactin autoantibodies in myasthenia gravis.

Autoimmun Rev 2014 Oct 3;13(10):1003-7. Epub 2014 Sep 3.

Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.autrev.2014.08.039DOI Listing
October 2014

Genetic and epigenetic determinants of low dysferlin expression in monocytes.

Hum Mutat 2014 Aug 24;35(8):990-7. Epub 2014 Jun 24.

Laboratori de Malalties Neuromusculars, Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/humu.22591DOI Listing
August 2014

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

J Hum Genet 2014 Aug 22;59(8):465-6. Epub 2014 May 22.

1] Neurology Department, Hospital de la Santa Creu I Sant Pau de Barcelona, Universitat Autònoma de Barcelona, Barcelona, Spain [2] Centro de Investigación Básica en Red en Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.

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http://dx.doi.org/10.1038/jhg.2014.43DOI Listing
August 2014

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

J Pathol 2014 Jul 29;233(3):258-68. Epub 2014 Apr 29.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Institut de Recerca Sant Pau, Barcelona, Spain; Centro Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/path.4346DOI Listing
July 2014

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.

Neurology 2014 Mar 12;82(10):879-86. Epub 2014 Feb 12.

From the Neuromuscular Diseases Unit (L.Q., G.N.-G., R.R.-G., J.D.-M., E.G., R.B., I.I.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Centro para la Investigación Biomédica en Red en Enfermedades Neurodegenerativas (L.Q., G.N.-G., R.R.-G., J.D.-M., M.J.S., E.G., J.B., I.I.), CIBERNED, Madrid; Department of Neurology (J.P.), Hospital Clínico de Santiago, Santiago de Compostela; Department of Neurology (A.O.-M.), Hospital Virgen de las Nieves, Granada; Department of Neurology (M.J.S., J.B.), University Hospital Marqués de Valdecilla (IFIMAV) and University of Cantabria; Department of Neurology (J.D.), Hospital Clinic, Universitat de Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona; and Institució Catalana de Recerca i Estudis Avançats (J.D.), Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959751PMC
March 2014

Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.

Stem Cells Dev 2013 Nov 26;22(21):2885-94. Epub 2013 Jul 26.

1 Laboratori de Malalties Neuromusculars, Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona (UAB) , Barcelona, Spain .

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http://dx.doi.org/10.1089/scd.2013.0049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3804083PMC
November 2013

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Int J Biochem Cell Biol 2013 Aug 19;45(8):1927-38. Epub 2013 Jun 19.

Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.biocel.2013.06.007DOI Listing
August 2013

Paraproteinemic neuropathies.

Presse Med 2013 Jun 22;42(6 Pt 2):e225-34. Epub 2013 Apr 22.

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.lpm.2013.02.329DOI Listing
June 2013

Dysferlin regulates cell adhesion in human monocytes.

J Biol Chem 2013 May 4;288(20):14147-57. Epub 2013 Apr 4.

Departments of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M112.448589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656271PMC
May 2013

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.

Neuromuscul Disord 2013 Apr 31;23(4):330-6. Epub 2013 Jan 31.

Departament de Patología Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2013.01.001DOI Listing
April 2013

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.

Ann Neurol 2013 Mar 31;73(3):370-80. Epub 2012 Dec 31.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ana.23794DOI Listing
March 2013

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.

J Pathol 2012 Dec 5;228(4):544-53. Epub 2012 Oct 5.

Neuromuscular Disorders Unit, Neurology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/path.4083DOI Listing
December 2012

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

Mol Ther 2012 Oct 21;20(10):1988-97. Epub 2012 Aug 21.

Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S152500161632195
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http://dx.doi.org/10.1038/mt.2012.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464637PMC
October 2012

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

PLoS One 2011 16;6(12):e29061. Epub 2011 Dec 16.

Servei de Neurologia, Laboratori de Malalties Neuromusculars, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029061PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3241698PMC
August 2012

Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.

J Peripher Nerv Syst 2012 Jun;17(2):158-68

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00407.xDOI Listing
June 2012

Limb-girdle muscular dystrophy 2A.

Handb Clin Neurol 2011 ;101:97-110

Department of Neurology and Laboratory of Experimental Neurology, Hospital de la Santa Creu i Sant Pau and Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

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http://dx.doi.org/10.1016/B978-0-08-045031-5.00006-2DOI Listing
July 2011

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

Mitochondrion 2011 Jan 8;11(1):228-33. Epub 2010 Sep 8.

Unitat de Patologia Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2010.08.008DOI Listing
January 2011

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.

J Neurol Neurosurg Psychiatry 2010 Jun 2;81(6):623-8. Epub 2009 Sep 2.

Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1136/jnnp.2009.183517DOI Listing
June 2010

Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.

J Neuropathol Exp Neurol 2010 Jun;69(6):643-53

Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.

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http://dx.doi.org/10.1097/NEN.0b013e3181e0d01cDOI Listing
June 2010

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.

Proteomics Clin Appl 2009 Apr 9;3(4):486-97. Epub 2009 Mar 9.

Laboratory of Experimental Neurology, Institut de Recerca HSCSP, Universitat Autònoma de Barcelona, Barcelona, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/prca.200800087DOI Listing
April 2009

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient.

Muscle Nerve 2009 Mar;39(3):386-8

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Avenue Sant Antoni Maria Claret 167, Barcelona 08025, Spain.

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http://dx.doi.org/10.1002/mus.21171DOI Listing
March 2009

Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients.

J Neuroimmunol 2008 Sep 23;201-202:90-4. Epub 2008 Jul 23.

Department of Neurology, Neuromuscular Unit, Hospital Santa Creu i Sant Pau, Universitat Autònoma Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jneuroim.2008.04.039DOI Listing
September 2008

Chronic sensorimotor polyradiculopathy with antibodies to P2: an electrophysiological and immunoproteomic analysis.

Muscle Nerve 2008 Jul;38(1):933-8

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Avenue Sant Antoni Maria Claret 167, Barcelona, Spain.

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http://dx.doi.org/10.1002/mus.20999DOI Listing
July 2008

Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome.

Nat Clin Pract Neurol 2007 Jul;3(7):405-10

Neuromuscular Diseases Section, Department of Neurology, at Hospital de la Santa Creu i Sant Pau in Barcelona, Spain.

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http://dx.doi.org/10.1038/ncpneuro0526DOI Listing
July 2007

A novel antiganglioside specificity against terminal NeuNAc(alfa 2-3)Gal in acute bulbar palsy.

J Neuroimmunol 2006 Jul 16;176(1-2):219-22. Epub 2006 May 16.

Department of Neurology, Hospital de la Sta. Creu i St. Pau and Institut de Recerca HSCSP, Universitat Autònoma de Barcelona, Barcelona, Sant Antoni Maria Claret 167 08025, Spain.

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http://dx.doi.org/10.1016/j.jneuroim.2006.04.001DOI Listing
July 2006

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

J Biol Chem 2006 Jun 11;281(25):17092-8. Epub 2006 Apr 11.

Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.

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http://dx.doi.org/10.1074/jbc.M601885200DOI Listing
June 2006

Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency.

Neuromuscul Disord 2006 Mar 17;16(3):208-9. Epub 2006 Feb 17.

Internal Medicine Department Hospital General Vall, d'Hebron, Universitat Autonoma, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2006.01.005DOI Listing
March 2006

["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].

Med Clin (Barc) 2005 Jun;125(3):100-2

Unidad de Enfermedades Musculares, Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1157/13076937DOI Listing
June 2005

In vivo and in vitro dysferlin expression in human muscle satellite cells.

J Neuropathol Exp Neurol 2004 Oct;63(10):1104-13

Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://pdfs.journals.lww.com/jneuropath/2004/10000/In_Vivo_a
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http://jnen.oxfordjournals.org/content/jnen/63/10/1104.full.
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http://dx.doi.org/10.1093/jnen/63.10.1104DOI Listing
October 2004

Neuromuscular dysfunction in adult growth hormone deficiency.

Clin Endocrinol (Oxf) 2003 Oct;59(4):450-8

Department of Endocrinology, Hospital Sant Pau, Autonomous University of Barcelona, Spain.

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http://dx.doi.org/10.1046/j.1365-2265.2003.01866.xDOI Listing
October 2003

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy.

Ann Neurol 2002 01;51(1):129-33

Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 2129, USA.

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http://dx.doi.org/10.1002/ana.10080DOI Listing
January 2002