Isabel Illa

Isabel Illa

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Isabel Illa

Isabel Illa

Publications by authors named "Isabel Illa"

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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

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies.

Neurology 2020 03 6;94(10):e1094-e1102. Epub 2020 Feb 6.

From the Neuromuscular Disorders Unit, Neurology Department (J.V.-D., J.A.-P., I.I., J.D.-M.), and Radiology Department (C.N.-P., J.L.), Hospital de la Santa Creu I Sant Pau, Barcelona, Spain; UOC di Neurologia (G.T.), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Copenhagen Neuromuscular Center, Department of Neurology (J.V.), Rigshospitalet, University of Copenhagen, Denmark; John Walton Muscular Dystrophy Research Centre (V.S., J.D.-M.), University of Newcastle, Newcastle Upon Tyne, UK; Hospital Universitario Donostia (R.F.-T.); and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (I.I., J.D.-M.), Madrid, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000009068DOI Listing
March 2020

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

Neurology 2020 03 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

Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.

Med Clin (Barc) 2020 02 26;154(3):80-85. Epub 2019 Jun 26.

Unidad de Patología Neuromuscular, Departamento de Neurología, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, España; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2019.03.036DOI Listing
February 2020

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

Anti-Neurofascin-155 IgG4 antibodies prevent paranodal complex formation in vivo.

J Clin Invest 2019 03 14;129(6):2222-2236. Epub 2019 Mar 14.

Aix Marseille Université, CNRS, CRN2M-UMR7286, Marseille, France.

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http://dx.doi.org/10.1172/JCI124694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6546478PMC
March 2019

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.

Dement Geriatr Cogn Disord 2018 8;45(3-4):220-231. Epub 2018 Jun 8.

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

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https://www.karger.com/Article/FullText/488528
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http://dx.doi.org/10.1159/000488528DOI Listing
November 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

Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.

Ann Clin Transl Neurol 2018 Apr 7;5(4):499-501. Epub 2018 Mar 7.

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/10.1002/acn3.539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899910PMC
April 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

ARTHUR ASBURY LECTURE: Chronic inflammatory demyelinating polyradiculoneuropathy: clinical aspects and new animal models of auto-immunity to nodal components.

Authors:
Isabel Illa

J Peripher Nerv Syst 2017 12 15;22(4):418-424. Epub 2017 Nov 15.

Unitat Neuromuscular Servei Neurología, Hospital Santa Creu i Sant Pau, Universitat Autònoma Barcelona, CIBERER, Barcelona, Spain.

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http://doi.wiley.com/10.1111/jns.12237
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http://dx.doi.org/10.1111/jns.12237DOI Listing
December 2017

Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.

Amyotroph Lateral Scler Frontotemporal Degener 2016 Oct - Nov;17(7-8):522-527. Epub 2016 May 25.

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

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http://dx.doi.org/10.1080/21678421.2016.1187175DOI Listing
October 2017

Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.

Nat Rev Neurol 2017 Sep 14;13(9):533-547. Epub 2017 Jul 14.

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Mas Casanovas 90, 08041 Barcelona, Spain.

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http://dx.doi.org/10.1038/nrneurol.2017.84DOI Listing
September 2017

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.

Amyotroph Lateral Scler Frontotemporal Degener 2017 08 25;18(5-6):333-340. Epub 2017 Apr 25.

a 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/10.1080/21678421.2017.1316408DOI Listing
August 2017

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

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

Amyloid 2016 23;23(1):64-5. Epub 2016 Jan 23.

b Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau , Universitat Autonoma de Barcelona, and Centro de Investigacion Biomedica en Red de Neurodegeneracion (CIBERNED) , Barcelona , Spain.

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http://dx.doi.org/10.3109/13506129.2015.1127223DOI Listing
December 2016

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

International consensus guidance for management of myasthenia gravis: Executive summary.

Neurology 2016 Jul 29;87(4):419-25. Epub 2016 Jun 29.

From the Department of Neurology (D.B.S., J.M.M.), Duke University Medical Center, Durham, NC; Department of Neurology (G.I.W.), University at Buffalo School of Medicine and Biomedical Sciences, State University of New York; Department of Neurology (M.B.), University of Miami, Miller School of Medicine, FL; Department of Neurology (A.E.), Catholic University, Rome, Italy; Department of Clinical Medicine (N.E.G.), University of Bergen, Norway; Department of Neurology (I.I.), Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; CIBERER U762 (I.I.), Barcelona, Spain; Departments of Pediatrics and Neurology (N.K.), Northwestern Feinberg School of Medicine, Chicago, IL; Neurologische Klinik (A.M.), Universitätsklinikum Erlangen; Hertie Institute for Clinical Research (A.M.), University of Tübingen, Germany; Department of Neurological Therapeutics (H.M.), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan; Department of Clinical Neurological Sciences (M.N.), Western University, London, Canada; Department of Clinical Neurology (J.P.), John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, UK; Department of Neurology (D.P.R.), University of California, Davis, CA; Department of Neurology (J.V.), Leiden University Medical Centre, Leiden, the Netherlands; and Department of Neurology, Beth Israel Deaconess Medical Center/Harvard Medical School (P.N.), Boston, MA.

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http://dx.doi.org/10.1212/WNL.0000000000002790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977114PMC
July 2016

Contactin-1 IgG4 antibodies cause paranode dismantling and conduction defects.

Brain 2016 06 26;139(Pt 6):1700-12. Epub 2016 Mar 26.

Aix-Marseille Université, CNRS, CRN2M-UMR7286, Marseille, France

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http://dx.doi.org/10.1093/brain/aww062DOI 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

Paranodal and other autoantibodies in chronic inflammatory neuropathies.

Curr Opin Neurol 2015 Oct;28(5):474-9

aNeuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain bCentro para la Investigación Biomédica en Red en Enfermedades Raras, CIBERER, Madrid, Spain.

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http://dx.doi.org/10.1097/WCO.0000000000000233DOI Listing
October 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

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

Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.

J Biol Chem 2014 Mar 4;289(11):7907-18. Epub 2014 Feb 4.

From Aix-Marseille Université, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille-UMR7286, 13344 Marseille, France.

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http://dx.doi.org/10.1074/jbc.M113.528489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953301PMC
March 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

Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.

Muscle Nerve 2013 Dec 11;48(6):870-6. Epub 2013 Sep 11.

Neuromuscular Diseases Department, Hospital de la Santa Creu i Sant Pau, Mas Casanovas 90, 08041, Barcelona, Spain; Centro Investigacion Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/mus.23843DOI Listing
December 2013

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

Myasthenia gravis and the neuromuscular junction.

Curr Opin Neurol 2013 Oct;26(5):459-65

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

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http://dx.doi.org/10.1097/WCO.0b013e328364c079DOI Listing
October 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

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

Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.

Neuromuscul Disord 2012 Oct;22 Suppl 2:S148-54

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

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http://dx.doi.org/10.1016/j.nmd.2012.05.011DOI Listing
October 2012

Treatment strategies for myasthenia gravis: an update.

Expert Opin Pharmacother 2012 Sep 9;13(13):1873-83. Epub 2012 Jul 9.

Hospital de Sant Pau, Barcelona, Spain.

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http://dx.doi.org/10.1517/14656566.2012.705831DOI Listing
September 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

172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands.

Neuromuscul Disord 2011 Jul 23;21(7):503-12. Epub 2011 May 23.

Département de Génétique Médicale, Hôpital d'Enfants de la Timone, AP-HM, and Inserm UMR_S 910, Université de la Méditerranée, Marseille, France.

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http://dx.doi.org/10.1016/j.nmd.2011.04.006DOI 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

Treatment strategies for myasthenia gravis.

Expert Opin Pharmacother 2009 Jun;10(8):1329-42

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

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http://dx.doi.org/10.1517/14656560902950619DOI Listing
June 2009

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

Severe Guillain-Barré syndrome: sorting out the pathological hallmark in an electrophysiological axonal case.

J Peripher Nerv Syst 2009 Mar;14(1):54-63

Service of Neurology, University Hospital Marqués de Valdecilla, Instituto de Formación e Investigación Marqués de Valdecilla, University of Cantabria, Santander, Spain.

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http://dx.doi.org/10.1111/j.1529-8027.2009.00206.xDOI Listing
March 2009

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

Neuromuscul Disord 2008 Dec 22;18(12):922-8. Epub 2008 Oct 22.

Folkhälsan Institute of Genetics, Department of Medical Genetics, University of Helsinki, Haartmaninkatu 8, Pb 63, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2008.07.010DOI Listing
December 2008

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

Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report.

J Med Case Rep 2008 Aug 27;2:284. Epub 2008 Aug 27.

Departament de Bioquímica i Biologia Molecular and Institut de Biomedicina (IBUB), Universitat de Barcelona, and CIBER Fisiopatologia Obesidad y Nutrición, Instituto de Salud Carlos III, Avda Diagonal 645, 08028, Barcelona, Spain.

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http://jmedicalcasereports.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/1752-1947-2-284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2533346PMC
August 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