Isabel Illa

Summary

Affiliation: Hospital de la Santa Creu i Sant Pau
Country: Spain

Publications

  1. ncbi request reprint Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
    I Illa
    Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain
    Ann Neurol 49:130-4. 2001
  2. ncbi request reprint IVIg in myasthenia gravis, Lambert Eaton myasthenic syndrome and inflammatory myopathies: current status
    Isabel Illa
    Chief Neuromuscular Diseases Unit, Servei Neurologia, Hospital Sta Creu i Sant Pau, Universitat Autonoma de Barcelona, 08025 Barcelona, Spain
    J Neurol 252:I14-8. 2005
  3. doi request reprint Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy
    Luis Querol
    Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    Ann Neurol 73:370-80. 2013
  4. doi request reprint Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients
    Isabel Illa
    Department of Neurology, Neuromuscular Unit, Hospital Santa Creu i Sant Pau, Universitat Autonoma Barcelona, Barcelona, Spain
    J Neuroimmunol 201:90-4. 2008
  5. ncbi request reprint Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro"
    Noemi De Luna
    Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, 08025 Barcelona, Spain
    J Biol Chem 281:17092-8. 2006
  6. pmc 1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial
    Noemi De Luna
    Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain
    Mol Ther 20:1988-97. 2012
  7. pmc Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg
    Luis Querol
    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
    Neurology 82:879-86. 2014
  8. ncbi request reprint Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy
    Noemi De Luna
    Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain
    J Neuropathol Exp Neurol 69:643-53. 2010
  9. ncbi request reprint Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal
    Ricard Rojas-Garcia
    Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    J Neurol Neurosurg Psychiatry 81:623-8. 2010
  10. pmc Analysis of serum miRNA profiles of myasthenia gravis patients
    Gisela Nogales-Gadea
    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
    PLoS ONE 9:e91927. 2014

Collaborators

Detail Information

Publications33

  1. ncbi request reprint Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype
    I Illa
    Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain
    Ann Neurol 49:130-4. 2001
    ..Dysferlin immunostaining was negative. Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene. This phenotype further demonstrates the clinical heterogeneity of the dysferlinopathies...
  2. ncbi request reprint IVIg in myasthenia gravis, Lambert Eaton myasthenic syndrome and inflammatory myopathies: current status
    Isabel Illa
    Chief Neuromuscular Diseases Unit, Servei Neurologia, Hospital Sta Creu i Sant Pau, Universitat Autonoma de Barcelona, 08025 Barcelona, Spain
    J Neurol 252:I14-8. 2005
    ..However improvement in swallowing was repeatedly observed, suggesting that some patients with severe dysphagia may derive a modest benefit from IVIg therapy...
  3. doi request reprint Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy
    Luis Querol
    Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    Ann Neurol 73:370-80. 2013
    ..Axoglial junction proteins have been proposed as candidate antigens. We examined the reactivity of CIDP patients' sera against neuronal antigens and used immunoprecipitation for antigen unraveling...
  4. doi request reprint Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients
    Isabel Illa
    Department of Neurology, Neuromuscular Unit, Hospital Santa Creu i Sant Pau, Universitat Autonoma Barcelona, Barcelona, Spain
    J Neuroimmunol 201:90-4. 2008
    ..046) and correlated with a more sustained clinical improvement. We did not find any significant changes in IgG4 that could explain the different outcome observed between these two groups...
  5. ncbi request reprint Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro"
    Noemi De Luna
    Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, 08025 Barcelona, Spain
    J Biol Chem 281:17092-8. 2006
    ..These results point to a functional link between dysferlin and myogenin, and both proteins may share a new signaling pathway involved in differentiation of skeletal muscle in vitro...
  6. pmc 1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial
    Noemi De Luna
    Laboratori de Malalties Neuromusculars, Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain
    Mol Ther 20:1988-97. 2012
    ..05). These findings will have important therapeutic implications since a combination of different molecular strategies together with vitamin D3 uptake could increase dysferlin expression to nonpathological protein levels...
  7. pmc Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg
    Luis Querol
    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
    Neurology 82:879-86. 2014
    ..To describe the frequency of antibodies against neurofascin in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and the associated clinical features...
  8. ncbi request reprint Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy
    Noemi De Luna
    Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Spain
    J Neuropathol Exp Neurol 69:643-53. 2010
    ..Taken together, the data demonstrate that dysferlin-deficient muscle upregulates TSP-1 in vivoand in vitro and indicate that endogenous chemotactic factors arecrucial to the sustained inflammatory process observed in dysferlinopathies...
  9. ncbi request reprint Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal
    Ricard Rojas-Garcia
    Department of Neurology, Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    J Neurol Neurosurg Psychiatry 81:623-8. 2010
    ..The authors suggested a correlation between NeuNAc(alpha2-3)Gal reactivity and bulbar involvement...
  10. pmc Analysis of serum miRNA profiles of myasthenia gravis patients
    Gisela Nogales-Gadea
    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
    PLoS ONE 9:e91927. 2014
    ....
  11. ncbi request reprint Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome
    Jordi Diaz-Manera
    Neuromuscular Diseases Section, Department of Neurology, at Hospital de la Santa Creu i Sant Pau in Barcelona, Spain
    Nat Clin Pract Neurol 3:405-10. 2007
    ..Mild limb weakness with severe muscle atrophy and diffuse muscle twitches were observed. The patient had also developed visual hallucinations and persecutory delusions. Her personal and family medical histories were unremarkable...
  12. doi request reprint Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies
    Ricard Rojas-Garcia
    Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    J Peripher Nerv Syst 17:158-68. 2012
    ....
  13. ncbi request reprint Chronic sensorimotor polyradiculopathy with antibodies to P2: an electrophysiological and immunoproteomic analysis
    Ricard Rojas-Garcia
    Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Avenue Sant Antoni Maria Claret 167, Barcelona, Spain
    Muscle Nerve 38:933-8. 2008
    ....
  14. doi request reprint Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient
    Jordi Diaz-Manera
    Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Avenue Sant Antoni Maria Claret 167, Barcelona 08025, Spain
    Muscle Nerve 39:386-8. 2009
    ..It allowed the previously wheelchair-dependent patient to achieve pharmacological remission. The 2-year follow-up of this case further illustrates the role that methotrexate may play as a treatment option for CIDP patients...
  15. doi request reprint Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients
    Carolina de la Torre
    Laboratory of Experimental Neurology, Institut de Recerca HSCSP, Universitat Autonoma de Barcelona, Barcelona, Spain Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas CIBERNED, Madrid, Spain
    Proteomics Clin Appl 3:486-97. 2009
    ....
  16. ncbi request reprint Neuromuscular dysfunction in adult growth hormone deficiency
    Susan M Webb
    Department of Endocrinology, Hospital Sant Pau, Autonomous University of Barcelona, Spain
    Clin Endocrinol (Oxf) 59:450-8. 2003
    ..Adult growth hormone deficiency (AGHD) is associated with fatigue, tiredness and myalgias, which improve after initiating recombinant human GH (rhGH) therapy...
  17. ncbi request reprint ["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series]
    Isabel Illa
    Unidad de Enfermedades Musculares, Servicio de Neurologia, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Med Clin (Barc) 125:100-2. 2005
    ..Our objective was to describe a group of patients who were positive for anti-MuSK antibodies...
  18. doi request reprint Myasthenia gravis and the neuromuscular junction
    Luis Querol
    Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    Curr Opin Neurol 26:459-65. 2013
    ..Their pathogenesis is diverse, including genetic and autoimmune mechanisms. We review recent findings on risk factors, pathogenesis and treatment of autoimmune myasthenia gravis...
  19. doi request reprint Paraproteinemic neuropathies
    Ricard Rojas-Garcia
    Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    Presse Med 42:e225-34. 2013
    ..In most patients, however, the monoclonal gammopathy is not associated with malignant haematological disorders, and is defined as monoclonal gammopathy of undetermined significance...
  20. doi request reprint Treatment strategies for myasthenia gravis
    Jordi Diaz-Manera
    Universitat Autonoma Barcelona, Hospital Santa Creu i Sant Pau, Neuromuscular Diseases Unit, Neurology Department, Av Sant Antoni Maria Claret 167, 08025 Barcelona, Spain
    Expert Opin Pharmacother 10:1329-42. 2009
    ..We use rituximab or cyclophosphamide only in severely drug-resistant patients. Finally, we recommend intravenous immunoglobulins or plasma exchange in MG crisis, or for unstable patients before thymectomy or in clinical exacerbations...
  21. ncbi request reprint In vivo and in vitro dysferlin expression in human muscle satellite cells
    Noemi De Luna
    Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    J Neuropathol Exp Neurol 63:1104-13. 2004
    ..These results and the in vivo findings of dysferlin expression when SCs are activated confirm the involvement of dysferlin in human muscle regeneration/repair and its possible role in fusion events during muscle development...
  22. doi request reprint Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle
    Bàrbara Flix
    Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Barcelona, Spain
    Int J Biochem Cell Biol 45:1927-38. 2013
    ..This knowledge may help us to better understand the roles of dysferlin in muscle tissue and identify new genes involved in muscular dystrophies in which the responsible gene is unknown. ..
  23. ncbi request reprint A novel antiganglioside specificity against terminal NeuNAc(alfa 2-3)Gal in acute bulbar palsy
    Ricard Rojas-Garcia
    Department of Neurology, Hospital de la Sta Creu i St Pau and Institut de Recerca HSCSP, Universitat Autonoma de Barcelona, Barcelona, Sant Antoni Maria Claret 167 08025, Spain
    J Neuroimmunol 176:219-22. 2006
    ..These data are supportive for extending the panel of antiganglioside specificities with anti-GM3...
  24. ncbi request reprint Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association
    Jordi Sanahuja
    Department of Neurology, Hospital Universitari Arnau de Vilanova, Lleida, Spain
    Arch Neurol 62:1911-4. 2005
    ..To describe a large family with hereditary neuropathy with liability to pressure palsies associated with central nervous system demyelination...
  25. doi request reprint A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia
    Tomàs Pinós
    Unitat de Patologia Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain
    Mitochondrion 11:228-33. 2011
    ..5636T nucleotide is conserved in all the mammal and non-mammal species analyzed and might be structurally relevant as it is located in a position involved in the formation of tertiary structure of canonical mitochondrial tRNAs...
  26. ncbi request reprint A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
    Mengfatt Ho
    Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts 2129, USA
    Ann Neurol 51:129-33. 2002
    ..In our analysis of 12 patients with limb girdle muscular dystrophy 2B or Miyoshi myopathy, the findings obtained using the new assay are fully consistent with the results from muscle immunodiagnosis...
  27. doi request reprint Antibodies against disialosyl and terminal NeuNAc(alpha2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy
    Ricard Rojas-Garcia
    J Neurol 255:764-6. 2008
  28. ncbi request reprint Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population
    Juan J Vilchez
    Servicio de Neurologia, Hospital Universitari La Fe, Valencia, Spain
    Arch Neurol 62:1256-9. 2005
    ..Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy...
  29. ncbi request reprint Inflammatory myopathy with abundant macrophages (IMAM): a condition sharing similarities with cytophagic histiocytic panniculitis and distinct from macrophagic myofasciitis
    Guillaume Bassez
    Systeme Neuromusculaire et Inflammation INSERM, EMI 0011, Université Paris XII Val de Marne, Departement de Pathologie, Hopital Henri Mondor, Creteil, France
    J Neuropathol Exp Neurol 62:464-74. 2003
    ..Both IMAM and CHP, but not MMF, may be associated with a life-threatening hemophagocytic syndrome...
  30. ncbi request reprint A randomised controlled trial of intravenous immunoglobulin in IgM paraprotein associated demyelinating neuropathy
    Giancarlo Comi
    Department of Neurology, Ospedale San Raffaele, Via Olgettina 60, 20132 Milan, Italy
    J Neurol 249:1370-7. 2002
    ..Two serious adverse events occurred during the trial, both during placebo treatment. In conclusion the trial showed some short-term benefit of IVIg in about half of the patients confirming previous observation...
  31. ncbi request reprint Does Campylobacter jejuni infection elicit "demyelinating" Guillain-Barré syndrome?
    Jose Berciano
    Neurology 64:766-7; author reply 766-7. 2005
  32. ncbi request reprint X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization
    Carmen Paradas
    Servicio de Neurologia, Hospital Universitario de Valme, Sevilla, Spain
    Muscle Nerve 32:61-5. 2005
    ..The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding...
  33. ncbi request reprint Cost-utility analysis of intravenous immunoglobulin and prednisolone for chronic inflammatory demyelinating polyradiculoneuropathy
    Paul McCrone
    Centre for the Economics of Mental Health, Health Services Research Department, Institute of Psychiatry, King s College London, UK
    Eur J Neurol 10:687-94. 2003
    ..The impact of later side-effects of prednisolone on long-term costs and quality of life are likely to reduce the cost per QALY of IVIg treatment...