Affiliation: Hospital de la Santa Creu i Sant Pau
- Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotypeI 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...
- IVIg in myasthenia gravis, Lambert Eaton myasthenic syndrome and inflammatory myopathies: current statusIsabel 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..Uncontrolled trials and case reports indicate benefit in many different clinical situations, but further clinical investigation is required...
- Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patientsIsabel 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...
- Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathyNoemi 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...
- Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)GalRicard 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...
- 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...
- Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodiesRicard 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....
- Chronic sensorimotor polyradiculopathy with antibodies to P2: an electrophysiological and immunoproteomic analysisRicard 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....
- Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndromeJordi 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...
- Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patientJordi 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...
- Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patientsCarolina 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....
- ["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...
- Neuromuscular dysfunction in adult growth hormone deficiencySusan 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...
- 1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trialNoemi 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...
- Treatment strategies for myasthenia gravisJordi 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...
- In vivo and in vitro dysferlin expression in human muscle satellite cellsNoemi 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...
- A novel antiganglioside specificity against terminal NeuNAc(alfa 2-3)Gal in acute bulbar palsyRicard 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...
- Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this associationJordi Sanahuja
Department of Neurology, Hospital Universitari Arnau de Vilanova, Lleida, Spain
Arch Neurol 62:1911-4. 2005....
- A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegiaTomàs 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...
- A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathyMengfatt 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...
- Antibodies against disialosyl and terminal NeuNAc(alpha2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathyRicard Rojas-Garcia
J Neurol 255:764-6. 2008
- Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish populationJuan 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...
- Cost-utility analysis of intravenous immunoglobulin and prednisolone for chronic inflammatory demyelinating polyradiculoneuropathyPaul 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...
- Inflammatory myopathy with abundant macrophages (IMAM): a condition sharing similarities with cytophagic histiocytic panniculitis and distinct from macrophagic myofasciitisGuillaume Bassez
Systeme Neuromusculaire et Inflammation (INSERM, EMI 0011, , , , , 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...
- X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterizationCarmen Paradas
, 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...
- Does Campylobacter jejuni infection elicit "demyelinating" Guillain-Barré syndrome?Jose Berciano
Neurology 64:766-7; author reply 766-7. 2005
- A randomised controlled trial of intravenous immunoglobulin in IgM paraprotein associated demyelinating neuropathyGiancarlo 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...