La Unidad de Enfermedades Neuromusculares del Hospital de la Santa Creu i Sant Pau convoca la primera Fellowship “Professora Isabel Illa” de formación en Enfermedades Neuromusculares
La Unidad de Enfermedades Neuromusculares del Hospital de la Santa Creu i Sant Pau convoca la primera Fellowship “Professora Isabel Illa” de formación en Enfermedades Neuromusculares
Artículo Completo
La Unidad de Enfermedades Neuromusculares del Hospital de la Santa Creu i Sant Pau acaba de publicar un nuevo artículo
La Unidad de Enfermedades Neuromusculares del Hospital de la Santa Creu i Sant Pau acaba de publicar un nuevo artículo
Artículo Completo
Como cada año, el curso de enfermedades neuromusculares que se realizará el 24, 25 y 26 de mayo en el Hospital de Sant Pau, reunirá a profesionales interesados en la patología neuromuscular
Como cada año, el curso de enfermedades neuromusculares que se realizará el 24, 25 y 26 de mayo en el Hospital de Sant Pau, reunirá a profesionales interesados en la patología neuromuscular
Artículo Completo
Como cada año, el curso de enfermedades neuromusculares que se realizará el 25, 26 y 27 de mayo en el Hospital de Sant Pau, reunirá a profesionales interesados en la patología neuromuscular.
Durante tres días intensos se impartirán clases sobre los grandes grupos de patología neuromuscular. Estas clases están realizadas por expertos nacionales e internacionales en cada tema. Los talleres se realizarán por la tarde, profundizando en aspectos más técnicos y pruebas diagnósticas fundamentales en estas patologías.
Como cada año, el curso de enfermedades neuromusculares que se realizará el 25, 26 y 27 de mayo en el Hospital de Sant Pau, reunirá a profesionales interesados en la patología neuromuscular.
Durante tres días intensos se impartirán clases sobre los grandes grupos de patología neuromuscular. Estas clases están realizadas por expertos nacionales e internacionales en cada tema. Los talleres se realizarán por la tarde, profundizando en aspectos más técnicos y pruebas diagnósticas fundamentales en estas patologías.
Artículo Completo
Desde la Unidad de Enfermedades Neuromusculares del Hospital de Sant Pau lamentamos comunicar la triste noticia del fallecimiento de la Dra Isabel Illa, fundadora y Directora de la Unidad, Catedrática de Neurología, pionera en el campo de las enfermedades neuromusculares en nuestro país, maestra y mentora de muchos de nosotros. DEP.
Desde la Unidad de Enfermedades Neuromusculares del Hospital de Sant Pau lamentamos comunicar la triste noticia del fallecimiento de la Dra Isabel Illa, fundadora y Directora de la Unidad, Catedrática de Neurología, pionera en el campo de las enfermedades neuromusculares en nuestro país, maestra y mentora de muchos de nosotros. DEP.
Artículo Completo
La preinscripción para el X curso de Formación en Enfermedades Neuromusculares ya está abierta.
Este curso gratuito que se celebra en el Hospital de la Santa Creu i Sant Pau vuelve a ser presencial, salvo imprevistos, y tendrá lugar los días 25, 26 y 27 de Mayo de 2022.
La preinscripción para el X curso de Formación en Enfermedades Neuromusculares ya está abierta.
Este curso gratuito que se celebra en el Hospital de la Santa Creu i Sant Pau vuelve a ser presencial, salvo imprevistos, y tendrá lugar los días 25, 26 y 27 de Mayo de 2022.
Artículo Completo
La Dra. Lorena Martín Aguilar, investigadora del Grupo de Enfermedades Neuromusculares del Instituto de Investigación del Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, ha sido reconocida con el Premio Richard A.C. Hughes en el marco de la reunión anual de la Peripheral Nerve Society.
La Dra. Lorena Martín Aguilar, investigadora del Grupo de Enfermedades Neuromusculares del Instituto de Investigación del Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, ha sido reconocida con el Premio Richard A.C. Hughes en el marco de la reunión anual de la Peripheral Nerve Society.
Artículo Completo
El pasado viernes 28 de mayo concluyó el IX Curso de Enfermedades Neuromusculares impulsado por la Unidad de Enfermedades Neuromusculares del Hospital de la Santa Creu i Sant Pau y que cuenta cada año con la colaboración de grandes profesionales de toda España en este campo de enfermedades. Un curso donde los asistentes profundizan de forma intensa en los conocimientos de estas enfermedades a través de clases tanto teóricas como prácticas.
El pasado viernes 28 de mayo concluyó el IX Curso de Enfermedades Neuromusculares impulsado por la Unidad de Enfermedades Neuromusculares del Hospital de la Santa Creu i Sant Pau y que cuenta cada año con la colaboración de grandes profesionales de toda España en este campo de enfermedades. Un curso donde los asistentes profundizan de forma intensa en los conocimientos de estas enfermedades a través de clases tanto teóricas como prácticas.
Artículo Completo
La Dra Montse Olivé ha sido galardonada con el premio Eduard Bertran Rubió de la Sociedad Catalana de Neurología. El premio se otorga a profesionales en reconocimiento a la excelencia en la trayectoria profesional y académica
La Dra Montse Olivé ha sido galardonada con el premio Eduard Bertran Rubió de la Sociedad Catalana de Neurología. El premio se otorga a profesionales en reconocimiento a la excelencia en la trayectoria profesional y académica
Artículo Completo
Después de una primera semana teórica, el pasado viernes 14 de Mayo se realizó la primera sesión en streaming donde los alumnos pudieron interactuar en directo con los profesionales en Enfermedades Neuromusculares.
Después de una primera semana teórica, el pasado viernes 14 de Mayo se realizó la primera sesión en streaming donde los alumnos pudieron interactuar en directo con los profesionales en Enfermedades Neuromusculares.
Artículo Completo
Quienes somos
Equipo Clínico
Equipo Investigación
Ricard Rojas García
MD PhD – Neurólogo Adjunto
Neurólogo
Luis Querol Gutiérrez
MD PhD – Neurólogo Adjunto
Neurólogo
Janina Turon i Sans
Neurofisióloga Adjunta
Neurofisióloga Adjunta
Elena Cortés Vicente
Neuróloga - Investigadora Post-doctoral
Neuróloga
Elba Pascual Goñi
Neuróloga - Investigadora Postdoctoral
Neuróloga - Investigadora Postdoctoral
Lorena Martín Aguilar
Neuróloga - Investigadora Postdoctoral
Neuróloga - Investigadora Postdoctoral
Ana Vesperinas Castro
Neuróloga - Investigadora predoctoral
Neuróloga - Investigadora predoctoral
Marta Caballero Ávila
Neuróloga - Investigadora predoctoral
Neuróloga - Investigadora predoctoral
Álvaro Carbayo Viejo
Neurólogo - Investigador predoctoral
Neurólogo - Investigador predoctoral
Manuel Cabezas Torres
Enfermero gestor de casos
Enfermero gestor de casos
Eduard Gallardo Vigo
PhD – Investigador Senior
Investigador Senior
Jordi Díaz Manera
MD PhD – Investigador colaborador
Investigador colaborador
Cinta Lleixà
Investigadora pre-doctoral
Investigadora pre-doctoral
Carmen Martínez Bernal
Técnica de laboratorio
Técnica de laboratorio
Rosa Blanco Soto
Técnica de laboratorio
Técnica de laboratorio
Publicaciones
Clinical and pathophysiological implications of autoantibodies in autoimmune neuropathies.
Rev Neurol (Paris)
10/03/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
15/02/2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Neuromuscul Disord
01/02/2023
Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.
Neurol Neuroimmunol Neuroinflamm
21/11/2022
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
J Neuromuscul Dis
01/01/2023
Survey on the management of Pompe disease in routine clinical practice in Spain.
Orphanet J Rare Dis
05/12/2022
Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/12/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
10/08/2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Am J Pathol
01/08/2022
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
21/06/2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/06/2022
High prevalence of paraspinal muscle involvement in adults with McArdle disease.
Muscle Nerve
01/05/2022
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy.
J Cachexia Sarcopenia Muscle
01/04/2022
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
J Oncol Pharm Pract
11/02/2022
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Ann Clin Transl Neurol
01/02/2022
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
02/11/2021
Novel Immunological and Therapeutic Insights in Guillain-Barré Syndrome and CIDP.
Neurotherapeutics
01/10/2021
Autoimmune nodopathies: treatable neuropathies beyond traditional classifications.
J Neurol Neurosurg Psychiatry
01/10/2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Neuromuscul Disord
01/08/2021
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Front Neurol
08/07/2021
Chronic inflammatory demyelinating polyneuropathy with hypertrophic nerves.
J Peripher Nerv Syst
01/06/2021
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Eur J Neurol
01/06/2021
Perception of Stigma in Patients with Neuromyelitis Optica Spectrum Disorder.
Patient Prefer Adherence
12/04/2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Neuromuscul Disord
01/04/2021
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
01/03/2021
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
BMC Musculoskelet Disord
27/11/2020
Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.
J Neurol Neurosurg Psychiatry
05/11/2020
The increasing role of muscle MRI to monitor changes over time in untreated and treated muscle diseases.
Curr Opin Neurol
01/10/2020
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurol Neuroimmunol Neuroinflamm
15/07/2020
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurol Neuroimmunol Neuroinflamm
25/06/2020
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
J Cachexia Sarcopenia Muscle
01/08/2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.
Ann Clin Transl Neurol
01/06/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Neurologia (Engl Ed)
01/04/2020
Pain and the immune system: emerging concepts of IgG-mediated autoimmune pain and immunotherapies.
J Neurol Neurosurg Psychiatry
01/02/2020
Autoantibodies in chronic inflammatory demyelinating polyradiculoneuropathy.
Curr Opin Neurol
01/10/2019
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.
Neurol Neuroimmunol Neuroinflamm
24/07/2019
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Ann Clin Transl Neurol
01/07/2019
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Neuropathol Appl Neurobiol
01/06/2019
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
01/05/2019
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
J Neurol Neurosurg Psychiatry
01/11/2018
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
J Neurol Neurosurg Psychiatry
01/10/2018
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.
Ann Clin Transl Neurol
26/03/2018
Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.
Ann Clin Transl Neurol
07/03/2018
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.
Eur J Neurol
01/02/2018
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
01/01/2018
Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.
Nat Rev Neurol
01/09/2017
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.
Amyotroph Lateral Scler Frontotemporal Degener
01/08/2017
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.
Arthritis Res Ther
24/07/2017
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/10/2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Neurol Genet
04/08/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
Neuromuscul Disord
01/01/2016
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.
Neurol Neuroimmunol Neuroinflamm
03/09/2015
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
J Inherit Metab Dis
01/03/2015
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
J Neuromuscul Dis
01/01/2015
Comprehensive care of amyotrophic lateral sclerosis patients: a care model.
Arch Bronconeumol
01/12/2013
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Int J Biochem Cell Biol
01/08/2013
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Orphanet J Rare Dis
23/10/2012
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Neuromuscul Disord
01/10/2012
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
J Neuropathol Exp Neurol
01/06/2010
Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
J Neurol Neurosurg Psychiatry
01/06/2010
Early and late neurological complications after reduced-intensity conditioning allogeneic stem cell transplantation.
Biol Blood Marrow Transplant
01/11/2009
Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients.
J Neuroimmunol
15/09/2008
Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome.
Nat Clin Pract Neurol
01/07/2007
Dysferlin expression in monocytes: a source of mRNA for mutation analysis.
Neuromuscul Disord
01/01/2007
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Neuromuscul Disord
01/05/2004
Cathepsins are upregulated by IFN-gamma/STAT1 in human muscle culture: a possible active factor in dermatomyositis.
J Neuropathol Exp Neurol
01/09/2001
[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].
Med Clin (Barc)
02/06/2001
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A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
15/02/2023
Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.
Neurol Neuroimmunol Neuroinflamm
21/11/2022
Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.
Neurol Neuroimmunol Neuroinflamm
21/11/2022
Survey on the management of Pompe disease in routine clinical practice in Spain.
Orphanet J Rare Dis
05/12/2022
Survey on the management of Pompe disease in routine clinical practice in Spain.
Orphanet J Rare Dis
05/12/2022
Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/12/2022
Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/12/2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Am J Pathol
01/08/2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/06/2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/06/2022
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy.
J Cachexia Sarcopenia Muscle
01/04/2022
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy.
J Cachexia Sarcopenia Muscle
01/04/2022
Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Ann Clin Transl Neurol
01/02/2022
Autoimmune nodopathies: treatable neuropathies beyond traditional classifications.
J Neurol Neurosurg Psychiatry
01/10/2021
Autoimmune nodopathies: treatable neuropathies beyond traditional classifications.
J Neurol Neurosurg Psychiatry
01/10/2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Neuromuscul Disord
01/04/2021
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
BMC Musculoskelet Disord
27/11/2020
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
BMC Musculoskelet Disord
27/11/2020
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurol Neuroimmunol Neuroinflamm
15/07/2020
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurol Neuroimmunol Neuroinflamm
15/07/2020
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
J Cachexia Sarcopenia Muscle
01/08/2020
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
J Cachexia Sarcopenia Muscle
01/08/2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.
Ann Clin Transl Neurol
01/06/2020
Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.
Ann Clin Transl Neurol
01/06/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Autoantibodies in chronic inflammatory demyelinating polyradiculoneuropathy.
Curr Opin Neurol
01/10/2019
Autoantibodies in chronic inflammatory demyelinating polyradiculoneuropathy.
Curr Opin Neurol
01/10/2019
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Ann Clin Transl Neurol
01/07/2019
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Ann Clin Transl Neurol
01/07/2019
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Neuropathol Appl Neurobiol
01/06/2019
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Neuropathol Appl Neurobiol
01/06/2019
Anti-Neurofascin-155 IgG4 antibodies prevent paranodal complex formation in vivo.
J Clin Invest
14/03/2019
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.
Ann Clin Transl Neurol
26/03/2018
Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.
Ann Clin Transl Neurol
07/03/2018
Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.
Ann Clin Transl Neurol
07/03/2018
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
J Neuroinflammation
16/11/2017
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
J Neuroinflammation
16/11/2017
Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.
Nat Rev Neurol
01/09/2017
Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.
Nat Rev Neurol
01/09/2017
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.
Amyotroph Lateral Scler Frontotemporal Degener
01/08/2017
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.
Amyotroph Lateral Scler Frontotemporal Degener
01/08/2017
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.
Arthritis Res Ther
24/07/2017
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Neurol Genet
04/08/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.
J Neuroimmunol
15/02/2016
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
J Neuromuscul Dis
01/01/2015
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
J Neuromuscul Dis
01/01/2015
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Orphanet J Rare Dis
23/10/2012
Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
J Neurol Neurosurg Psychiatry
01/06/2010
Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
J Neurol Neurosurg Psychiatry
01/06/2010
Early and late neurological complications after reduced-intensity conditioning allogeneic stem cell transplantation.
Biol Blood Marrow Transplant
01/11/2009
Early and late neurological complications after reduced-intensity conditioning allogeneic stem cell transplantation.
Biol Blood Marrow Transplant
01/11/2009
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
Cathepsins are upregulated by IFN-gamma/STAT1 in human muscle culture: a possible active factor in dermatomyositis.
J Neuropathol Exp Neurol
01/09/2001
Cathepsins are upregulated by IFN-gamma/STAT1 in human muscle culture: a possible active factor in dermatomyositis.
J Neuropathol Exp Neurol
01/09/2001
[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].
Med Clin (Barc)
02/06/2001
[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].
Med Clin (Barc)
02/06/2001
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A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
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Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.
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21/11/2022
Guillain-Barré Syndrome Following Zika Virus Infection Is Associated With a Diverse Spectrum of Peripheral Nerve Reactive Antibodies.
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21/11/2022
Survey on the management of Pompe disease in routine clinical practice in Spain.
Orphanet J Rare Dis
05/12/2022
Survey on the management of Pompe disease in routine clinical practice in Spain.
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Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
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Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/12/2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Am J Pathol
01/08/2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/06/2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/06/2022
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy.
J Cachexia Sarcopenia Muscle
01/04/2022
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells: implications for Duchenne muscular dystrophy.
J Cachexia Sarcopenia Muscle
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Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.
Ann Clin Transl Neurol
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Autoimmune nodopathies: treatable neuropathies beyond traditional classifications.
J Neurol Neurosurg Psychiatry
01/10/2021
Autoimmune nodopathies: treatable neuropathies beyond traditional classifications.
J Neurol Neurosurg Psychiatry
01/10/2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Neuromuscul Disord
01/04/2021
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
BMC Musculoskelet Disord
27/11/2020
Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes.
BMC Musculoskelet Disord
27/11/2020
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurol Neuroimmunol Neuroinflamm
15/07/2020
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurol Neuroimmunol Neuroinflamm
15/07/2020
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
J Cachexia Sarcopenia Muscle
01/08/2020
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
J Cachexia Sarcopenia Muscle
01/08/2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.
Ann Clin Transl Neurol
01/06/2020
Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.
Ann Clin Transl Neurol
01/06/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Autoantibodies in chronic inflammatory demyelinating polyradiculoneuropathy.
Curr Opin Neurol
01/10/2019
Autoantibodies in chronic inflammatory demyelinating polyradiculoneuropathy.
Curr Opin Neurol
01/10/2019
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Ann Clin Transl Neurol
01/07/2019
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Ann Clin Transl Neurol
01/07/2019
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Neuropathol Appl Neurobiol
01/06/2019
Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Neuropathol Appl Neurobiol
01/06/2019
Anti-Neurofascin-155 IgG4 antibodies prevent paranodal complex formation in vivo.
J Clin Invest
14/03/2019
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.
Ann Clin Transl Neurol
26/03/2018
Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.
Ann Clin Transl Neurol
07/03/2018
Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.
Ann Clin Transl Neurol
07/03/2018
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
J Neuroinflammation
16/11/2017
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
J Neuroinflammation
16/11/2017
Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.
Nat Rev Neurol
01/09/2017
Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.
Nat Rev Neurol
01/09/2017
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.
Amyotroph Lateral Scler Frontotemporal Degener
01/08/2017
Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria.
Amyotroph Lateral Scler Frontotemporal Degener
01/08/2017
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.
Arthritis Res Ther
24/07/2017
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Neurol Genet
04/08/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.
J Neuroimmunol
15/02/2016
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
J Neuromuscul Dis
01/01/2015
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
J Neuromuscul Dis
01/01/2015
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
Orphanet J Rare Dis
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Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
J Neurol Neurosurg Psychiatry
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Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
J Neurol Neurosurg Psychiatry
01/06/2010
Early and late neurological complications after reduced-intensity conditioning allogeneic stem cell transplantation.
Biol Blood Marrow Transplant
01/11/2009
Early and late neurological complications after reduced-intensity conditioning allogeneic stem cell transplantation.
Biol Blood Marrow Transplant
01/11/2009
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
Cathepsins are upregulated by IFN-gamma/STAT1 in human muscle culture: a possible active factor in dermatomyositis.
J Neuropathol Exp Neurol
01/09/2001
Cathepsins are upregulated by IFN-gamma/STAT1 in human muscle culture: a possible active factor in dermatomyositis.
J Neuropathol Exp Neurol
01/09/2001
[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].
Med Clin (Barc)
02/06/2001
[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].
Med Clin (Barc)
02/06/2001