Con motivo del Día Nacional de la Miastenia Gravis la Asociación de pacientes AMES ha organizado una serie de actividades informativas para dar visibilidad a esta enfermedad.
La miastenia grave (MG) es una enfermedad neuromuscular poco frecuente que se caracteriza porque los pacientes tienen fatigabilidad y debilidad de los músculos voluntarios. La debilidad puede afectar cualquier músculo incluyendo músculos oculares, de las extremidades y músculos vitales, responsables de la función respiratoria, de la deglución y de la fonación.
Con motivo del Día Nacional de la Miastenia Gravis la Asociación de pacientes AMES ha organizado una serie de actividades informativas para dar visibilidad a esta enfermedad.
La miastenia grave (MG) es una enfermedad neuromuscular poco frecuente que se caracteriza porque los pacientes tienen fatigabilidad y debilidad de los músculos voluntarios. La debilidad puede afectar cualquier músculo incluyendo músculos oculares, de las extremidades y músculos vitales, responsables de la función respiratoria, de la deglución y de la fonación.
Artículo Completo
Eduard Gallardo ha sido nombrado jefe de grupo de la U762 CIBERER en el Hospital de Sant Pau de Barcelona en sustitución de Isabel Illa. Este equipo de investigación está especializado en enfermedades neuromusculares.
El Dr. Gallardo trabaja desde 1993 en el campo de las neuropatías desinmunes, miastenia, miopatías inflamatorias y distrofias musculares, y más específicamente en las disferlinopatías. Tiene más de 100 publicaciones (PubMed) en el campo de las enfermedades neuromusculares y ha sido investigador principal de 12 proyectos de investigación.
Eduard Gallardo ha sido nombrado jefe de grupo de la U762 CIBERER en el Hospital de Sant Pau de Barcelona en sustitución de Isabel Illa. Este equipo de investigación está especializado en enfermedades neuromusculares.
El Dr. Gallardo trabaja desde 1993 en el campo de las neuropatías desinmunes, miastenia, miopatías inflamatorias y distrofias musculares, y más específicamente en las disferlinopatías. Tiene más de 100 publicaciones (PubMed) en el campo de las enfermedades neuromusculares y ha sido investigador principal de 12 proyectos de investigación.
Artículo Completo
Debido a la alerta sanitaria mundial que se vive estos días ante la pandemia por SARS-COV2, un grupo de expertos mundiales en Miastenia Gravis ha desarrollado un documento de recomendaciones dirigidos a pacientes y médicos. En el documento adjunto encontraréis recomendaciones generales para pacientes con Miastenia Gravis y Síndrome de Eaton-Lambert, indicaciones para inicio de tratamiento y para pacientes en ensayo clínico.
Debido a la alerta sanitaria mundial que se vive estos días ante la pandemia por SARS-COV2, un grupo de expertos mundiales en Miastenia Gravis ha desarrollado un documento de recomendaciones dirigidos a pacientes y médicos. En el documento adjunto encontraréis recomendaciones generales para pacientes con Miastenia Gravis y Síndrome de Eaton-Lambert, indicaciones para inicio de tratamiento y para pacientes en ensayo clínico.
Artículo Completo
23
Mar
2020
Debido a la situación actual de alerta sanitaria por el COVID-19, se ha decidido la cancelación del curso de este año que tenía lugar los días 13-14-15 de Mayo en el Hospital de Sant Pau.
Debido a la situación actual de alerta sanitaria por el COVID-19, se ha decidido la cancelación del curso de este año que tenía lugar los días 13-14-15 de Mayo en el Hospital de Sant Pau.
Artículo Completo
La Asociación de Pacientes AMES (Asociación Miastenia de España) junto a la Unidad de Enfermedades Neuromusculares celebraran, con motivo del Día de las Enfermedades Rara,s el XIII Congreso Nacional de Miastenia Gravis. Este encuentro tendrá lugar los días 28 y 29 de febrero en el salón de actos del Hospital de Sant Pau. Durante dos días neurólogos especialistas en miastenia gravis, psicólogos y pacientes se juntarán para compartir conocimientos y experiencias.
La Asociación de Pacientes AMES (Asociación Miastenia de España) junto a la Unidad de Enfermedades Neuromusculares celebraran, con motivo del Día de las Enfermedades Rara,s el XIII Congreso Nacional de Miastenia Gravis. Este encuentro tendrá lugar los días 28 y 29 de febrero en el salón de actos del Hospital de Sant Pau. Durante dos días neurólogos especialistas en miastenia gravis, psicólogos y pacientes se juntarán para compartir conocimientos y experiencias.
Artículo Completo
El IX curso se realizará los días 13-14 y 15 de Mayo en el Hospital de la Santa Creu i Sant Pau.
Como en ediciones previas, el número de plazas será limitado a 30 como máximo. La selección de los candidatos se realizará, primero, en función de los años de experiencia (adjuntos tienen prioridad sobre residentes y segundo en función del número de inscritos de cada centro (priorizaremos diversidad de centros). Si hay solicitudes de inscripción muy similares valoraremos el interés futuro en el campo y, si no hay forma posible de realizar esta evaluación se sortearán las plazas restantes.
El IX curso se realizará los días 13-14 y 15 de Mayo en el Hospital de la Santa Creu i Sant Pau.
Como en ediciones previas, el número de plazas será limitado a 30 como máximo. La selección de los candidatos se realizará, primero, en función de los años de experiencia (adjuntos tienen prioridad sobre residentes y segundo en función del número de inscritos de cada centro (priorizaremos diversidad de centros). Si hay solicitudes de inscripción muy similares valoraremos el interés futuro en el campo y, si no hay forma posible de realizar esta evaluación se sortearán las plazas restantes.
Artículo Completo
Como cada año la Sociedad Española de Neurología (SEN) celebra su reunión anual los días del 19 al 23 de Noviembre, este año repitiendo sede en Sevilla.
La Unidad de Enfermedades Neuromusculares del Hospital de Sant Pau, presenta una serie de estudios realizados en las diferentes líneas de investigación desarrolladas por la unidad. Las presentaciones correrán a cargo de adjuntos de la unidad que presentarán estudios realizados dentro del proyecto de tesis doctoral.
Como cada año la Sociedad Española de Neurología (SEN) celebra su reunión anual los días del 19 al 23 de Noviembre, este año repitiendo sede en Sevilla.
La Unidad de Enfermedades Neuromusculares del Hospital de Sant Pau, presenta una serie de estudios realizados en las diferentes líneas de investigación desarrolladas por la unidad. Las presentaciones correrán a cargo de adjuntos de la unidad que presentarán estudios realizados dentro del proyecto de tesis doctoral.
Artículo Completo
01
Oct
2019
Como cada año la «World Muscle Society» celebra su congreso anual los días 1-5 de Octubre en Conpenhagen.
La Unidad de Enfermedades Neuromusculares del Hospital de Sant Pau, presenta tres estudios relacionados con las distrofias musculares. Las presentaciones serán a cargo del estudiante pre-doctoral Dr. Jorge Alonso que presentará tres pósters científicos de estudios dirigidos por el Dr. Jordi Díaz.
Como cada año la «World Muscle Society» celebra su congreso anual los días 1-5 de Octubre en Conpenhagen.
La Unidad de Enfermedades Neuromusculares del Hospital de Sant Pau, presenta tres estudios relacionados con las distrofias musculares. Las presentaciones serán a cargo del estudiante pre-doctoral Dr. Jorge Alonso que presentará tres pósters científicos de estudios dirigidos por el Dr. Jordi Díaz.
Artículo Completo
En las últimas semanas la unidad ha publicado dos trabajos científicos en la revista “Neurology”. Los trabajos responden a tres de las líneas de investigación desarrolladas por la unidad
En las últimas semanas la unidad ha publicado dos trabajos científicos en la revista “Neurology”. Los trabajos responden a tres de las líneas de investigación desarrolladas por la unidad
Artículo Completo
El próximo 12 de abril con motivo del Día Internacional de la Enfermedad de Pompe, la Unidad de Enfermedades Neuromusculares del Hospital de Sant pau junto a la Asociación Española de Enfermos de Pompe (AEEPOMPE) organiza una jornada científica en el Salón de Actos del Hospital de la Santa Creu i Sant Pau. La jornada que tendrá como título “Let’s talk about POMPE” cuenta con la participación de 4 expertos internacionales en la enfermedad que discutirán algunos de los puntos más candentes de la investigación actual en esta patología.
El próximo 12 de abril con motivo del Día Internacional de la Enfermedad de Pompe, la Unidad de Enfermedades Neuromusculares del Hospital de Sant pau junto a la Asociación Española de Enfermos de Pompe (AEEPOMPE) organiza una jornada científica en el Salón de Actos del Hospital de la Santa Creu i Sant Pau. La jornada que tendrá como título “Let’s talk about POMPE” cuenta con la participación de 4 expertos internacionales en la enfermedad que discutirán algunos de los puntos más candentes de la investigación actual en esta patología.
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
Montse Olivé
Neurofisióloga adjunta
Neurofisióloga adjunta
Elena Cortés Vicente
Neuróloga - Investigadora Post-doctoral
Neuróloga
Elba Pascual Goñi
Neuróloga - Investigadora predoctoral
Neuróloga
Lorena Martín Aguilar
Neuróloga e Investigadora pre-doctoral
Neuróloga e Investigadora pre-doctoral
Jorge Alonso Pérez
Neurólogo - Investigador predoctoral
Neurólogo - Investigador predoctoral
Rodrigo Álvarez Velasco
Neurólogo - Investigador predoctoral
Neurólogo - Investigador predoctoral
Francesc Pla Juncà
Coordinador del Registro español de Enfermedades Neuromusculares
Coordinador del Registro español de Enfermedades Neuromusculares
Concepción Escola
Enfermera Asistencial - Gestora de casos
Enfermera
Eduard Gallardo Vigo
PhD – Investigador Senior
Investigador Senior
Noemi de Luna Salvà
PhD – Investigadora post-doctoral CIBERER
Investigadora
Jordi Díaz Manera
MD PhD – Neurólogo Adjunto
Neurólogo
Xavier Suárez-Calvet
PhD – Investigador Post-doctoral
Investigador
Sandra Cabanillas Ruiz
Técnica de laboratorio clínico
Técnica de laboratorio clínico
Cinta Lleixà
Investigadora pre-doctoral
Investigadora pre-doctoral
Publicaciones
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
15/12/2020
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
Consistent improvement with eculizumab across muscle groups in myasthenia gravis.
Ann Clin Transl Neurol
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
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Neurobiol Aging
01/08/2020
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
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Thigh Muscle Fat Infiltration Is Associated With Impaired Physical Performance Despite Remission in Cushing's Syndrome.
J Clin Endocrinol Metab
01/05/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
01/03/2020
Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study.
J Neurol Neurosurg Psychiatry
01/02/2020
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
Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis.
Qual Life Res
01/08/2019
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
Anti-Neurofascin-155 IgG4 antibodies prevent paranodal complex formation in vivo.
J Clin Invest
14/03/2019
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
Individualized immunoglobulin therapy in chronic immune-mediated peripheral neuropathies.
J Peripher Nerv Syst
01/06/2018
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.
Neuromuscul Disord
01/04/2018
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
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
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
Does ability to walk reflect general functionality in inflammatory neuropathies?
J Peripher Nerv Syst
01/06/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/01/2016
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
Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS(©) ).
J Peripher Nerv Syst
01/09/2015
Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.
J Peripher Nerv Syst
01/09/2015
Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison.
J Peripher Nerv Syst
01/09/2015
Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.
J Peripher Nerv Syst
01/09/2015
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
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
Neuromuscul Disord
01/12/2014
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
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Neuromuscul Disord
01/10/2012
Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.
J Peripher Nerv Syst
01/06/2012
Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
Clin Neurophysiol
01/12/2011
172nd ENMC International Workshop: dysferlinopathies 29-31 January 2010, Naarden, The Netherlands.
Neuromuscul Disord
01/07/2011
Revised normative values for grip strength with the Jamar dynamometer.
J Peripher Nerv Syst
01/03/2011
Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal.
J Neurol Neurosurg Psychiatry
01/06/2010
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
J Neuropathol Exp Neurol
01/06/2010
Early and late neurological complications after reduced-intensity conditioning allogeneic stem cell transplantation.
Biol Blood Marrow Transplant
01/11/2009
Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
Proteomics Clin Appl
01/04/2009
Severe Guillain-Barré syndrome: sorting out the pathological hallmark in an electrophysiological axonal case.
J Peripher Nerv Syst
01/03/2009
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscul Disord
01/12/2008
Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients.
J Neuroimmunol
15/09/2008
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
J Neurol Neurosurg Psychiatry
01/02/2008
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
A novel antiganglioside specificity against terminal NeuNAc(alfa 2-3)Gal in acute bulbar palsy.
J Neuroimmunol
01/07/2006
["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].
Med Clin (Barc)
18/06/2005
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
Anti-titin antibodies are not associated with a specific thymoma histology.
J Neurol Neurosurg Psychiatry
01/02/2003
Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance.
J Neuroimmunol
01/11/2001
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
HIV-associated polymyositis with life-threatening myocardial and esophageal involvement.
Arch Intern Med
10/05/1999
Dermatomyositis, polymyositis and inclusion body myositis: current concepts.
Rev Neurol (Paris)
01/01/1998
Antiganglioside antibodies in patients with acute polio and post-polio syndrome.
Ann N Y Acad Sci
25/05/1995
Post-polio syndrome: concepts in clinical diagnosis, pathogenesis, and etiology.
Adv Neurol
01/01/1991
Sensory neuropathy as the initial manifestation of primary biliary cirrhosis.
J Neurol Neurosurg Psychiatry
01/11/1989
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
15/12/2020
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Neurobiol Aging
01/08/2020
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Neurobiol Aging
01/08/2020
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
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurol Neuroimmunol Neuroinflamm
25/06/2020
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurol Neuroimmunol Neuroinflamm
25/06/2020
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
Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study.
J Neurol Neurosurg Psychiatry
01/02/2020
Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study.
J Neurol Neurosurg Psychiatry
01/02/2020
Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis.
Qual Life Res
01/08/2019
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.
Neurol Neuroimmunol Neuroinflamm
24/07/2019
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.
Neurol Neuroimmunol Neuroinflamm
24/07/2019
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
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
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
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.
Ann Clin Transl Neurol
26/03/2018
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/01/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/01/2016
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.
Neurol Neuroimmunol Neuroinflamm
03/09/2015
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.
Neurol Neuroimmunol Neuroinflamm
03/09/2015
Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.
J Peripher Nerv Syst
01/09/2015
Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.
J Peripher Nerv Syst
01/09/2015
Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.
J Peripher Nerv Syst
01/09/2015
Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.
J Peripher Nerv Syst
01/09/2015
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
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Int J Biochem Cell Biol
01/08/2013
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
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.
J Peripher Nerv Syst
01/06/2012
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
J Neuropathol Exp Neurol
01/06/2010
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
J Neuropathol Exp Neurol
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
Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
Proteomics Clin Appl
01/04/2009
Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
Proteomics Clin Appl
01/04/2009
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscul Disord
01/12/2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscul Disord
01/12/2008
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
J Neurol Neurosurg Psychiatry
01/02/2008
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
J Neurol Neurosurg Psychiatry
01/02/2008
Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome.
Nat Clin Pract Neurol
01/07/2007
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
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
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
Anti-titin antibodies are not associated with a specific thymoma histology.
J Neurol Neurosurg Psychiatry
01/02/2003
Anti-titin antibodies are not associated with a specific thymoma histology.
J Neurol Neurosurg Psychiatry
01/02/2003
Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance.
J Neuroimmunol
01/11/2001
Chronic idiopathic sensory ataxic neuropathy: immunological aspects of a series of 17 patients.
Rev Neurol (Paris)
01/05/2001
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
15/12/2020
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Neurobiol Aging
01/08/2020
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.
Neurobiol Aging
01/08/2020
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
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurol Neuroimmunol Neuroinflamm
25/06/2020
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurol Neuroimmunol Neuroinflamm
25/06/2020
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
Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study.
J Neurol Neurosurg Psychiatry
01/02/2020
Original research: Second IVIg course in Guillain-Barré syndrome with poor prognosis: the non-randomised ISID study.
J Neurol Neurosurg Psychiatry
01/02/2020
Correction to: Eculizumab improves fatigue in refractory generalized myasthenia gravis.
Qual Life Res
01/08/2019
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.
Neurol Neuroimmunol Neuroinflamm
24/07/2019
Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child.
Neurol Neuroimmunol Neuroinflamm
24/07/2019
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
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
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
Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.
Ann Clin Transl Neurol
26/03/2018
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/01/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/01/2016
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.
Neurol Neuroimmunol Neuroinflamm
03/09/2015
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.
Neurol Neuroimmunol Neuroinflamm
03/09/2015
Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.
J Peripher Nerv Syst
01/09/2015
Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar.
J Peripher Nerv Syst
01/09/2015
Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.
J Peripher Nerv Syst
01/09/2015
Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses.
J Peripher Nerv Syst
01/09/2015
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
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Int J Biochem Cell Biol
01/08/2013
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
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.
J Peripher Nerv Syst
01/06/2012
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
J Neuropathol Exp Neurol
01/06/2010
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.
J Neuropathol Exp Neurol
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
Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
Proteomics Clin Appl
01/04/2009
Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients.
Proteomics Clin Appl
01/04/2009
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscul Disord
01/12/2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscul Disord
01/12/2008
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
J Neurol Neurosurg Psychiatry
01/02/2008
Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
J Neurol Neurosurg Psychiatry
01/02/2008
Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome.
Nat Clin Pract Neurol
01/07/2007
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
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
In vivo and in vitro dysferlin expression in human muscle satellite cells.
J Neuropathol Exp Neurol
01/10/2004
Anti-titin antibodies are not associated with a specific thymoma histology.
J Neurol Neurosurg Psychiatry
01/02/2003
Anti-titin antibodies are not associated with a specific thymoma histology.
J Neurol Neurosurg Psychiatry
01/02/2003
Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance.
J Neuroimmunol
01/11/2001
Chronic idiopathic sensory ataxic neuropathy: immunological aspects of a series of 17 patients.
Rev Neurol (Paris)
01/05/2001