Un any més, el Curs de Formació en malalties neuromusculars “Professora Isabel Illa” està preparat per començar, oferint una oportunitat única d’aprenentatge a través d’experts de reconegut prestigi a nivell nacional i internacional.
Un any més, el Curs de Formació en malalties neuromusculars “Professora Isabel Illa” està preparat per començar, oferint una oportunitat única d’aprenentatge a través d’experts de reconegut prestigi a nivell nacional i internacional.
Article Complet
En el marc del Dia Mundial contra l’ELA, el 20 de juny a les 12 h tindrà lloc al Recinte Modernista de Sant Pau un acte protagonitzat per Juan Carlos Unzué en el que l’exporter del FCB, afectat per Esclerosi Lateral Amiotròfica, parlarà sobre la malaltia i les seves afectacions amb el Dr. Ricard Rojas, neuròleg i coordinador de la Unitat Funcional d’ELA de Sant Pau.
En el marc del Dia Mundial contra l’ELA, el 20 de juny a les 12 h tindrà lloc al Recinte Modernista de Sant Pau un acte protagonitzat per Juan Carlos Unzué en el que l’exporter del FCB, afectat per Esclerosi Lateral Amiotròfica, parlarà sobre la malaltia i les seves afectacions amb el Dr. Ricard Rojas, neuròleg i coordinador de la Unitat Funcional d’ELA de Sant Pau.
Article Complet
La Unitat de Malalties Neuromusculars de l’Hospital de Santa Creu i Sant Pau convoca la primera Fellowship “Professora Isabel Illa” de formació en Malalties Neuromusculars
La Unitat de Malalties Neuromusculars de l’Hospital de Santa Creu i Sant Pau convoca la primera Fellowship “Professora Isabel Illa” de formació en Malalties Neuromusculars
Article Complet
La Unitat de Malalties Neuromusculars de l’Hospital de Santa Creu i Sant Pau acaba de publicar un nou article
La Unitat de Malalties Neuromusculars de l’Hospital de Santa Creu i Sant Pau acaba de publicar un nou article
Article Complet
Com cada any, el curs de malalties neuromusculars que es farà el 24, 25 i 26 de maig a l’Hospital de Sant Pau, reunirà professionals interessats en la patologia neuromuscular.
Com cada any, el curs de malalties neuromusculars que es farà el 24, 25 i 26 de maig a l’Hospital de Sant Pau, reunirà professionals interessats en la patologia neuromuscular.
Article Complet
Com cada any, el curs de malalties neuromusculars que es farà el 25, 26 i 27 de maig a l’Hospital de Sant Pau, reunirà professionals interessats en la patologia neuromuscular.
Durant tres dies intensos es faran classes sobre els grans grups de patologia neuromuscular. Aquestes classes són realitzades per experts nacionals i internacionals en cada tema. Els tallers es faran a la tarda, aprofundint en aspectes més tècnics i proves diagnòstiques fonamentals en aquestes patologies.
Com cada any, el curs de malalties neuromusculars que es farà el 25, 26 i 27 de maig a l’Hospital de Sant Pau, reunirà professionals interessats en la patologia neuromuscular.
Durant tres dies intensos es faran classes sobre els grans grups de patologia neuromuscular. Aquestes classes són realitzades per experts nacionals i internacionals en cada tema. Els tallers es faran a la tarda, aprofundint en aspectes més tècnics i proves diagnòstiques fonamentals en aquestes patologies.
Article Complet
20
Mar
2022
Des de la Unitat de Malalties Neuromusculars de l’Hospital de Sant Pau lamentem comunicar-vos la trista notícia de la mort de la Dra Isabel Illa, fundadora i Directora de la Unitat, Catedràtica de Neurologia, pionera en el camp de les malalties neuromusculars al nostre país, mestra i mentora de molts de nosaltres. DEP.
Des de la Unitat de Malalties Neuromusculars de l’Hospital de Sant Pau lamentem comunicar-vos la trista notícia de la mort de la Dra Isabel Illa, fundadora i Directora de la Unitat, Catedràtica de Neurologia, pionera en el camp de les malalties neuromusculars al nostre país, mestra i mentora de molts de nosaltres. DEP.
Article Complet
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.
Article Complet
La Dra. Lorena Martín Aguilar, investigadora del Grup de Malalties Neuromusculars de l’Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, ha estat reconeguda amb el Premi Richard A.C. Hughes en el marc de la reunió anual de la Peripheral Nerve Society.
La Dra. Lorena Martín Aguilar, investigadora del Grup de Malalties Neuromusculars de l’Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, ha estat reconeguda amb el Premi Richard A.C. Hughes en el marc de la reunió anual de la Peripheral Nerve Society.
Article Complet
El passat divendres 28 de maig va concloure la IX edició del Curs de Malalties Neuromusculars impulsat per la Unitat de Malalties Neuromusculars de l’Hospital de la Santa Creu i Sant Pau i que compta cada any amb la col·laboració de grans professionals d’arreu d’España en aquest camp de malalties. Un curs on els assistents profunditzen de forma intensa en els coneixements d’aquestes malalties a través de classes tant teòriques com pràctiques.
El passat divendres 28 de maig va concloure la IX edició del Curs de Malalties Neuromusculars impulsat per la Unitat de Malalties Neuromusculars de l’Hospital de la Santa Creu i Sant Pau i que compta cada any amb la col·laboració de grans professionals d’arreu d’España en aquest camp de malalties. Un curs on els assistents profunditzen de forma intensa en els coneixements d’aquestes malalties a través de classes tant teòriques com pràctiques.
Article Complet
Qui som
Equip Clínic
Equip Recerca
Ricard Rojas García
MD PhD – Neuròleg Adjunt
Neuròleg
Luis Querol Gutiérrez
MD PhD – Neuròleg Adjunt
Neuròleg
Janina Turon i Sans
Neurofisióloga adjunta
Neurofisióloga adjunta
Elena Cortés Vicente
Neuròloga - Investigadora Postdoctoral
Neuròloga
Elba Pascual Goñi
Neuròloga i investigadora postdoctoral
Neuròloga i investigadora postdoctoral
Lorena Martín Aguilar
Neuròloga - Investigadora postdoctoral
Neuròloga - Investigadora postdoctoral
Ana Vesperinas Castro
Neuròloga - Investigadora predoctoral
Neuròloga - Investigadora predoctoral
Marta Caballero Ávila
Neuròloga - Investigadora predoctoral
Neuròloga - Investigadora predoctoral
Álvaro Carbayo Viejo
Neuròleg - Investigador predoctoral
Neuròleg - Investigador predoctoral
Laura Llansó Caldentey
Neuròloga - Investigadora predoctoral
Neuròloga - Investigadora predoctoral
Manuel Cabezas Torres
Infermer gestor de casos
Infermer gestor de casos
Eduard Gallardo Vigo
PhD - Investigador Sènior
Investigador Sènior
Jordi Díaz Manera
MD PhD - Investigador col·laborador
Investigador col·laborador
Cinta Lleixà
Investigadora pre-doctoral
Investigadora pre-doctoral
Núria Vidal Fernández
Infermera - Coordinació d'assaigs clínics
Infermera - Coordinació d'assaigs clínics
Clara Tejada Illa
Bioquímica
Bioquímica
Carmen Martínez Bernal
Tècnica de laboratori
Tècnica de laboratori
Rosa Blanco Soto
Tècnica de laboratori
Tècnica de laboratori
Publicacions
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy.
Front Cell Dev Biol
09/07/2024
Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD.
J Neurol Neurosurg Psychiatry
17/06/2024
Membrane Proteome-Wide Screening of Autoantibodies in CIDP Using Human Cell Microarray Technology.
Neurol Neuroimmunol Neuroinflamm
01/05/2024
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Neurologia (Engl Ed)
01/03/2024
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
01/01/2024
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.
Neuromuscul Disord
01/01/2024
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
J Neurol Neurosurg Psychiatry
14/12/2023
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
01/12/2023
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
J Oncol Pharm Pract
01/06/2023
Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis.
Brain Commun
04/04/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
01/04/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
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
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Muscle Nerve
01/10/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
10/08/2022
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia.
Neuromuscul Disord
01/08/2022
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
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
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
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
Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
01/03/2020
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
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
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
Individualized immunoglobulin therapy in chronic immune-mediated peripheral neuropathies.
J Peripher Nerv Syst
01/06/2018
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
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
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
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.
J Neuroimmunol
15/02/2016
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
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
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
["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
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
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
01/01/2024
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
J Neurol Neurosurg Psychiatry
14/12/2023
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
J Neurol Neurosurg Psychiatry
14/12/2023
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
J Oncol Pharm Pract
01/06/2023
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
J Oncol Pharm Pract
01/06/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
01/04/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
01/04/2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Neuromuscul Disord
01/02/2023
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Muscle Nerve
01/10/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
10/08/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
10/08/2022
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia.
Neuromuscul Disord
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
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
02/11/2021
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
Novel Immunological and Therapeutic Insights in Guillain-Barré Syndrome and CIDP.
Neurotherapeutics
01/10/2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Neuromuscul Disord
01/08/2021
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
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Front Neurol
08/07/2021
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
Perception of Stigma in Patients with Neuromyelitis Optica Spectrum Disorder.
Patient Prefer Adherence
12/04/2021
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
01/03/2021
246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands.
Neuromuscul Disord
01/02/2021
Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.
J Neurol Neurosurg Psychiatry
05/11/2020
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
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
Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
01/03/2020
Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
01/03/2020
Pain and the immune system: emerging concepts of IgG-mediated autoimmune pain and immunotherapies.
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
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
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
01/05/2019
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
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
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
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
Individualized immunoglobulin therapy in chronic immune-mediated peripheral neuropathies.
J Peripher Nerv Syst
01/06/2018
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
01/01/2018
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
01/01/2018
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/10/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/10/2016
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
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
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
J Inherit Metab Dis
01/03/2015
Comprehensive care of amyotrophic lateral sclerosis patients: a care model.
Arch Bronconeumol
01/12/2013
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
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Int J Biochem Cell Biol
01/08/2013
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
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
Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients.
J Neuroimmunol
15/09/2008
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
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
["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].
Med Clin (Barc)
18/06/2005
["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].
Med Clin (Barc)
18/06/2005
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Neuromuscul Disord
01/05/2004
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Neuromuscul Disord
01/05/2004
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Neuromuscul Disord
01/01/2024
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
J Neurol Neurosurg Psychiatry
14/12/2023
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
J Neurol Neurosurg Psychiatry
14/12/2023
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
J Oncol Pharm Pract
01/06/2023
Incidence and management of patients with methotrexate delayed elimination in the clinical practice: A Delphi study.
J Oncol Pharm Pract
01/06/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
01/04/2023
A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness.
Neuromuscul Disord
01/04/2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Neuromuscul Disord
01/02/2023
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Muscle Nerve
01/10/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
10/08/2022
IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
10/08/2022
Rituximab in myasthenia gravis: efficacy, associated infections and risk of induced hypogammaglobulinemia.
Neuromuscul Disord
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
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Neurol Neuroimmunol Neuroinflamm
02/11/2021
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
Novel Immunological and Therapeutic Insights in Guillain-Barré Syndrome and CIDP.
Neurotherapeutics
01/10/2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Neuromuscul Disord
01/08/2021
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
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Front Neurol
08/07/2021
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
Perception of Stigma in Patients with Neuromyelitis Optica Spectrum Disorder.
Patient Prefer Adherence
12/04/2021
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
J Peripher Nerv Syst
01/03/2021
246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands.
Neuromuscul Disord
01/02/2021
Serum neurofilament light chain predicts long-term prognosis in Guillain-Barré syndrome patients.
J Neurol Neurosurg Psychiatry
05/11/2020
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
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
Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
01/03/2020
Boundaries of chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
01/03/2020
Pain and the immune system: emerging concepts of IgG-mediated autoimmune pain and immunotherapies.
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
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
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
01/05/2019
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
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
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
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Ann Clin Transl Neurol
14/04/2018
Individualized immunoglobulin therapy in chronic immune-mediated peripheral neuropathies.
J Peripher Nerv Syst
01/06/2018
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
01/01/2018
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
01/01/2018
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/10/2016
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/10/2016
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
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
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
J Inherit Metab Dis
01/03/2015
Comprehensive care of amyotrophic lateral sclerosis patients: a care model.
Arch Bronconeumol
01/12/2013
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
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Int J Biochem Cell Biol
01/08/2013
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
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
Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients.
J Neuroimmunol
15/09/2008
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
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
["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].
Med Clin (Barc)
18/06/2005
["Seronegative" myasthenia gravis and antiMuSK positive antibodies: description of Spanish series].
Med Clin (Barc)
18/06/2005
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Neuromuscul Disord
01/05/2004
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
Neuromuscul Disord
01/05/2004
📢We have identified a new ALS-causing gene (ARPP21) in 10 patients from 7 unrelated families, all sharing the p.P529L mutation. 🎆Check out our latest publication at @JNNP_BMJ @IRSantPau @Uri713 @NMDSantPau #endALS @neurosantpau @FUNDELA1 🧵1/3
Un estudi publicat a la revista científica @NatureMedicine ha identificat el primer biomarcador que ajuda a detectar la #demència frontotemporal (DFT)🏥🔬
🌟 Investigadors del grup de Neurobiologia de les Demències i la Unitat de #Memòria de l'Institut de Recerca de Sant Pau,
‼️This might be a new hallmark for diagnostic biomarkers in the #ALS-#FTD spectrum‼️
📝🫱🏾🫲🏿 Check out our latest collaborative work in @NatureMedicine, lead by the Bonn group 🇩🇪
👇🏿👇🏿 Full text
#AmyotrophicLateralSclerosis
#FrontotemporalDementia