The Neuromuscular Diseases Unit of the Hospital de la Santa Creu i Sant Pau has just published a new article
The Neuromuscular Diseases Unit of the Hospital de la Santa Creu i Sant Pau has just published a new article
Artículo Completo
Dr Lorena Martín Aguilar, researcher of the Neuromuscular Diseases Group of the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, has been recognized with the Richard A.C. Hughes Award at the annual meeting of the Peripheral Nerve Society.
Dr Lorena Martín Aguilar, researcher of the Neuromuscular Diseases Group of the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau, has been recognized with the Richard A.C. Hughes Award at the annual meeting of the Peripheral Nerve Society.
Artículo Completo
After a first week of theoretical learning, the first streaming session was held on Friday 14th May, where students were able to interact live with professionals in Neuromuscular Diseases.
After a first week of theoretical learning, the first streaming session was held on Friday 14th May, where students were able to interact live with professionals in Neuromuscular Diseases.
Artículo Completo
On the occasion of the National Day of Myasthenia Gravis, the Association of AMES patients has organized a series of informative activities to give visibility to this disease.
Myasthenia gravis (MG) is a rare neuromuscular disease characterized by patients having fatigability and weakness of the voluntary muscles. Weakness can affect any muscle including eye, limb, and vital muscles, responsible for respiratory function, swallowing, and phonation.
On the occasion of the National Day of Myasthenia Gravis, the Association of AMES patients has organized a series of informative activities to give visibility to this disease.
Myasthenia gravis (MG) is a rare neuromuscular disease characterized by patients having fatigability and weakness of the voluntary muscles. Weakness can affect any muscle including eye, limb, and vital muscles, responsible for respiratory function, swallowing, and phonation.
Artículo Completo
Eduard Gallardo has been appointed group leader of the U762 CIBERER at the Hospital de Sant Pau in Barcelona to replace Isabel Illa. This research team is specialized in neuromuscular diseases.
Dr. Gallardo has been working since 1993 in the field of non-immune neuropathies, myasthenia, inflammatory myopathies and muscular dystrophies, and more specifically in dysferlinopathies. He has more than 100 publications (PubMed) in the field of neuromuscular diseases and has been principal investigator of 12 research projects.
Eduard Gallardo has been appointed group leader of the U762 CIBERER at the Hospital de Sant Pau in Barcelona to replace Isabel Illa. This research team is specialized in neuromuscular diseases.
Dr. Gallardo has been working since 1993 in the field of non-immune neuropathies, myasthenia, inflammatory myopathies and muscular dystrophies, and more specifically in dysferlinopathies. He has more than 100 publications (PubMed) in the field of neuromuscular diseases and has been principal investigator of 12 research projects.
Artículo Completo
Due to the global health alert that exists these days in the face of the SARS-COV2 pandemic, a group of world experts in Myasthenia Gravis has developed a document of recommendations for patients and doctors. In the attached document you will find general recommendations for patients with Myasthenia Gravis and Eaton-Lambert Syndrome, indications for starting treatment and for patients in a clinical trial.
Due to the global health alert that exists these days in the face of the SARS-COV2 pandemic, a group of world experts in Myasthenia Gravis has developed a document of recommendations for patients and doctors. In the attached document you will find general recommendations for patients with Myasthenia Gravis and Eaton-Lambert Syndrome, indications for starting treatment and for patients in a clinical trial.
Artículo Completo
The Association of Patients AMES (Myasthenia Association of Spain) together with the Unit of Neuromuscular Diseases will celebrate, on the occasion of Rare Disease Day the XIII National Congress of Myasthenia Gravis. This meeting will take place on February 28 and 29 in the auditorium of the Hospital de Sant Pau. For two days myasthenia gravis neurologists, psychologists and patients will gather to share knowledge and experiences.
The Association of Patients AMES (Myasthenia Association of Spain) together with the Unit of Neuromuscular Diseases will celebrate, on the occasion of Rare Disease Day the XIII National Congress of Myasthenia Gravis. This meeting will take place on February 28 and 29 in the auditorium of the Hospital de Sant Pau. For two days myasthenia gravis neurologists, psychologists and patients will gather to share knowledge and experiences.
Artículo Completo
The IX course will be held on May 13-14 and 15 at the Hospital de la Santa Creu and Sant Pau.
As in previous editions, the number of places will be limited to a maximum of 30. The selection of the candidates will be carried out, first, according to the years of experience (specialist have priority over residents) and second depending on the number of registrations of each center (we will prioritize diversity of centers). If there are very similar registration applications we will value the future interest in the field and, if there is no possible way to carry out this evaluation, the remaining places will be raffled off.
The IX course will be held on May 13-14 and 15 at the Hospital de la Santa Creu and Sant Pau.
As in previous editions, the number of places will be limited to a maximum of 30. The selection of the candidates will be carried out, first, according to the years of experience (specialist have priority over residents) and second depending on the number of registrations of each center (we will prioritize diversity of centers). If there are very similar registration applications we will value the future interest in the field and, if there is no possible way to carry out this evaluation, the remaining places will be raffled off.
Artículo Completo
As every year the Spanish Society of Neurology (SEN) holds its annual meeting from November 19 to 23, this year repeating headquarters in Seville.
The Neuromuscular Diseases Unit of the Hospital de Sant Pau, presents a series of studies carried out in the different lines of research developed by the unit. The presentations will be done by the unit’s facultative who will present studies carried out within the doctoral thesis project.
As every year the Spanish Society of Neurology (SEN) holds its annual meeting from November 19 to 23, this year repeating headquarters in Seville.
The Neuromuscular Diseases Unit of the Hospital de Sant Pau, presents a series of studies carried out in the different lines of research developed by the unit. The presentations will be done by the unit’s facultative who will present studies carried out within the doctoral thesis project.
Artículo Completo
01
Oct
2019
As every year the World Muscle Society holds its annual congress on 1-5 October in Conpenhagen.
The Neuromuscular Diseases Unit of the Hospital de Sant Pau presents three studies related to muscular dystrophies. The presentations will be given by the pre-doctoral student Dr. Jorge Alonso, who will present three scientific posters of studies directed by Dr. Jordi Díaz.
As every year the World Muscle Society holds its annual congress on 1-5 October in Conpenhagen.
The Neuromuscular Diseases Unit of the Hospital de Sant Pau presents three studies related to muscular dystrophies. The presentations will be given by the pre-doctoral student Dr. Jorge Alonso, who will present three scientific posters of studies directed by Dr. Jordi Díaz.
Artículo Completo
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Equipo Clínico
Equipo Investigación
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Ricard Rojas García
MD PhD – Adjunct Neurologist
Neurologist
Janina Turon i Sans
Adjunct neurophysiologist
Adjunct neurophysiologist
Luis Querol Gutiérrez
MD PhD – Attending Neurologist
Neurologist
Elena Cortés Vicente
Neurologist – Post-doctoral researcher
Neurologist
Elba Pascual Goñi
Neurologist - Postdoctoral researcher
Neurologist - Postdoctoral researcher
Lorena Martín Aguilar
Neurologist - Postdoctoral researcher
Neurologist - Postdoctoral researcher
Ana Vesperinas Castro
Neurologist - Predoctoral researcher
Neurologist - Predoctoral researcher
Marta Caballero Ávila
Neurologist – Predoctoral researcher
Neurologist – Predoctoral researcher
Laura Llansó Caldentey
Neurologist - Predoctoral Researcher
Neurologist - Predoctoral Researcher
Manuel Cabezas Torres
Nurse case manager
Nurse case manager
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Eduard Gallardo Vigo
PhD - Senior Researcher
Senior Researcher
Jordi Díaz Manera
MD PhD - Research collaborator
Research collaborator
Cinta Lleixà
Pre-doctoral researcher
Pre-doctoral researcher
Núria Vidal Fernández
Nurse - Coordination of clinical trials
Nurse - Coordination of clinical trials
Clara Tejada Illa
Biochemistry
Biochemistry
Carmen Martinez Bernal
Laboratory technique
Laboratory technique
Rosa Blanco Soto
Laboratory technique
Laboratory technique
Publicaciones
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
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
01/12/2023
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
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
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
01/05/2022
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
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
246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands.
Neuromuscul Disord
01/02/2021
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
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
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
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
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
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
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
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Membrane Proteome-Wide Screening of Autoantibodies in CIDP Using Human Cell Microarray Technology.
Neurol Neuroimmunol Neuroinflamm
01/05/2024
Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD.
J Neurol Neurosurg Psychiatry
10/02/2024
Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD.
J Neurol Neurosurg Psychiatry
10/02/2024
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.
Neuromuscul Disord
01/01/2024
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
01/12/2023
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
01/12/2023
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
01/12/2023
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
01/12/2023
Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis.
Brain Commun
04/04/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
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
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
21/06/2022
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
21/06/2022
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
Membrane Proteome-Wide Screening of Autoantibodies in CIDP Using Human Cell Microarray Technology.
Neurol Neuroimmunol Neuroinflamm
01/05/2024
Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD.
J Neurol Neurosurg Psychiatry
10/02/2024
Excellent response to anti-CD38 therapy with daratumumab in a patient with severe refractory CANOMAD.
J Neurol Neurosurg Psychiatry
10/02/2024
Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.
Neuromuscul Disord
01/01/2024
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
01/12/2023
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Neuromuscul Disord
01/12/2023
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
01/12/2023
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
J Peripher Nerv Syst
01/12/2023
Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis.
Brain Commun
04/04/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
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
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
21/06/2022
Immune Response and Safety of SARS-CoV-2 mRNA-1273 Vaccine in Patients With Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
21/06/2022
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
📢 Ya queda poco para esta nueva edición del Curso Professora Isabel Illa de Formación de #EnfermedadesNeuromusculares del @HospitalSantPau
@neurosantpau
🖥️ Este año contamos con versión online, para lo cual sigue abierta la inscripción
👇🏼👇🏼
📢 Ya están abiertas las inscripciones al Curso de Formación de #EnfermedadesNeuromusculares del @HospitalSantPau @neurosantpau Profesora Isabel Illa.
🗓️ 22 al 24 mayo 2024
🖥️ Este año contaremos con una versión online, no os lo perdáis!
Inscripción👇🏿
http://www.neuromuscularbcn.org/docencia/formacion-de-enfermedades-neuromusculares/
📣📣📣 futuros residentes!!!
Jornada de Puertas Abiertas para Residentes 2024 del @HospitalSantPau
🗓️ 26 marzo
🕛 12:00 h
📍 Salón de Actos, bloque A, planta 3
ℹ️ https://tuit.cat/lT0Xo
Os esperamos 🤗🤗🤗
📢 Check out our latest publication in #N2 by Dr Marta Caballero on validation of human cell microarray technology in the search for unknown #antibodies in #CIDP. 🔬👩🏻🔬
@GreenJournal @AANmember
👇🏿👇🏿
El Dr. Gallardo, investigador en Malalties Neuromusculars, ha estat l'amfitrió del “F2F meeting OptiMyG”, una trobada que dona el tret de sortida al projecte sobre miastènia gravis, una malaltia autoimmune que causa debilitat als músculs voluntaris🔬
https://www.recercasantpau.cat/actualitat/trobada-sobre-miastenia-gravis-a-sant-pau/