La Unitat de Malalties Neuromusculars del Servei de Neurologia de l’Hospital de la Santa Creu i Sant Pau ha donat a conèixer el nom de la guanyadora del II Fellowship en Malalties Neuromusculars «Professora Isabel Illa». Aquest reconeixement, que té com a objectiu fomentar la formació i la recerca en l’àmbit de les malalties neuromusculars, ha estat atorgat enguany a la doctora Tania Mederer Fernández.
La Unitat de Malalties Neuromusculars del Servei de Neurologia de l’Hospital de la Santa Creu i Sant Pau ha donat a conèixer el nom de la guanyadora del II Fellowship en Malalties Neuromusculars «Professora Isabel Illa». Aquest reconeixement, que té com a objectiu fomentar la formació i la recerca en l’àmbit de les malalties neuromusculars, ha estat atorgat enguany a la doctora Tania Mederer Fernández.
Artículo Completo
Como otros años, el Curso de Formación en enfermedades neuromusculares «Profesora Isabel Illa» ofrece la posibilidad de realizar la formación de forma online.
Como otros años, el Curso de Formación en enfermedades neuromusculares «Profesora Isabel Illa» ofrece la posibilidad de realizar la formación de forma online.
Artículo Completo
Un altre any més, el Curs de Formació en Malalties Neuromusculars "Professora Isabel Illa" està preparat per iniciar, brindant una oportunitat excepcional d'aprenentatge de la ...
Un altre any més, el Curs de Formació en Malalties Neuromusculars "Professora Isabel Illa" està preparat per iniciar, brindant una oportunitat excepcional d'aprenentatge de la ...
Artículo Completo
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 ...
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 ...
Artículo Completo
19
Jun
2023
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 ...
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 ...
Artículo Completo
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 ...
Artículo Completo
La Unitat de Malalties Neuromusculars de l'Hospital de Santa Creu i Sant Pau acaba de publicar un nou article: Reduced Number of Thymoma CTLA4-Positive Cells ...
La Unitat de Malalties Neuromusculars de l'Hospital de Santa Creu i Sant Pau acaba de publicar un nou article: Reduced Number of Thymoma CTLA4-Positive Cells ...
Artículo Completo
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 ...
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 ...
Artículo Completo
18
Mai
2022
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 ...
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 ...
Artículo Completo
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 ...
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 ...
Artículo Completo
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
Juan Castilla Silgado
PhD-Investigador postdoctoral
PhD-Investigador postdoctoral
Núria Vidal Fernández
Infermera - Coordinació d'assaigs clínics
Infermera - Coordinació d'assaigs clínics
Clara Tejada Illa
Bioquímica
Bioquímica
Paula Llarch Cegarra
Bioquímica
Bioquímica
Carmen Martínez Bernal
Tècnica de laboratori
Tècnica de laboratori
Rosa Blanco Soto
Tècnica de laboratori
Tècnica de laboratori
Publicacions
Digital biomechanical assessment of gait in patients with peripheral neuropathies.
J Neuroeng Rehabil
13/07/2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Ann Clin Transl Neurol
01/07/2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.
J Neuromuscul Dis
18/06/2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.
Neurologia (Engl Ed)
01/06/2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.
J Cachexia Sarcopenia Muscle
01/06/2025
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Neurologia (Engl Ed)
01/04/2025
Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using (23)Na-MRI in Dysferlinopathy and Healthy Controls.
J Cachexia Sarcopenia Muscle
01/02/2025
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca(2+)-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathol Appl Neurobiol
01/02/2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
Rev Esp Cardiol (Engl Ed)
17/01/2025
The Discovery of Autoimmune Nodopathies and the Impact of IgG4 Antibodies in Autoimmune Neurology.
Neurol Neuroimmunol Neuroinflamm
01/01/2025
Tachypnea in response to hypoxemia decreases with age in older patients.
Geriatr Gerontol Int
01/11/2024
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
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
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
Digital biomechanical assessment of gait in patients with peripheral neuropathies.
J Neuroeng Rehabil
13/07/2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Ann Clin Transl Neurol
01/07/2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.
J Neuromuscul Dis
18/06/2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.
Neurologia (Engl Ed)
01/06/2025
Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.
J Cachexia Sarcopenia Muscle
01/06/2025
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.
Neurologia (Engl Ed)
01/04/2025
Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using (23)Na-MRI in Dysferlinopathy and Healthy Controls.
J Cachexia Sarcopenia Muscle
01/02/2025
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca(2+)-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy.
Neuropathol Appl Neurobiol
01/02/2025
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain.
Rev Esp Cardiol (Engl Ed)
17/01/2025
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
J Neurol
15/01/2025
The Discovery of Autoimmune Nodopathies and the Impact of IgG4 Antibodies in Autoimmune Neurology.
Neurol Neuroimmunol Neuroinflamm
01/01/2025
Tachypnea in response to hypoxemia decreases with age in older patients.
Geriatr Gerontol Int
01/11/2024
MRI for the diagnosis of limb girdle muscular dystrophies.
Curr Opin Neurol
01/10/2024
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
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
Clinical and pathophysiological implications of autoantibodies in autoimmune neuropathies.
Rev Neurol (Paris)
01/10/2023
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
Effect of monovalency on anti-contactin-1 IgG4.
Front Immunol
14/03/2023
Reduced Number of Thymoma CTLA4-Positive Cells Is Associated With a Higher Probability of Developing Myasthenia Gravis.
Neurol Neuroimmunol Neuroinflamm
25/01/2023
Profiling TREM2 expression in amyotrophic lateral sclerosis.
Brain Behav Immun
01/03/2023
Leptospirosis-induced acute acquired inflammatory neuropathy.
J Peripher Nerv Syst
01/03/2023
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
Mutation update for the ACTN2 gene.
Hum Mutat
01/12/2022
Water T2 could predict functional decline in patients with dysferlinopathy.
J Cachexia Sarcopenia Muscle
01/12/2022
Muscle MRI in McArdle Disease: A European Multicenter Observational Study.
Neurology
10/10/2022
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
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
Autoantibody screening in Guillain-Barré syndrome.
J Neuroinflammation
01/11/2021
[Fifteen years of enzyme therapy in Pompe disease].
Rev Neurol
01/11/2021
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
Charcot-Marie-Tooth disease due to MORC2 mutations in Spain.
Eur J Neurol
01/09/2021
Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.
Neuromuscul Disord
01/08/2021
Serum Contactin-1 in CIDP: A Cross-Sectional Study.
Neurol Neuroimmunol Neuroinflamm
20/07/2021
Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease.
Front Neurol
08/07/2021
Chronic inflammatory demyelinating polyneuropathy with hypertrophic nerves.
J Peripher Nerv Syst
01/06/2021
Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.
Eur J Neurol
01/06/2021
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
01/05/2021
Skeletal muscle magnetic resonance imaging in Pompe disease.
Muscle Nerve
01/05/2021
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
COVID-19-associated risks and effects in myasthenia gravis (CARE-MG).
Lancet Neurol
01/12/2020
Genotype-phenotype correlations in recessive titinopathies.
Genet Med
01/12/2020
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
The increasing role of muscle MRI to monitor changes over time in untreated and treated muscle diseases.
Curr Opin Neurol
01/10/2020
Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis.
Neurol Neuroimmunol Neuroinflamm
15/07/2020
COVID-19-associated ophthalmoparesis and hypothalamic involvement.
Neurol Neuroimmunol Neuroinflamm
25/06/2020
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles.
J Cachexia Sarcopenia Muscle
01/08/2020
Antibodies to nodal/paranodal proteins in paediatric immune-mediated neuropathy.
Neurol Neuroimmunol Neuroinflamm
02/06/2020
Longitudinal study on nerve ultrasound and corneal confocal microscopy in NF155 paranodopathy.
Ann Clin Transl Neurol
01/06/2020
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Neurol Neuroimmunol Neuroinflamm
06/03/2020
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Neurologia (Engl Ed)
01/04/2020
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
Absence of p.R50X Pygm read-through in McArdle disease cellular models.
Dis Model Mech
13/01/2020
Autoantibodies in immune-mediated inflammatory neuropathies.
Med Clin (Barc)
15/11/2019
MYO-MRI diagnostic protocols in genetic myopathies.
Neuromuscul Disord
01/11/2019
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
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Orphanet J Rare Dis
06/05/2019
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
PDGF-BB serum levels are decreased in adult onset Pompe patients.
Sci Rep
14/02/2019
Assessment of disease progression in dysferlinopathy: A 1-year cohort study.
Neurology
28/01/2019
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis.
J Neurol Sci
15/11/2018
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
J Neurol Neurosurg Psychiatry
01/11/2018
Ocular ptosis: differential diagnosis and treatment.
Curr Opin Neurol
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
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
Corpus callosum agenesis, myopathy and pinpoint pupils: consider Stormorken syndrome.
Eur J Neurol
01/02/2018
Diagnostic utility of cortactin antibodies in myasthenia gravis.
Ann N Y Acad Sci
01/01/2018
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
01/01/2018
Molecular characterization of congenital myasthenic syndromes in Spain.
Neuromuscul Disord
01/12/2017
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
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
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).
J Neurol
01/07/2017
Muscle MRI in neutral lipid storage disease (NLSD).
J Neurol
01/07/2017
Prevalence of myasthenia gravis in the Catalan county of Osona.
Neurologia
01/01/2017
Amyotrophic lateral sclerosis: A higher than expected incidence in people over 80 years of age.
Amyotroph Lateral Scler Frontotemporal Degener
01/10/2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Neurol Genet
04/08/2016
Compromised fidelity of B-cell tolerance checkpoints in AChR and MuSK myasthenia gravis.
Ann Clin Transl Neurol
27/04/2016
Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
J Neuromuscul Dis
27/05/2016
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
Muscle MRI in muscular dystrophies.
Acta Myol
01/12/2015
[Dysferlinopathy masquerading as a refractory polymyositis].
Med Clin (Barc)
06/11/2015
Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.
Neurol Neuroimmunol Neuroinflamm
03/09/2015
Paranodal and other autoantibodies in chronic inflammatory neuropathies.
Curr Opin Neurol
01/10/2015
The expanding field of IgG4-mediated neurological autoimmune disorders.
Eur J Neurol
01/08/2015
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
Cortactin autoantibodies in myasthenia gravis.
Autoimmun Rev
01/10/2014
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
J Hum Genet
01/08/2014
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.
J Pathol
01/07/2014
Analysis of serum miRNA profiles of myasthenia gravis patients.
PLoS One
17/03/2014
Comprehensive care of amyotrophic lateral sclerosis patients: a care model.
Arch Bronconeumol
01/12/2013
Myasthenia gravis and the neuromuscular junction.
Curr Opin Neurol
01/10/2013
Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.
Int J Biochem Cell Biol
01/08/2013
Paraproteinemic neuropathies.
Presse Med
01/06/2013
Dysferlin regulates cell adhesion in human monocytes.
J Biol Chem
17/05/2013
Amyotrophic lateral sclerosis in Catalonia: a population based study.
Amyotroph Lateral Scler Frontotemporal Degener
01/05/2013
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.
Ann Neurol
01/03/2013
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
Long-lasting treatment effect of rituximab in MuSK myasthenia.
Neurology
17/01/2012
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
Treatment strategies for myasthenia gravis.
Expert Opin Pharmacother
01/06/2009
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
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Neurology
17/04/2007
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
[Antiganglioside antibodies: when, which and for what].
Neurologia
01/08/2001
[Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome].
Med Clin (Barc)
02/06/2001
[Relevant antibodies in dysimmune neuropathies].
Rev Neurol
16/03/2000
[Therapeutic advances in neuromuscular diseases].
Neurologia
01/12/1999
[Antiganglioside antibodies in neuropathies and motor neuronopathies].
Neurologia
01/12/1996
