Lista de obras -

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

artículo científico publicado en 2012

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

artículo científico publicado en 2020

A novel antiganglioside specificity against terminal NeuNAc(alfa 2–3)Gal in acute bulbar palsy

scientific article published on 16 May 2006

ALS: A bucket of genes, environment, metabolism and unknown ingredients.

artículo científico publicado en 2016

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

artículo científico publicado en 2015

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

artículo científico publicado en 2014

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

artículo científico publicado en 2017

Analysis of serum miRNA profiles of myasthenia gravis patients.

artículo científico publicado en 2014

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

artículo científico publicado en 2015

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

article

Anti-ganglioside antibodies in patients with systemic lupus erythematosus and neurological manifestations

artículo científico publicado en 2012

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

artículo científico publicado en 2018

Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

artículo científico publicado en 2008

Antibodies against nodo-paranodal proteins are not present in genetic neuropathies

artículo científico publicado en 2020

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

artículo científico publicado en 2017

Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome

scientific article published on 01 July 2007

Anticuerpos anti-GQ1b: utilidad de su determinación en el diagnóstico del síndrome de Miller-Fisher

artículo científico publicado en 2001

Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy

scientific article published on 01 November 2002

Atypical phenotypes in titinopathies explained by second titin mutations

artículo científico publicado en 2014

Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.

artículo científico publicado en 2017

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum

scientific article published on 05 October 2018

Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies

scientific article published on 01 December 2005

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2013

Chronic neuropathy with IgM anti-ganglioside antibodies: lack of long term response to rituximab

scientific article published on 01 December 2003

Chronic sensorimotor polyradiculopathy with antibodies to P2: an electrophysiological and immunoproteomic analysis.

artículo científico publicado en 2008

Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

artículo científico publicado en 2016

Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies

artículo científico publicado en 2012

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

artículo científico publicado en 2011

Cortactin autoantibodies in myasthenia gravis.

artículo científico publicado en 2014

Cortical microstructure in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

scientific article published on 10 September 2020

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.

artículo científico publicado en 2014

Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis

artículo científico publicado en 2018

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia

artículo científico publicado en 2018

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

artículo científico publicado en 2017

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

article

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria

artículo científico publicado en 2017

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases

artículo científico publicado en 2018

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

artículo científico publicado en 2005

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

artículo científico publicado en 2001

Long-lasting treatment effect of rituximab in MuSK myasthenia.

artículo científico publicado en 2012

Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.

artículo científico publicado en 2013

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

artículo científico publicado en 2016

Mass spectrometry analysis of transthyretin (TTR) post-translational modifications (PTMs) in hereditary ATTR: a case-control Spanish experience.

artículo científico publicado en 2015

Miastenia gravis «seronegativa» y anticuerpos antiMuSK positivos: descripción de una serie española

artículo científico publicado en 2005

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

artículo científico publicado en 2015

Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry.

artículo científico publicado en 2015

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

artículo científico publicado en 2014

Neuromuscular dysfunction in adult growth hormone deficiency

scientific article published on 01 October 2003

Paraproteinemic neuropathies

artículo científico publicado en 2013

Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies

artículo científico publicado en 2011

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis

artículo científico publicado en 2017

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

artículo científico publicado en 2010

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient

artículo científico publicado en 2009

Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.

artículo científico publicado en 2015

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

artículo científico publicado en 2014

Steady remission of scleromyxedema 3 years after autologous stem cell transplantation: an in vivo and in vitro study

artículo científico publicado en 2006

Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients

artículo científico publicado en 2008

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

article

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

artículo científico publicado en 2018

The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy

article

The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.

artículo científico publicado en 2018

Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis

scientific article published on 06 March 2020

Transthyretin stabilization activity of the catechol--methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study

artículo científico publicado en 2019

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

artículo científico publicado en 2016

Treatment strategies for myasthenia gravis.

artículo científico publicado en 2009

Atención integral a pacientes con esclerosis lateral amiotrófica: un modelo asistencial ⬇️

artículo científico publicado el 26 de marzo de 2013

Lista de obras de

1α,25(OH)(2)-Vitamin D3 increases dysferlin expression in vitro and in a human clinical trial.

A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?

A novel antiganglioside specificity against terminal NeuNAc(alfa 2–3)Gal in acute bulbar palsy

ALS: A bucket of genes, environment, metabolism and unknown ingredients.

Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

Analysis of known amyotrophic lateral sclerosis and frontotemporal dementia genes reveals a substantial genetic burden in patients manifesting both diseases not carrying the C9orf72 expansion mutation

Analysis of serum miRNA profiles of myasthenia gravis patients.

Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

Anti-ganglioside antibodies in patients with systemic lupus erythematosus and neurological manifestations

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies.

Antibodies against disialosyl and terminal NeuNAc(α2-3)Gal ganglioside epitopes in acute relapsing sensory ataxic neuropathy

Antibodies against nodo-paranodal proteins are not present in genetic neuropathies

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome

Anticuerpos anti-GQ1b: utilidad de su determinación en el diagnóstico del síndrome de Miller-Fisher

Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy

Atypical phenotypes in titinopathies explained by second titin mutations

Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications.

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum

Central Nervous System Involvement in Hereditary Neuropathy With Liability to Pressure Palsies

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

Chronic neuropathy with IgM anti-ganglioside antibodies: lack of long term response to rituximab

Chronic sensorimotor polyradiculopathy with antibodies to P2: an electrophysiological and immunoproteomic analysis.

Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.

Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Cortactin autoantibodies in myasthenia gravis.

Cortical microstructure in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.

Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis

Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria

Effect of MAPK Inhibition on the Differentiation of a Rhabdomyosarcoma Cell Line Combined With CRISPR/Cas9 Technology: An In Vitro Model of Human Muscle Diseases

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

Long-lasting treatment effect of rituximab in MuSK myasthenia.

Long-term outcome in chronic inflammatory demyelinating polyneuropathy patients treated with intravenous immunoglobulin: a retrospective study.

Longitudinal epitope mapping in MuSK myasthenia gravis: implications for disease severity.

Mass spectrometry analysis of transthyretin (TTR) post-translational modifications (PTMs) in hereditary ATTR: a case-control Spanish experience.

Miastenia gravis «seronegativa» y anticuerpos antiMuSK positivos: descripción de una serie española

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Myasthenia gravis: descriptive analysis of life-threatening events in a recent nationwide registry.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

Neuromuscular dysfunction in adult growth hormone deficiency

Paraproteinemic neuropathies

Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies

RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient

Rituximab in treatment-resistant CIDP with antibodies against paranodal proteins.

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

Steady remission of scleromyxedema 3 years after autologous stem cell transplantation: an in vivo and in vitro study

Sustained response to Rituximab in anti-AChR and anti-MuSK positive Myasthenia Gravis patients

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy

The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.

Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis

Transthyretin stabilization activity of the catechol--methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study

Transthyretin-related hereditary amyloid polyneuropathy presenting with large fibre involvement and cardiomyopathy.

Treatment strategies for myasthenia gravis.

Atención integral a pacientes con esclerosis lateral amiotrófica: un modelo asistencial ⬇️