List of works - Eduard Gallardo

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

scientific article

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

scientific article

A new phenotype of dysferlinopathy with congenital onset.

scientific article

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

scientific article published on 16 May 2006

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

scientific article

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

scientific article published on 01 January 2002

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

scientific article

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

scientific article

Acute axonal Guillain‐Barré syndrome with IgG antibodies against motor axons following parenteral gangliosides ⬇️

scientific article published on August 1, 1995

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

scientific article published on 29 April 2014

Analysis of serum miRNA profiles of myasthenia gravis patients.

scientific article

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

scientific article published on 09 February 2012

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

scientific article published on 17 March 2008

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 31 October 2017

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

scientific article published on 01 July 2007

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy

scientific article published on 31 December 2012

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

scientific article published on 01 June 2001

Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy

scientific article published on 01 November 2002

Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance

scientific article published on 01 November 2001

Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.

scientific article

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal

scientific article published on 2 September 2009

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

scientific article published on 01 December 2005

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

scientific article published in July 2008

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

scientific article published on 5 July 2016

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

scientific article published on 01 June 2012

Comment to "Role of Toll-like receptors and retinoic acid inducible gene I in endogenous production of type I interferon in dermatomyositis".

scientific article published on 18 December 2015

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

scientific article

Cortactin autoantibodies in myasthenia gravis.

scientific article published on 3 September 2014

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

scientific article published in June 2014

Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression.

scientific article

Diagnóstico de la enfermedad de CADASIL en pacientes normotensos y no diabéticos con infarto lacunar

scientific article published on 22 February 2011

Disferlinopatía, una causa de falsa polimiositis refractaria

scientific article published on 07 February 2015

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

scientific article (publication date: 2001)

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

article

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

scientific article published on 19 June 2013

Dysferlin regulates cell adhesion in human monocytes.

scientific article

Gene expression profiling in limb-girdle muscular dystrophy 2A

scientific article

Genetic and epigenetic determinants of low dysferlin expression in monocytes

scientific article published on 24 June 2014

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

scientific article published on 17 August 2017

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

scientific article published in August 2005

Identification of novel GH-regulated genes in C2C12 cells

scientific article

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.

scientific article

IgM monoclonal antibody against terminal moiety of GM2, GalNAc-GD1a and GalNAc-GM1b from a pure motor chronic demyelinating polyneuropathy patient: effects on neurotransmitter release.

scientific article published in September 2001

Inclusion body myositis and paraproteinemia: Incidence and immunopathologic correlations

scientific article published on 01 January 1997

Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice

scientific article

Limb-girdle muscular dystrophy 2A.

scientific article published on January 2011

Long-lasting treatment effect of rituximab in MuSK myasthenia.

scientific article

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

scientific article published on 01 June 2005

Mild cholesterol depletion reduces amyloid-beta production by impairing APP trafficking to the cell surface

scientific article published on 27 April 2009

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

scientific article

Muscle MRI in muscular dystrophies

scientific article published on December 2015

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

scientific article published on 22 October 2015

Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

scientific article published on 17 February 2006

Myasthenia gravis coincident with papillary thyroid carcinoma: absent expression of the ?-subunit of the acetylcholine receptor in the tumour

scientific article published on 01 July 1995

Neuromuscular dysfunction in adult growth hormone deficiency

scientific article published on 01 October 2003

PDGF-BB serum levels are decreased in adult onset Pompe patients

scientific article published in Scientific Reports

Paraproteinemic neuropathies

scientific article published on 22 April 2013

Peripheral neuropathy associated with anti-GM2 ganglioside antibodies: clinical and immunopathological studies.

scientific article

Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies

scientific article published on 01 November 2011

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

scientific article

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients

scientific article published on 9 March 2009

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

scientific article published on 18 July 2018

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

scientific article published on 23 June 2010

Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient

scientific article published on 01 March 2009

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

scientific article published on 3 September 2015

Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.

scientific article published in June 2010

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

scientific article

Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.

scientific article published on 22 May 2014

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

scientific article published on 01 July 2006

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

scientific article published on 23 July 2008

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

article

Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease

scientific article published in June 2016

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo

scientific article published on 5 October 2012

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

scientific article published on 06 March 2020

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

scientific article

Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo

scientific article published on 01 March 2001

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

scientific article published on 9 September 2005

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

scientific article published on 01 July 2005

[Antiganglioside antibodies in neuropathies and motor neuronopathies]

scientific article published on 01 December 1996

[Relevant antibodies in dysimmune neuropathies]

scientific article published on 01 March 2000

List of works by Eduard Gallardo

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

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

A new phenotype of dysferlinopathy with congenital onset.

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

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

Absence of dysferlin alters myogenin expression and delays human muscle differentiation "in vitro".

Acute axonal Guillain‐Barré syndrome with IgG antibodies against motor axons following parenteral gangliosides ⬇️

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

Analysis of serum miRNA profiles of myasthenia gravis patients.

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

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

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

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy

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

Antidisialosyl antibodies in chronic idiopathic ataxic neuropathy

Antiganglioside antibodies in acute self-limiting ataxic neuropathy: incidence and significance

Bone marrow transplantation in dysferlin-deficient mice results in a mild functional improvement.

Bulbar involvement in patients with antiganglioside antibodies against NeuNAc(alpha2-3)Gal

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

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

Comment to "Role of Toll-like receptors and retinoic acid inducible gene I in endogenous production of type I interferon in dermatomyositis".

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

Cortactin autoantibodies in myasthenia gravis.

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

Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression.

Diagnóstico de la enfermedad de CADASIL en pacientes normotensos y no diabéticos con infarto lacunar

Disferlinopatía, una causa de falsa polimiositis refractaria

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

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

Dysferlin interacts with calsequestrin-1, myomesin-2 and dynein in human skeletal muscle.

Dysferlin regulates cell adhesion in human monocytes.

Gene expression profiling in limb-girdle muscular dystrophy 2A

Genetic and epigenetic determinants of low dysferlin expression in monocytes

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis.

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

Identification of novel GH-regulated genes in C2C12 cells

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.

IgM monoclonal antibody against terminal moiety of GM2, GalNAc-GD1a and GalNAc-GM1b from a pure motor chronic demyelinating polyneuropathy patient: effects on neurotransmitter release.

Inclusion body myositis and paraproteinemia: Incidence and immunopathologic correlations

Inhibition of inflammation with celastrol fails to improve muscle function in dysferlin-deficient A/J mice

Limb-girdle muscular dystrophy 2A.

Long-lasting treatment effect of rituximab in MuSK myasthenia.

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

Mild cholesterol depletion reduces amyloid-beta production by impairing APP trafficking to the cell surface

Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.

Muscle MRI in muscular dystrophies

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

Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

Myasthenia gravis coincident with papillary thyroid carcinoma: absent expression of the ?-subunit of the acetylcholine receptor in the tumour

Neuromuscular dysfunction in adult growth hormone deficiency

PDGF-BB serum levels are decreased in adult onset Pompe patients

Paraproteinemic neuropathies

Peripheral neuropathy associated with anti-GM2 ganglioside antibodies: clinical and immunopathological studies.

Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Proteomics identification of differentially expressed proteins in the muscle of dysferlin myopathy patients

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

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.

Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy.

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

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

Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo

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

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

Urokinase-dependent plasminogen activation is required for efficient skeletal muscle regeneration in vivo

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization