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Chapter
Autoantibodies in Neuromuscular Disorders
Autoimmune neuromuscular disorders are very heterogeneous both in their clinical presentation and their pathogenesis. The discovery of specific autoantibodies targeting the nicotinic acetylcholine receptor in ...
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Article
Open AccessAutoantibody screening in Guillain–Barré syndrome
Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain u...
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Article
Open AccessAuthor Correction: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessProteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes
Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies. Dysferlin is impli...
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Article
Open AccessDownregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which the pathophysiological mechanisms of motor neuron loss are not precisely clarified. Environmental and epigenetic mechanisms such as ...
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Article
Open AccessClinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy
Antibodies against myelin-associated glycoprotein (MAG) almost invariably appear in the context of an IgM monoclonal gammopathy associated neuropathy. Very few cases of anti-MAG neuropathy lacking IgM-monoclon...
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Article
Open AccessPDGF-BB serum levels are decreased in adult onset Pompe patients
Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human reco...
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Article
Open AccessQuantitative muscle MRI to follow up late onset Pompe patients: a prospective study
Late onset Pompe disease (LOPD) is a slow, progressive disorder characterized by skeletal and respiratory muscle weakness. Enzyme replacement therapy (ERT) slows down the progression of muscle symptoms. Reliab...
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Article
Open AccessNintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy
Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to ...
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Article
Open AccessAnti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15
The aim of the research is to study the human leukocyte antigen (HLA) class II allele frequencies in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with anti-neurofascin 155 (NF155...
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Article
Open AccessAntibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a heterogeneous disease in which diverse autoantibodies have been described but systematic screening has never been performed. Detection of C...
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Article
Autoantibodies in chronic inflammatory neuropathies: diagnostic and therapeutic implications
Discovery of the antigenic targets associated with nerve-specific autoimmune diseases is a crucial step in understanding their pathogenesis
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Article
Open AccessHypoxia triggers IFN-I production in muscle: Implications in dermatomyositis
Dermatomyositis is an inflammatory myopathy characterized by symmetrical proximal muscle weakness and skin changes. Muscle biopsy hallmarks include perifascicular atrophy, loss of intramuscular capillaries, pe...
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Article
Open AccessDistribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sect...
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Article
Open AccessRIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis
Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the evaluation of the muscle biopsy is of importance amon...
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Article
Open AccessImpaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report
Acquired partial lipodystrophy or Barraquer-Simons syndrome is a rare form of progressive lipodystrophy. The etiopathogenesis of adipose tissue atrophy in these patients is unknown.
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Article
Antibodies to AChR, MuSK and VGKC in a patient with myasthenia gravis and Morvan's syndrome
Background A 46-year-old woman presented to a local hospital with acute respiratory failure and a 2-year progressive history of fatigue, personality changes, increased sweating, dysphagia with substantial weight ...
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Article
Preface
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Article
A randomised controlled trial of intravenous immunoglobulin in IgM paraprotein associated demyelinating neuropathy
This multicentre randomised double blind crossover trial tested the short term efficacy of intravenous immunoglobulin (IVIg) 2.0 g/kg given over 24 or 48 hours in patients with paraproteinaemic demyelinating ...
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Article
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome (PAC) contig...
