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Treating myasthenia gravis beyond the eye clinic
Myasthenia gravis (MG) is one of the most well characterised autoimmune disorders affecting the neuromuscular junction with autoantibodies targeting...
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Receptor clustering and pathogenic complement activation in myasthenia gravis depend on synergy between antibodies with multiple subunit specificities
Myasthenia gravis is an autoimmune disorder defined by muscle weakness and fatigability associated with antibodies against proteins of the...
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Myasthenie bei Erwachsenen, Kindern und Jugendlichen – was ist neu?
Therapy of myasthenia gravis (MG) is increasingly oriented to the patient’s antibody status. In addition to symptomatic therapy, steroids, classic...
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Fatigue and associated factors in myasthenia gravis: a nationwide registry study
Fatigue is commonly associated with myasthenia gravis (MG), but factors contributing to fatigue development in MG are incompletely understood. This...
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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons
Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations...
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Update Myasthenia gravis
Myasthenia gravis and Lambert-Eaton myasthenic syndrome (LEMS) are chronic autoimmune neuromuscular transmission disorders. Since in the majority but...
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Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis
Inclusion body myositis (IBM) is unique across the spectrum of idiopathic inflammatory myopathies (IIM) due to its distinct clinical presentation and...
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A novel missense compound heterozygous variant in TLR1 gene is associated with susceptibility to rheumatoid arthritis — structural perspective and functional annotations
IntroductionBesides human leukocyte antigen (HLA-DRB1) locus, more than 100 loci across the genome have been identified and linked with the onset,...
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COLQ-related congenital myasthenic syndrome: An integrative view
Congenital myasthenic syndromes are inherited disorders caused by mutation in components of the neuromuscular junction and manifest early in life....
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Serum autoantibodies against α7-nicotinic receptors in subgroups of patients with bipolar disorder or schizophrenia: clinical features and link with peripheral inflammation
There is growing evidence that autoantibodies (AAbs) against proteins expressed in the brain are playing an important role in neurological and...
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Single-cell profiling of myasthenia gravis identifies a pathogenic T cell signature
Myasthenia gravis (MG) is an autoimmune disease characterized by impaired neuromuscular signaling due to autoantibodies targeting the acetylcholine...
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Neuromyelitis Optica: Pathogenesis Overlap with Other Autoimmune Diseases
Purpose of ReviewNeuromyelitis optica (NMO) is an auto-immune disease essentially depicted by optic neuritis and transverse myelitis. Per se, NMO was...
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Appearance of tuft cells during prostate cancer progression
Tuft cells are chemosensory epithelial cells that increase in number following infection or injury to robustly activate the innate immune response to...
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Myasthenia gravis exacerbation after melatonin administration: case series from a tertiary referral centre
BackgroundMyasthenia gravis is an autoimmune disease mediated by antibodies against proteins associated with the postsynaptic membrane of the...
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Molecular pathology of thymomas: implications for diagnosis and therapy
Thymomas exhibit a unique genomic landscape, comprising the lowest on average total mutational burden among adult human cancers; a unique point...
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Psychiatric Adverse Events of Acetylcholinesterase Inhibitors in Alzheimer’s Disease and Parkinson’s Dementia: Systematic Review and Meta-Analysis
BackgroundThe acetylcholinesterase inhibitors (AChEIs) donepezil, galantamine, and rivastigmine are commonly used in the management of various forms...
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Diagnostics of myasthenic syndromes: detection of anti-AChR and anti-MuSK antibodies
This paper presents the Italian guidelines for autoantibody testing in myasthenia gravis that have been developed following a consensus process built...