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Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
The congenital myopathies are a group of inherited neuromuscular disorders mainly defined on the basis of characteristic histopathological features. We analysed 66 patients assessed at a singleExpand
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Epstein‐Barr virus persistence and reactivation in myasthenia gravis thymus
Increasing evidence supports a link between Epstein‐Barr virus (EBV), a ubiquitous B‐lymphotropic human herpesvirus, and common B‐cell–related autoimmune diseases. We sought evidence of EBV infectionExpand
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Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
IntroductionProtein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93Expand
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Predictors and moderators of time to remission of major depression with interpersonal psychotherapy and SSRI pharmacotherapy.
BACKGROUND Although many studies suggest that, on average, depression-specific psychotherapy and antidepressant pharmacotherapy are efficacious, we know relatively little about which patients areExpand
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Thymoma-associated myasthenia gravis: Outcome, clinical and pathological correlations in 197 patients on a 20-year experience
We studied 197 patients with thymoma-associated myasthenia gravis (T-MG) to identify variables that can influence the natural history of the disease and the therapeutical approaches. MultivariateExpand
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The thymus in myasthenia gravis: Site of “innate autoimmunity”?
Myasthenia gravis (MG) is an autoimmune disorder caused, in most cases, by autoantibodies against components of the neuromuscular junction, frequently the acetylcholine receptor (AChR), and lessExpand
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
BackgroundMyosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expressionExpand
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The relationship between health, disability and quality of life in Myasthenia Gravis: results from an Italian study
Myasthenia gravis (MG) produces long term disability and affects health-related quality of life (HRQoL). This paper reports the relationship between HRQoL and disability in a group of patients withExpand
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Complete stable remission and autoantibody specificity in myasthenia gravis
Objectives: Patients with myasthenia gravis (MG) are subgrouped as acetylcholine receptor (AChR)–positive, muscle-specific kinase (MuSK)–positive, and AChR/MuSK-negative MG (or double negative [DN])Expand
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ICF in neurology: Functioning and disability in patients with migraine, myasthenia gravis and Parkinson's disease
Purpose. To report and compare functional features of patients with migraine, myasthenia gravis (MG) and Parkinson's disease (PD) with the International Classification of Functioning, Disability andExpand
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