| The unfolded protein response: mechanisms and therapy of neurodegeneration |
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Scritto da Brain - current issue |
Activation of the unfolded protein response is emerging as a common theme in protein-misfolding neurodegenerative diseases, with relevant markers observed in patient tissue and mouse models. Genetic and pharmacological manipulation of the pathway ... ...
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| Zika virus-associated neurological disorders: a review |
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Scritto da Brain - current issue |
Zika virus, an arbovirus transmitted by mosquitoes of the Aedes species, is now rapidly disseminating throughout the Americas and the ongoing Brazilian outbreak is the largest Zika virus epidemic so far described. In addition to being asso ... ...
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| High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody |
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Scritto da Brain - current issue |
Cancer can occur in patients with inflammatory myopathies. This association is mainly observed in dermatomyositis, and myositis-specific antibodies have allowed us to delineate patients at an increased risk. Malignancy is also reported in patient ... ...
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| Prenatal famine exposure has sex-specific effects on brain size |
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Scritto da Brain - current issue |
Early nutritional deprivation might cause irreversible damage to the brain. Prenatal exposure to undernutrition has been shown to be associated with increased central nervous system anomalies at birth and decreased cognitive function in adulthood ... ...
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| Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome |
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Scritto da Brain - current issue |
Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle w ... ...
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| A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy |
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Scritto da Brain - current issue |
Limb girdle muscular dystrophy type 2A is the most common limb girdle muscular dystrophy form worldwide. Although strict recessive inheritance is assumed, patients carrying a single mutation in the calpain 3 gene (CAPN3) are reported. Such ... ...
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| Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol |
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Scritto da Brain - current issue |
Mutations in brain isoforms of voltage-gated sodium channels have been identified in patients with distinct epileptic phenotypes. Clinically, these patients often do not respond well to classic anti-epileptics and many remain refractory to treatm ... ...
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