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Brain - Advance Access

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Slow blood-to-brain transport underlies enduring barrier dysfunction in American football players

AbstractRepetitive mild traumatic brain injury in American football players has garnered increasing public attention following reports of chronic traumatic encephalopathy, a progressive tauopathy. While the mechanisms underlying repetitive mild traumatic brain injury-induced neurodegeneration are unknown and antemortem diagnostic tests are not available,...

Increased perception-action binding in Tourette syndrome

AbstractGilles de la Tourette syndrome is a multifaceted neurodevelopmental disorder characterized by multiple motor and vocal tics. Research in Tourette syndrome has traditionally focused on the motor system. However, there is increasing evidence that perceptual and cognitive processes play a crucial role as well. Against this background it has been...

NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness

Sir,

Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness

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Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder

Distinctive binding properties of human monoclonal LGI1 autoantibodies determine pathogenic mechanisms

AbstractAutoantibodies against leucine-rich glioma inactivated 1 (LGI1) are found in patients with limbic encephalitis and focal seizures. Here, we generate patient-derived monoclonal antibodies (mAbs) against LGI1. We explore their sequences and binding characteristics, plus their pathogenic potential using transfected HEK293T cells, rodent neuronal...

Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures

AbstractAbsence seizures in children and teenagers are generally considered relatively benign because of their non-convulsive nature and the large incidence of remittance in early adulthood. Recent studies, however, show that 30% of children with absence seizures are pharmaco-resistant and 60% are affected by severe neuropsychiatric comorbid conditions,...

Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family

Reply: ARSA gene variants and Parkinson’s disease

ARSA gene variants and Parkinson’s disease

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