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READ THE PAPER: http://bit.ly/2IuiurS Small fibre neuropathy leads to severe neuropathic pain. In a randomized, double-blind, crossover trial – the LENSS study – de Greef et al. evaluate the effic...
READ THE PAPER: http://bit.ly/2G3nZfi Many patients with mitochondrial disease have neurological symptoms, including drug-refractory epilepsy. Chan et al. develop an in vitro model of mitochondrial...
READ THE PAPER: https://bit.ly/2R7uHC4 Progressive myelopathy is the most frequent and disabling manifestation of adrenoleukodystrophy, but a lack of quantitative natural history data is hampering ...
READ THE PAPER: https://bit.ly/2S9aO29 AADC deficiency causes severe motor and intellectual disability as a result of reduced catecholamine levels. Kojima et al. report beneficial effects of gene t...
READ THE FULL PAPER: https://bit.ly/2ANvG4M The nicotinamide nucleotide repair system comprises two enzymes: NAXD and NAXE. Van Bergen et al. identify the first pathogenic variants in NAXD in infan...
READ THE FULL PAPER: https://bit.ly/2F1pGtd The origin of migraine pain is unknown, but may involve the dura mater. In unilateral migraine without aura, Khan et al. report that the middle meningeal...
READ THE FULL PAPER: https://bit.ly/2EKnxRG The neurocomputational mechanisms underlying hypersexual impulse control disorder in Parkinson's disease remain poorly characterized. Using model-based f...
READ THE FULL PAPER: https://bit.ly/2Sb8rZq The genetic basis of many brain and spinal arteriovenous malformations is unclear. Hong et al. reveal a causative role for somatic tumour-related mutatio...
READ THE FULL PAPER: https://bit.ly/2BEyXo1 Sampedro Castaneda et al. describe a boy with hypokalaemic periodic paralysis (hypoPP) and epilepsy without mutations in known risk genes. They show that...
READ THE PAPER AT: https://bit.ly/2KyI2lj Validated outcome measures for children under 3 years with Charcot-Marie-Tooth disease are needed to facilitate clinical trials in a population likely to b...
Read the paper at https://doi.org/10.1093/brain/awy214 Drug-refractory focal epilepsies are network diseases associated with functional connectivity alterations. However, few studies of functional ...
READ THE PAPER: By integrating genome, transcriptome and proteome data, Petyuk et al. identify HSPA2 as a driver of pathology in Alzheimer’s disease, replicating the finding in an independent cohor...
