Brain

@Brain1878

Brain: A Journal of Neurology. Publishing leading studies in neurological science since 1878.

London
Vrijeme pridruživanja: siječanj 2014.

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  1. prije 4 sata

    Lacosamide reduces pain in a subset of patients with small fibre neuropathy caused by mutations in Nav1.7 sodium channels. Labau et al. provide biophysical data that may explain why a subset of Nav1.7 variants differentially respond to lacosamide.

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  2. 4. velj

    Hippocampal vascularization patterns vary between individuals. Perosa et al. show that a mixed hippocampal supply, as opposed to a single one, provides a hippocampal vascular reserve that protects against cognitive impairment.

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    3. velj

    I think we are doing well so far as little sister!!

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  4. 3. velj

    Van Bergen et al. add to the growing number of ‘trappopathies’ by identifying a pathogenic variant in TRAPPC4 in children with early-onset seizures and developmental delay.

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  5. 3. velj

    Inborn errors of CACNA1A-encoded P/Q-type calcium channels give rise to childhood absence epilepsy. Miao et al. show that adult loss of Cacna1a in mice replicates the phenotype by distinct thalamic bursting mechanisms.

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  6. 31. sij

    He et al. reveal how focal to bilateral tonic-clonic seizures reshape the brain, promoting thalamus-mediated cortico-cortical communication and reducing basal ganglia–thalamus interactions through the direct basal ganglia pathway.

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  7. 30. sij

    Betthauser et al. show that individuals with elevated levels of both pathological beta-amyloid and tau show faster cognitive decline during late middle-age than those with one or no elevated biomarkers.

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  8. 30. sij

    Iturria-Medina et al. develop a machine-learning algorithm that can infer the intrinsic temporal information contained in large-scale datasets for neurodegenerative diseases.

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  9. proslijedio/la je Tweet
    29. sij

    Matsukawa et al. have just published their work in about "Clinical efficacy of haematopoietic stem cell transplantation for adult adrenoleukodystrophy" . Find it 🧐at .

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  10. 29. sij

    In spinal muscular atrophy, chronic low levels of SMN lead to neurodegeneration via accumulation of R-loops and DNA damage. Kannan, Jiang et al. show that overexpression of ZPR1 prevents R-loops and rescues DNA damage in cells and a mouse model.

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  11. 29. sij

    Mak et al. identify a cluster of de novo truncating mutations in the MN1 gene in patients with a novel syndrome comprising midface hypoplasia, severe language delay and distinctive brain malformations.

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  12. 28. sij

    Sun et al. identify an abnormal GGC repeat expansion in the 5’ region of NOTCH2NLC in 11 families with essential tremor. The findings suggest that essential tremor is a family of diseases with high clinical and genetic heterogeneity.

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  13. 28. sij

    AI-analyzed blood test can predict the progression of neurodegenerative disease via

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  14. 27. sij

    Huin et al. expand the phenotypic spectrum of homozygous GRN (progranulin) mutations to include late-onset frontotemporal dementia, and provide new insights into GRN disease mechanisms.

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  15. 27. sij

    Crapser et al. show that eliminating microglia from a mouse model of ’s disease reduces motor and cognitive impairments, mutant huntingtin accumulation, and striatal volume loss.

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  16. 24. sij

    Subependymal giant cell astrocytomas (SEGAs) cause neurological complications in patients with tuberous sclerosis complex. Bongaarts et al. identify MAPK/ERK activation in SEGAs, and propose that the pathway could be a new treatment target.

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  17. 24. sij

    Freezing of gait is disabling and difficult to treat. Weiss et al. review recent advances in imaging, genetics, neurophysiology and neuromodulation, and propose topics for future research.

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  18. 24. sij

    Psychiatrist Adolf Meyer was also a neuroanatomist. Schijns and Koehler explore how Meyer’s anatomical studies enabled him to describe the temporal loop of the optic radiation, known today as ‘Meyer’s loop’.

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    21. sij

    Saadon-Grosman et al. just published their work in The "creatures" of the human cortical somatosensory system Multiple somatosensory homunculi . Read it 👩‍💻👨‍💻 at !

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  20. 22. sij

    At least 50% of patients with tuberous sclerosis complex present with intractable epilepsy. Liu et al. report the long-term outcomes of resective surgery in more than 350 patients, including seizure control rates after 1, 4 and 10 years.

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