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Neurofilament Light Chain Levels in Serum and Cerebrospinal Fluid Do Not Correlate with Survival Times in Patients with Prion Disease. [PDF]

open access: yesBiomolecules
Shimamura M   +9 more
europepmc   +1 more source

Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. [PDF]

open access: yesActa Neuropathol
McDonough GA   +13 more
europepmc   +1 more source

Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion. [PDF]

open access: yesNeurology
Vallabh SM   +16 more
europepmc   +1 more source
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Prion Disease

Seminars in Neurology, 2019
AbstractPrion diseases are a phenotypically diverse set of disorders characterized by protease-resistant abnormally shaped proteins known as prions. There are three main groups of prion diseases, termed sporadic (Creutzfeldt–Jakob disease [CJD], sporadic fatal insomnia, and variably protease-sensitive prionopathy), genetic (genetic CJD, fatal familial ...
Kelly J, Baldwin, Cynthia M, Correll
openaire   +3 more sources

Prion disease

Handbook of Clinical Neurology, 2018
Genetic prion diseases (gPrDs) are caused by autosomal-dominant mutations in the prion protein gene (PRNP). Although the first PRNP mutations identified, and most since, are PRNP missense, octapeptide repeat insertions, deletion and nonsense mutations have now also been shown to cause gPrD. Based on clinicopathologic features of familial disease, gPrDs
Leonel T, Takada   +4 more
openaire   +3 more sources

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