Literature DB >> 29984897

A novel prion protein gene-truncating mutation causing autonomic neuropathy and diarrhea.

G Bommarito1, M Cellerino1, V Prada1, C Venturi1, S Capellari2,3, P Cortelli2,3, G L Mancardi1, P Parchi3,4, A Schenone1.   

Abstract

Entities:  

Keywords:  autonomic nervous system; prion diseases; systemic amyloidoses

Year:  2018        PMID： 29984897     DOI： 10.1111/ene.13665

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  2 in total

1.  Evaluating drug targets through human loss-of-function genetic variation.

Authors:  Eric Vallabh Minikel; Konrad J Karczewski; Hilary C Martin; Beryl B Cummings; Nicola Whiffin; Daniel Rhodes; Jessica Alföldi; Richard C Trembath; David A van Heel; Mark J Daly; Stuart L Schreiber; Daniel G MacArthur
Journal:  Nature       Date:  2020-05-27       Impact factor: 49.962

2.  A case report of genetic prion disease with two different PRNP variants.

Authors:  Megan Piazza; Thomas W Prior; Prabhjot S Khalsa; Brian Appleby
Journal:  Mol Genet Genomic Med       Date:  2020-01-17       Impact factor: 2.183
  2 in total

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