Literature DB >> 29984895

Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations.

I Taglia1, I Di Donato1, N De Stefano1, S Bianchi1, P Galluzzi2, A Federico1, M T Dotti1.   

Abstract

Entities:  

Keywords:  zzm321990SNORD118zzm321990; Labrune syndrome; leukoencephalopathy calcifications and cysts

Year:  2018        PMID： 29984895     DOI： 10.1111/ene.13656

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


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  1 in total

Review 1.  Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review.

Authors:  Suzanne Murphy; Gabriella Grima; Kshitij Mankad; Kristian Aquilina
Journal:  Childs Nerv Syst       Date:  2021-05-21       Impact factor: 1.475
  1 in total

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