Literature DB >> 29984898

Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening?

A Pessoa1.   

Abstract

Entities:  

Keywords:  LCC; Labrune; SNORD118; leukoencephalopathy brain calcifications and cysts

Year:  2018        PMID： 29984898     DOI： 10.1111/ene.13671

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


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  2 in total

1.  Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to SNORD118 Variants.

Authors:  Hong Jin; Xiaotun Ren; Husheng Wu; Yanqi Hou; Fang Fang
Journal:  Front Neurol       Date:  2021-06-17       Impact factor: 4.003

Review 2.  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
  2 in total

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