<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Manara, R</style></author><author><style face="normal" font="default" size="100%">D'Agata, L</style></author><author><style face="normal" font="default" size="100%">Rocco, M C</style></author><author><style face="normal" font="default" size="100%">Cusmai, R</style></author><author><style face="normal" font="default" size="100%">Freri, E</style></author><author><style face="normal" font="default" size="100%">Pinelli, L</style></author><author><style face="normal" font="default" size="100%">Darra, F</style></author><author><style face="normal" font="default" size="100%">Procopio, E</style></author><author><style face="normal" font="default" size="100%">Mardari, R</style></author><author><style face="normal" font="default" size="100%">Zanus, C</style></author><author><style face="normal" font="default" size="100%">Di Rosa, G</style></author><author><style face="normal" font="default" size="100%">Soddu, C</style></author><author><style face="normal" font="default" size="100%">Severino, M</style></author><author><style face="normal" font="default" size="100%">Ermani, M</style></author><author><style face="normal" font="default" size="100%">Longo, D</style></author><author><style face="normal" font="default" size="100%">Sartori, S</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Menkes Working Group in the Italian Neuroimaging Network for Rare Diseases</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Neuroimaging Changes in Menkes Disease, Part 1.</style></title><secondary-title><style face="normal" font="default" size="100%">AJNR Am J Neuroradiol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">AJNR Am J Neuroradiol</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Brain</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease Progression</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Magnetic Resonance Imaging</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Menkes Kinky Hair Syndrome</style></keyword><keyword><style  face="normal" font="default" size="100%">Neuroimaging</style></keyword><keyword><style  face="normal" font="default" size="100%">Retrospective Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">White Matter</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 Oct</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">38</style></volume><pages><style face="normal" font="default" size="100%">1850-1857</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease. After the first months, myelination delay becomes evident, often in association with protean focal white matter lesions, some of which reveal an age-specific brain vulnerability. In later phases of the disease, concomitant progressive neurodegeneration might hinder the myelination progression. The currently enriched knowledge of neuroradiologic finding evolution provides valuable clues for early diagnosis, identifies possible MR imaging biomarkers of new treatment efficacy, and improves our comprehension of possible mechanisms of brain injury in Menkes disease.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28495946?dopt=Abstract</style></custom1></record></records></xml>