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<meta name="DC.Title" content="Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease" />
<meta name="DC.Identifier" content="10.3174/ajnr.A8403" />
<meta name="DC.Date" content="2024-11-01" />
<meta name="DC.Publisher" content="American Journal of Neuroradiology" />
<meta name="DC.Rights" content="© 2024 by American Journal of Neuroradiology" />
<meta name="DC.AccessRights" content="restricted" />
<meta name="DC.Description" content="BACKGROUND AND PURPOSE: Alterations of the basilar artery (BA) anatomy have been suggested as a possible MRA feature of Fabry disease (FD). Nonetheless, no information about their clinical or pathophysiologic correlates is available, limiting our comprehension of the real impact of vessel remodeling in FD.

MATERIALS AND METHODS: Brain MRIs of 53 subjects with FD (mean age, 40.7 [SD, 12.4] years; male/female ratio = 23:30) were collected in this single-center study. Mean BA diameter and its tortuosity index were calculated on MRA. Possible correlations between these metrics and clinical, laboratory, and advanced imaging variables of the posterior circulation were tested. In a subgroup of 20 subjects, a 2-year clinical and imaging follow-up was available, and possible longitudinal changes of these metrics and their ability to predict clinical scores were also probed.

RESULTS: No significant association was found between MRA metrics and any clinical, laboratory, or advanced imaging variable ( P values ranging from −0.006 to 0.32). At the follow-up examination, no changes were observed with time for the mean BA diameter ( P = .84) and the tortuosity index ( P = .70). Finally, baseline MRA variables failed to predict the clinical status of patients with FD at follow-up ( P = .42 and 0.66, respectively).

CONCLUSIONS: Alterations of the BA in FD lack of any meaningful association with clinical, laboratory, or advanced imaging findings collected in this study. Furthermore, this lack of correlation seems constant across time, suggesting stability over time. Taken together, these results suggest that the role of BA dolichoectasia in FD should be reconsidered.

BA
:   basilar artery
FA
:   fractional anisotropy
FASTEX
:   FAbry STabilization indEX
FD
:   Fabry disease
Gb3
:   globotriaosylceramide
ICC
:   intraclass correlation coefficient
LysoGb3
:   globotriaosylsphingosine
MSSI
:   Mainz Severity Score Index
PCA
:   posterior cerebral artery
TI
:   tortuosity index" />
<meta name="DC.Contributor" content="Alessandra Scaravilli" />
<meta name="DC.Contributor" content="Serena Capasso" />
<meta name="DC.Contributor" content="Lorenzo Ugga" />
<meta name="DC.Contributor" content="Ivana Capuano" />
<meta name="DC.Contributor" content="Teodolinda Di Risi" />
<meta name="DC.Contributor" content="Giuseppe Pontillo" />
<meta name="DC.Contributor" content="Eleonora Riccio" />
<meta name="DC.Contributor" content="Mario Tranfa" />
<meta name="DC.Contributor" content="Antonio Pisani" />
<meta name="DC.Contributor" content="Arturo Brunetti" />
<meta name="DC.Contributor" content="Sirio Cocozza" />
<meta name="article:published_time" content="2024-11-01" />
<meta name="article:section" content="Neurovascular/Stroke Imaging" />
<meta name="citation_title" content="Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease" />
<meta name="citation_abstract" lang="en" content="&lt;h3&gt;BACKGROUND AND PURPOSE:&lt;/h3&gt;
&lt;p&gt;Alterations of the basilar artery (BA) anatomy have been suggested as a possible MRA feature of Fabry disease (FD). Nonetheless, no information about their clinical or pathophysiologic correlates is available, limiting our comprehension of the real impact of vessel remodeling in FD.&lt;/p&gt;&lt;h3&gt;MATERIALS AND METHODS:&lt;/h3&gt;
&lt;p&gt;Brain MRIs of 53 subjects with FD (mean age, 40.7 [SD, 12.4] years; male/female ratio = 23:30) were collected in this single-center study. Mean BA diameter and its tortuosity index were calculated on MRA. Possible correlations between these metrics and clinical, laboratory, and advanced imaging variables of the posterior circulation were tested. In a subgroup of 20 subjects, a 2-year clinical and imaging follow-up was available, and possible longitudinal changes of these metrics and their ability to predict clinical scores were also probed.&lt;/p&gt;&lt;h3&gt;RESULTS:&lt;/h3&gt;
&lt;p&gt;No significant association was found between MRA metrics and any clinical, laboratory, or advanced imaging variable (&lt;i&gt;P&lt;/i&gt; values ranging from −0.006 to 0.32). At the follow-up examination, no changes were observed with time for the mean BA diameter (&lt;i&gt;P&lt;/i&gt; = .84) and the tortuosity index (&lt;i&gt;P&lt;/i&gt; = .70). Finally, baseline MRA variables failed to predict the clinical status of patients with FD at follow-up (&lt;i&gt;P&lt;/i&gt; = .42 and 0.66, respectively).&lt;/p&gt;&lt;h3&gt;CONCLUSIONS:&lt;/h3&gt;
&lt;p&gt;Alterations of the BA in FD lack of any meaningful association with clinical, laboratory, or advanced imaging findings collected in this study. Furthermore, this lack of correlation seems constant across time, suggesting stability over time. Taken together, these results suggest that the role of BA dolichoectasia in FD should be reconsidered.&lt;/p&gt;" />
<meta name="citation_journal_title" content="American Journal of Neuroradiology" />
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<meta name="citation_publication_date" content="2024/11/01" />
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<meta name="twitter:title" content="Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease" />
<meta name="twitter:card" content="summary_large_image" />
<meta name="twitter:image" content="http://ajnr-stage2.stage.highwire.org/sites/default/files/highwire/ajnr/45/11.cover-source.jpg" />
<meta name="twitter:description" content="BACKGROUND AND PURPOSE: Alterations of the basilar artery (BA) anatomy have been suggested as a possible MRA feature of Fabry disease (FD). Nonetheless, no information about their clinical or pathophysiologic correlates is available, limiting our comprehension of the real impact of vessel remodeling in FD.

MATERIALS AND METHODS: Brain MRIs of 53 subjects with FD (mean age, 40.7 [SD, 12.4] years; male/female ratio = 23:30) were collected in this single-center study. Mean BA diameter and its tortuosity index were calculated on MRA. Possible correlations between these metrics and clinical, laboratory, and advanced imaging variables of the posterior circulation were tested. In a subgroup of 20 subjects, a 2-year clinical and imaging follow-up was available, and possible longitudinal changes of these metrics and their ability to predict clinical scores were also probed.

RESULTS: No significant association was found between MRA metrics and any clinical, laboratory, or advanced imaging variable ( P values ranging from −0.006 to 0.32). At the follow-up examination, no changes were observed with time for the mean BA diameter ( P = .84) and the tortuosity index ( P = .70). Finally, baseline MRA variables failed to predict the clinical status of patients with FD at follow-up ( P = .42 and 0.66, respectively).

CONCLUSIONS: Alterations of the BA in FD lack of any meaningful association with clinical, laboratory, or advanced imaging findings collected in this study. Furthermore, this lack of correlation seems constant across time, suggesting stability over time. Taken together, these results suggest that the role of BA dolichoectasia in FD should be reconsidered.

BA
:   basilar artery
FA
:   fractional anisotropy
FASTEX
:   FAbry STabilization indEX
FD
:   Fabry disease
Gb3
:   globotriaosylceramide
ICC
:   intraclass correlation coefficient
LysoGb3
:   globotriaosylsphingosine
MSSI
:   Mainz Severity Score Index
PCA
:   posterior cerebral artery
TI
:   tortuosity index" />
<meta name="og-title" property="og:title" content="Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease" />
<meta name="og-url" property="og:url" content="http://ajnr-stage2.stage.highwire.org/content/45/11/1670" />
<meta name="og-site-name" property="og:site_name" content="American Journal of Neuroradiology" />
<meta name="og-description" property="og:description" content="BACKGROUND AND PURPOSE: Alterations of the basilar artery (BA) anatomy have been suggested as a possible MRA feature of Fabry disease (FD). Nonetheless, no information about their clinical or pathophysiologic correlates is available, limiting our comprehension of the real impact of vessel remodeling in FD.

MATERIALS AND METHODS: Brain MRIs of 53 subjects with FD (mean age, 40.7 [SD, 12.4] years; male/female ratio = 23:30) were collected in this single-center study. Mean BA diameter and its tortuosity index were calculated on MRA. Possible correlations between these metrics and clinical, laboratory, and advanced imaging variables of the posterior circulation were tested. In a subgroup of 20 subjects, a 2-year clinical and imaging follow-up was available, and possible longitudinal changes of these metrics and their ability to predict clinical scores were also probed.

RESULTS: No significant association was found between MRA metrics and any clinical, laboratory, or advanced imaging variable ( P values ranging from −0.006 to 0.32). At the follow-up examination, no changes were observed with time for the mean BA diameter ( P = .84) and the tortuosity index ( P = .70). Finally, baseline MRA variables failed to predict the clinical status of patients with FD at follow-up ( P = .42 and 0.66, respectively).

CONCLUSIONS: Alterations of the BA in FD lack of any meaningful association with clinical, laboratory, or advanced imaging findings collected in this study. Furthermore, this lack of correlation seems constant across time, suggesting stability over time. Taken together, these results suggest that the role of BA dolichoectasia in FD should be reconsidered.

BA
:   basilar artery
FA
:   fractional anisotropy
FASTEX
:   FAbry STabilization indEX
FD
:   Fabry disease
Gb3
:   globotriaosylceramide
ICC
:   intraclass correlation coefficient
LysoGb3
:   globotriaosylsphingosine
MSSI
:   Mainz Severity Score Index
PCA
:   posterior cerebral artery
TI
:   tortuosity index" />
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    <div class="highwire-article-citation highwire-citation-type-highwire-article node111443--5" data-node-nid="111443" id="top-node-111443--61492919659" data-pisa="ajnr;45/11/1670" data-pisa-master="ajnr;ajnr.A8403" data-apath="/ajnr/45/11/1670.atom" data-hw-author-tooltip-instance="highwire_author_tooltip"><div class="highwire-cite highwire-cite-highwire-article highwire-citation-jcore-article-title-complete clearfix has-author-tooltip highwire-citation-highwire-article-top-a">
  
  
      <div class="highwire-cite-overline"><span  class="highwire-cite-metadata-article-type highwire-cite-metadata">Research Article</span><span class="separator-pipe"></span><span  class="highwire-cite-metadata-art-cat highwire-cite-metadata"><span class="wrapper">Neurovascular/Stroke Imaging</span></span></div>
  
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      <h1 class="highwire-cite-title" id="page-title">Clinical and Pathophysiologic Correlates of Basilar Artery Measurements in Fabry Disease</h1>  
    	<div class="highwire-cite-authors"><span  class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0">Alessandra Scaravilli</span>, <span class="highwire-citation-author" data-delta="1">Serena Capasso</span>, <span class="highwire-citation-author" data-delta="2">Lorenzo Ugga</span>, <span class="highwire-citation-author" data-delta="3">Ivana Capuano</span>, <span class="highwire-citation-author" data-delta="4">Teodolinda Di Risi</span>, <span class="highwire-citation-author" data-delta="5">Giuseppe Pontillo</span>, <span class="highwire-citation-author" data-delta="6">Eleonora Riccio</span>, <span class="highwire-citation-author" data-delta="7">Mario Tranfa</span>, <span class="highwire-citation-author" data-delta="8">Antonio Pisani</span>, <span class="highwire-citation-author" data-delta="9">Arturo Brunetti</span> and <span class="highwire-citation-author" data-delta="10">Sirio Cocozza</span></span></div>
  
    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">November 2024,  </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">45 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1670-1677; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata">DOI: https://doi.org/10.3174/ajnr.A8403 </span></div>
  
  
  
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<div id="hw-article-author-popups-top-node-111443--61492919659" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">Alessandra Scaravilli </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B., S.C.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Alessandra%2BScaravilli%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Scaravilli%20A&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this 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href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Serena%2BCapasso%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Capasso%20S&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ASerena%2BCapasso%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">Lorenzo Ugga </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B., S.C.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Lorenzo%2BUgga%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Ugga%20L&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3ALorenzo%2BUgga%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0001-7811-4612" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for Lorenzo Ugga</a></li></ul></div><div class="author-tooltip-3"><div class="author-tooltip-name">Ivana Capuano </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Ivana%2BCapuano%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Capuano%20I&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AIvana%2BCapuano%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-4"><div class="author-tooltip-name">Teodolinda Di Risi </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>c</span>CEINGE Advanced Biotechnologies (T.D.R.), Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Teodolinda%2BDi%2BRisi%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Di%20Risi%20T&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3ATeodolinda%2BDi%2BRisi%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-5"><div class="author-tooltip-name">Giuseppe Pontillo </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B., S.C.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Giuseppe%2BPontillo%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Pontillo%20G&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AGiuseppe%2BPontillo%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0001-5425-1890" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for Giuseppe Pontillo</a></li></ul></div><div class="author-tooltip-6"><div class="author-tooltip-name">Eleonora Riccio </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Eleonora%2BRiccio%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Riccio%20E&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AEleonora%2BRiccio%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-7"><div class="author-tooltip-name">Mario Tranfa </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>a</span>From the Department of Advanced Biomedical Sciences (A.S., S.C., L.U., G.P., M.T., A.B., S.C.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Mario%2BTranfa%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Tranfa%20M&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3AMario%2BTranfa%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div><div class="author-tooltip-8"><div class="author-tooltip-name">Antonio Pisani </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>b</span>Department of Public Health (I.C., E.R., A.P.), University of Naples “Federico II”, Naples, Italy</div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&amp;gs_type=author&amp;author%5B0%5D=Antonio%2BPisani%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Pisani%20A&amp;link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AAntonio%2BPisani%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="https://orcid.org/0000-0003-0241-8323" target="_blank" class="" 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        	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-volume highwire-cite-metadata">Vol. 45</span>, <span  class="highwire-cite-metadata-issue highwire-cite-metadata">Issue 11 </span><div  class="highwire-cite-metadata-pubdate highwire-cite-metadata">1 Nov 2024 </div></div>
      
      
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Nov 2024, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">45 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1670-1677; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A8403 </span></div>
  
  
  
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    	<div class="highwire-cite-metadata"><span  class="highwire-cite-metadata-journal highwire-cite-metadata">American Journal of Neuroradiology </span><span  class="highwire-cite-metadata-date highwire-cite-metadata">Nov 2024, </span><span  class="highwire-cite-metadata-volume highwire-cite-metadata">45 </span><span  class="highwire-cite-metadata-issue highwire-cite-metadata">(11) </span><span  class="highwire-cite-metadata-pages highwire-cite-metadata">1670-1677; </span><span  class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">DOI:</span> 10.3174/ajnr.A8403 </span></div>
  
  
  
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