{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T09:06:37Z","timestamp":1694941597135},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T00:00:00Z","timestamp":1549497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Tangier disease (TD) is an autosomal recessive disorder characterized by severe reduction in high\u2010density lipoprotein and accumulation of cholesterol esters in peripheral nerves and other tissues. The aim of this study was to evaluate whether nerve high\u2010resolution ultrasonography (HRUS) can detect morphological nerve changes in TD. <jats:italic>Methods<\/jats:italic>: Three related patients of a previously reported Italian family with Tangier disease, carrying the Y1698X mutation in <jats:italic>ABCA1<\/jats:italic>, underwent clinical, neurophysiological, and quantitative nerve HRUS evaluation. Nerve HRUS data were compared with normal controls. <jats:italic>Results<\/jats:italic>: Despite neurophysiological abnormalities, no quantitative HRUS abnormality was detected in peripheral nerves. <jats:italic>Discussion<\/jats:italic>: Normalcy of HRUS in neurophysiologically abnormal nerves suggests possible subtle abnormalities that escape quantitative HRUS detection. Systematic studies in larger TD cohorts with different mutations are needed to confirm our findings. <jats:italic>Muscle Nerve<\/jats:italic> 59:587\u2013587, 2019<\/jats:p>","DOI":"10.1002\/mus.26427","type":"journal-article","created":{"date-parts":[[2019,1,25]],"date-time":"2019-01-25T05:29:36Z","timestamp":1548394176000},"page":"587-590","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Nerve high\u2010resolution ultrasonography in tangier disease"],"prefix":"10.1002","volume":"59","author":[{"given":"Antonella Di","family":"Pasquale","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Mental Health and Sensory Organs Sapienza University of Rome, Sant'Andrea Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Leonardi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mental Health and Sensory Organs Sapienza University of Rome, Sant'Andrea Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Fionda","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mental Health and Sensory Organs Sapienza University of Rome, Sant'Andrea Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiammetta","family":"Vanoli","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mental Health and Sensory Organs Sapienza University of Rome, Sant'Andrea Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Garibaldi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mental Health and Sensory Organs Sapienza University of Rome, Sant'Andrea Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Inghilleri","sequence":"additional","affiliation":[{"name":"Human Neuroscience Department Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Ceccanti","sequence":"additional","affiliation":[{"name":"Human Neuroscience Department Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Cambieri","sequence":"additional","affiliation":[{"name":"Human Neuroscience Department Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Onesti","sequence":"additional","affiliation":[{"name":"Human Neuroscience Department Sapienza University of Rome  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Antonini","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Mental Health and Sensory Organs Sapienza University of Rome, Sant'Andrea Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,2,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/11905"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/11921"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/11914"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197803000-00002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1985.tb00907.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(90)90265-O"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313867"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/106.4.911"},{"key":"e_1_2_6_10_1","first-page":"445","article-title":"An uncommon cause of bifacial weakness and non\u2010length\u2010dependent demyelinating neuropathy","volume":"18","author":"Nagappa M","year":"2015","journal-title":"Ann Indian Acad Neurol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1565275"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.0000078520.89539.77"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2016.00185"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21431"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7953-7"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25766"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001291"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ultrasmedbio.2010.05.012"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2013.03.007"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2005.07.009"}],"container-title":["Muscle &amp; 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