{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:38:07Z","timestamp":1786977487653,"version":"build-2736575974"},"reference-count":47,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,10]],"date-time":"2018-10-10T00:00:00Z","timestamp":1539129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ZI 486\/4\u20101"],"award-info":[{"award-number":["ZI 486\/4\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ZI 486\/8\u20101"],"award-info":[{"award-number":["ZI 486\/8\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Cytoskeleton"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant disorder associated with episodic, recurrent, and painful neuropathies affecting the nerves of the brachial plexus. In this study, we report on a family of Lebanese descent with HNA onset in early childhood. The affected family members presented with platelet dysfunction. Platelet aggregation was reduced after stimulation with the agonists ADP and epinephrine in all affected family members. Flow cytometric analyses revealed impaired platelet \u03b4\u2010secretion. The index patient and one brother suffered from kidney cysts. Molecular genetic analysis revealed a heterozygous duplication of exon 2 within the\n                    <jats:italic>septin 9<\/jats:italic>\n                    (\n                    <jats:italic>SEPT9)<\/jats:italic>\n                    gene in all the affected family members. Such a young child with HNA (aged 2 years) caused by\n                    <jats:italic>SEPT9<\/jats:italic>\n                    duplication has not been described so far.\n                  <\/jats:p>","DOI":"10.1002\/cm.21479","type":"journal-article","created":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T15:58:28Z","timestamp":1531929508000},"page":"131-136","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Hereditary neuralgic amyotrophy in childhood caused by duplication within the\n                    <i>SEPT9<\/i>\n                    gene: A family study"],"prefix":"10.1002","volume":"76","author":[{"given":"Katharina","family":"Neubauer","sequence":"first","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine University Medical Center, Medical Faculty, University of Freiburg  Freiburg 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