{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:09:21Z","timestamp":1786118961862,"version":"build-2736575974"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Hereditary neuralgic amyotrophy (HNA), an autosomal dominant disorder associated with\n                      <jats:italic toggle=\"yes\">SEPT9<\/jats:italic>\n                      mutation located on chromosome 17q25, causes recurrent painful weakness with sensory disturbances in a brachial distribution. We present electrophysiological, clinical phenotype, and molecular genetic data of three members from a family with HNA with the C262T\n                      <jats:italic toggle=\"yes\">SEPT9<\/jats:italic>\n                      mutation. The degree of motor weakness and recovery is variable within this family. Severity and recovery from motor deficits may have been a function of comorbid medical conditions. To our knowledge, this is the first report to confirm\n                      <jats:italic toggle=\"yes\">SEPT9<\/jats:italic>\n                      mutation in a family with suspected HNA.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/cnd.0b013e318166ee89","type":"journal-article","created":{"date-parts":[[2008,5,30]],"date-time":"2008-05-30T03:06:51Z","timestamp":1212116811000},"page":"379-384","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":11,"title":["Painful Brachial Plexopathies in SEPT9 Mutations: Adverse Outcome Related to Comorbid States"],"prefix":"10.1097","volume":"9","author":[{"given":"Romy","family":"Hoque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert N","family":"Schwendimann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E","family":"Kelley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Bien-Willner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumaraswamy","family":"Sivakumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-1-20240808","doi-asserted-by":"crossref","first-page":"743","DOI":"10.4065\/70.8.743","article-title":"Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy-two genetically distinct disorders.","volume":"70","author":"Windebank","year":"1995","journal-title":"Mayo Clin Proc"},{"key":"R2-1-20240808","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1038\/ng1649","article-title":"Mutations in SEPT9 cause hereditary neuralgic amyotrophy.","volume":"37","author":"Kuhlenbaumer","year":"2005","journal-title":"Nat Genet"},{"key":"R3-1-20240808","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/path.1654","article-title":"The pathobiology of the septin gene family.","volume":"204","author":"Hall","year":"2004","journal-title":"J Pathol"},{"key":"R4-1-20240808","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1093\/hmg\/ddm003","article-title":"Translational control of SEPT9 isoforms is perturbed in disease.","volume":"16","author":"McDade","year":"2007","journal-title":"Hum Mol Genet"},{"key":"R5-1-20240808","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1242\/jcs.02746","article-title":"Here come the septins: novel polymers that coordinate intracellular functions and organization.","volume":"119","author":"Spiliotis","year":"2006","journal-title":"J Cell Sci"},{"key":"R6-1-20240808","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ceb.2005.12.005","article-title":"Diversity of septin scaffolds.","volume":"18","author":"Kinoshita","year":"2006","journal-title":"Curr Opin Cell Biol"},{"issue":"Pt 4","key":"R7-1-20240808","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1093\/brain\/123.4.718","article-title":"The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types?","volume":"123","author":"van Alfen","year":"2000","journal-title":"Brain"},{"key":"R8-1-20240808","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1093\/brain\/awh722","article-title":"The clinical spectrum of neuralgic amyotrophy in 246 cases.","volume":"129","author":"van Alfen","year":"2006","journal-title":"Brain"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00131402-200806000-00001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T17:10:04Z","timestamp":1786036204000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00131402-200806000-00001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0b013e318166ee89","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2008,6]]}}}