{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T15:23:04Z","timestamp":1698506584690},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"834","license":[{"start":{"date-parts":[[1995,4,1]],"date-time":"1995-04-01T00:00:00Z","timestamp":796694400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1995,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan\u2019s syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.<\/jats:p>","DOI":"10.1136\/pgmj.71.834.245","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T21:25:21Z","timestamp":1230585921000},"page":"245-246","source":"Crossref","is-referenced-by-count":5,"title":["The association of hereditary neuropathies and heritable skeletal disorders"],"prefix":"10.1093","volume":"71","author":[{"given":"A K","family":"Chattopadhyay","sequence":"first","affiliation":[{"name":"Royal Hallamshire Hospital, Glossop Road , Sheffield S10 2JF , UK"},{"name":"Department of Clinical Neurophysiology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R H","family":"Kandler","sequence":"additional","affiliation":[{"name":"Royal Hallamshire Hospital, Glossop Road , Sheffield S10 2JF , UK"},{"name":"Department of Clinical Neurophysiology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Sharrack","sequence":"additional","affiliation":[{"name":"Department of Neurology"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1995,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1177\/014107688007300116","article-title":"Arachnodactyly with unusual neuromyopathic and skeletal abnormalities","volume":"73","author":"Barrison, I.G.; Isenberg, D.A.; Kane, S.P.","year":"1980","unstructured":"Barrison IG, Isenberg DA, Kane SP. Arachnodactyly with unusual neuromyopathic and skeletal abnormalities. JR Soc Med 1980; 73: 64-8.","journal-title":"JR Soc Med"},{"key":"ref_2","first-page":"703","article-title":"Maladie de Marfan et neuropathie tomaculaire familiale","volume":"142","author":"Eymard, B.; Tome, F.M.S.; Brunet, P.; Fardeau, M.","year":"1986","unstructured":"Eymard B, Tome FMS, Brunet P, Fardeau M. Maladie de Marfan et neuropathie tomaculaire familiale. Rev Neurol 1986; 142: 703-5.","journal-title":"Rev Neurol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1590\/S0004-282X1980000200013","article-title":"Charcot-Marie-Tooth disease associated with Klippel-Feil malformation. Report of a case and review of the literature","volume":"38","author":"Viegas, C.A.","year":"1980","unstructured":"Viegas CA. Charcot-Marie-Tooth disease associated with Klippel-Feil malformation. Report of a case and review of the literature. Arq Neuropsiquiatr 1980; 38: 193-9.","journal-title":"Arq Neuropsiquiatr"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1212\/WNL.34.9.1270-a","article-title":"Ehlers-Danlos syndrome in association with tomaculous neuropathy (letter)","volume":"34","author":"Schady, W.; Ochoa, J.","year":"1984","unstructured":"Schady W, Ochoa J. Ehlers-Danlos syndrome in association with tomaculous neuropathy (letter). Neurology 1984; 34: 1270.","journal-title":"Neurology"},{"key":"ref_5","first-page":"121","article-title":"Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy?","volume":"35","author":"Farag, T.I.; Schimke, R.N.","year":"1989","unstructured":"Farag TI, Schimke RN. Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy? CGin Genet 1989; 35: 121-4.","journal-title":"CGin Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1212\/WNL.23.12.1257","article-title":"Myopathy associated with Marfan's syndrome","volume":"23","author":"Goebel, H.H.; Muller, J.; DeMyer, W.","year":"1973","unstructured":"Goebel HH, Muller J, DeMyer W. Myopathy associated with Marfan's syndrome. Neurology 1973; 23: 1257-68.","journal-title":"Neurology"}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/71\/834\/245\/50218806\/postgradmedj-71-245.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/71\/834\/245\/50218806\/postgradmedj-71-245.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T23:06:38Z","timestamp":1683759998000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/71\/834\/245\/7044165"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,4,1]]},"references-count":6,"journal-issue":{"issue":"834","published-online":{"date-parts":[[1995,4,1]]},"published-print":{"date-parts":[[1995,4,1]]}},"URL":"https:\/\/doi.org\/10.1136\/pgmj.71.834.245","relation":{},"ISSN":["0032-5473","1469-0756"],"issn-type":[{"value":"0032-5473","type":"print"},{"value":"1469-0756","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[1995,4]]},"published":{"date-parts":[[1995,4,1]]}}}