{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T04:17:08Z","timestamp":1776917828586,"version":"3.51.2"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,2,27]],"date-time":"2002-02-27T00:00:00Z","timestamp":1014768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2002,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This case report is of a patient with 46XY pure gonadal dysgenesis, who presented with chronic progressive motor and sensory polyneuropathy. The sural nerve biopsy exhibited minifascicle formations accompanied by a marked decrease in myelinated fibers. This is the first report of polyneuropathy with minifascicle formations in 46XY pure gonadal dysgenesis. Because a similar polyneuropathy was recently reported in a case with 46XY partial gonadal dysgenesis, it is possible that these cases represent a new type of hereditary motor and sensory neuropathy associated with gonadal dysgenesis.<\/jats:p>","DOI":"10.1002\/ana.10150","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:10:52Z","timestamp":1030317052000},"page":"385-388","source":"Crossref","is-referenced-by-count":17,"title":["Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: A new clinical entity"],"prefix":"10.1002","volume":"51","author":[{"given":"Kazuma","family":"Sugie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naonobu","family":"Futamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Suzumura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genshu","family":"Tate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fujio","family":"Umehara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,2,28]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-0436.1993.tb00625.x"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004010051085"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2990.1979.tb00644.x"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1159\/000015495"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/321210"},{"key":"e_1_2_5_7_2","first-page":"27","article-title":"Expression of sonic hedgehog and its receptor patched\/smoothened in human cancer cell lines and embryonic organs","volume":"4","author":"Tate G","year":"2000","journal-title":"J Biochem Mol Biol Biophys"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/348448a0"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1187"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(91)90051-R"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00696792"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00305877"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030504"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.10150","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.10150","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T04:32:10Z","timestamp":1697517130000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.10150"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2,28]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2002,3]]}},"alternative-id":["10.1002\/ana.10150"],"URL":"https:\/\/doi.org\/10.1002\/ana.10150","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2,28]]}}}