{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:19:34Z","timestamp":1761016774007},"reference-count":12,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1975,10,1]]},"DOI":"10.1136\/jnnp.38.10.994","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:02:42Z","timestamp":1226350962000},"page":"994-999","source":"Crossref","is-referenced-by-count":21,"title":["An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis."],"prefix":"10.1136","volume":"38","author":[{"given":"M L","family":"Arsenio-Nunes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Goutieres","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1212\/WNL.22.2.170","article-title":"Specific involvement of muscle, nerve and skin in late infantile and juvenile amaurotic idiocy","volume":"22","author":"Carpenter, S.; Karpati, G.; Andermann, F.","year":"1972","unstructured":"Carpenter, S., Karpati, G., and Andermann, F. (1972). Specific involvement of muscle, nerve and skin in late infantile and juvenile amaurotic idiocy. Neurology (Minneap.), 22, 170-1 86.","journal-title":"Neurology (Minneap.)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/0022-510X(73)90021-X","article-title":"A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits","volume":"18","author":"Carpenter, S.; Karpati, G.; Wolfe, L.S.; Andermann, F.","year":"1973","unstructured":"Carpenter, S., Karpati, G., Wolfe, L. S., and Andermann, F. (1973). A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits. Journal of the Neurological Sciences, 18, 67-87.","journal-title":"Journal of the Neurological Sciences"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1097\/00005072-196807000-00001","article-title":"Neurovisceral storage disease with curvilinear bodies","volume":"27","author":"Duffy, P.E.; Kornfeld, M.; Suzuki, K.","year":"1968","unstructured":"Duffy, P. E., Kornfeld, M., and Suzuki, K. (1968). Neurovisceral storage disease with curvilinear bodies. Journal of Neuropathology, and Experimental Neuirology, 27, 351-370.","journal-title":"Journal of Neuropathology, and Experimental Neuirology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1212\/WNL.16.11.1130","article-title":"On the natural history of late infantile cerebromacular degeneration","volume":"16","author":"Fawcett, J.S.; Andermann, F.; Wiglesworth, F.W.; Smith, D.L.","year":"1966","unstructured":"Fawcett, J. S., Andermann, F., Wiglesworth, F. W., and Smith, D. L. (1966). On the natural history of late infantile cerebromacular degeneration. Neurology (Minneap.), 16, 1130-1134.","journal-title":"Neurology (Minneap.)"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF00697751","article-title":"Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies","volume":"26","author":"Haltia, M.; Rapola, J.; Santavuori, P.","year":"1973","unstructured":"Haltia, M., Rapola, J., and Santavuori, P. (1973). Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies. Acta Neuropathologica (Berl.), 26, 157-170.","journal-title":"Acta Neuropathologica (Berl.)"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/BF00687571","article-title":"The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease","volume":"21","author":"Haelst, U.J.G.M.van; Gabrees, F.J.M.","year":"1972","unstructured":"Haelst, U. J. G. M. van, and Gabrees, F. J. M. (1972). The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease. Acta Neuropathologica (Berl.), 21, 169-175.","journal-title":"Acta Neuropathologica (Berl.)"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1055\/s-0028-1091731","article-title":"Involvement of sural nerve in neuronal ceroid-lipofuscinosis","volume":"4","author":"Joosten, E.; Gabredls, F.; Stadhouders, A.; Bolmers, D.; Gabreels-Festen, A.","year":"1973","unstructured":"Joosten, E., Gabredls, F., Stadhouders, A., Bolmers, D., and Gabreels-Festen, A. (1973). Involvement of sural nerve in neuronal ceroid-lipofuscinosis. Neuropediatrie, 4, 98-110.","journal-title":"Neuropediatrie"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/BF00690677","article-title":"Visceral involvement in juvenile amaurotic idiocy","volume":"4","author":"Kristensson, K.; Rainer, S.; Sourander, P.","year":"1965","unstructured":"Kristensson, K., Rainer, S., and Sourander, P. (1965). Visceral involvement in juvenile amaurotic idiocy. Acta Neuropathologica (Berl.), 4, 421-424.","journal-title":"Acta Neuropathologica (Berl.)"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1159\/000114283","article-title":"Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies","volume":"10","author":"Martin, J.J.; Jacobs, K.","year":"1973","unstructured":"Martin, J. J., and Jacobs, K. (1973). Skin biopsy as a contribution to diagnosis in late infantile amaurotic idiocy with curvilinear bodies. European Neurology, 10, 281-291.","journal-title":"European Neurology"},{"key":"ref_10","first-page":"833840","article-title":"Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so called neuronal ceroid-lipofuscinosis","volume":"96","author":"Rapola, J.; Haltia, M.","year":"1973","unstructured":"Rapola, J., and Haltia, M. (1973). Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so called neuronal ceroid-lipofuscinosis. Brain, 96, 833840.","journal-title":"Brain"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/0022-510X(73)90075-0","article-title":"Infantile type of so-called neuronal ceroid-lipofuscinosis. A clinical study of 15 patients","volume":"18","author":"Santavuori, P.; Haltia, M.; Rapola, J.; Raitta, C.","year":"1973","unstructured":"Santavuori, P., Haltia, M., Rapola, J., and Raitta, C. (1973). Infantile type of so-called neuronal ceroid-lipofuscinosis. A clinical study of 15 patients. Journal of the Neurological Sciences, 18, 257-267.","journal-title":"Journal of the Neurological Sciences"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/S0022-3476(71)80115-4","article-title":"Ultrastructural studies in lateonset amaurotic idiocy: Lymphocyte inclusions as a diagnostic marker","volume":"79","author":"Witzleben, C.L.; Smith, K.; Nelson, J.S.; Monteleone, P.L.; D, Livingston","year":"1971","unstructured":"Witzleben, C. L., Smith, K., Nelson, J. S., Monteleone, P. L., and Livingston D. (1971). Ultrastructural studies in lateonset amaurotic idiocy: Lymphocyte inclusions as a diagnostic marker. Journal of Pediatrics, 79, 285-293.","journal-title":"Journal of Pediatrics"}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.38.10.994","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T02:31:41Z","timestamp":1601087501000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.38.10.994"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,10,1]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1975,10,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.38.10.994","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1975,10,1]]}}}