{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,17]],"date-time":"2024-09-17T10:48:42Z","timestamp":1726570122131},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1971,9,1]],"date-time":"1971-09-01T00:00:00Z","timestamp":52531200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Neuropathol"],"published-print":{"date-parts":[[1971,9]]},"DOI":"10.1007\/bf00685068","type":"journal-article","created":{"date-parts":[[2004,11,28]],"date-time":"2004-11-28T14:17:03Z","timestamp":1101651423000},"page":"224-233","source":"Crossref","is-referenced-by-count":7,"title":["Peculiar dysmorphic syndrome with orthochromatic leucodystrophy"],"prefix":"10.1007","volume":"18","author":[{"given":"J. J.","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Deberdt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Philippart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. J.","family":"Van Acker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Hooft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","volume-title":"Congenital facial anomalies with neurologic defects. A clinical atlas","author":"J. A. Aita","year":"1969","unstructured":"Aita, J. A.: Congenital facial anomalies with neurologic defects. A clinical atlas. Springfield Ill.: Ch. C. Thomas 1969."},{"key":"CR2","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1136\/jnnp.29.2.129","volume":"29","author":"A. Bignami","year":"1966","unstructured":"Bignami, A., Maccagnani, F., Zappella, M., Tingey, A. H.: Familial infantile spasms and hypsarrhythmia associated with leucodystrophy. J. Neurol. Neurosurg. Psychiat.29, 129?134 (1966).","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"key":"CR3","first-page":"1","volume":"23","author":"C. Hooft","year":"1968","unstructured":"Hooft, C., De Hauwere, R., Van Acker, K. J.: Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreoathetosis. Helv. paediat. Acta23, 1?12 (1968).","journal-title":"Helv. paediat. Acta"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1192\/bjp.85.354.22","volume":"85","author":"B. Horanyi-Hechst","year":"1939","unstructured":"Horanyi-Hechst, B., Meyer, A.: Diffuse sclerosis with preserved myelin islands: a pathological report of a case with a note on cerebral involvement in Raynaud's disease. J. ment. Sci.85, 22?28 (1939).","journal-title":"J. ment. Sci."},{"key":"CR5","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1097\/00005072-195404000-00002","volume":"13","author":"G. A. Jervis","year":"1954","unstructured":"Jervis, G. A.: Microcephaly with extensive calcium deposits and demyelination. J. Neuropath. exp. Neurol.13, 318?329 (1954).","journal-title":"J. Neuropath. exp. Neurol."},{"key":"CR6","first-page":"173 to 199","volume-title":"Modern trends in neurology, vol. 3","author":"R. M. Norman","year":"1962","unstructured":"Norman, R. M.: Lipid disease of the brain. In: Modern trends in neurology, vol. 3, pp. 173 to 199. D. Williams (ed.) London: Butterworths 1962a."},{"key":"CR7","first-page":"324","volume-title":"Greenfield's Neuropathology","author":"R. M. Norman","year":"1963","unstructured":"?: Malformations of the nervous system, birth injury and diseases of early life. In: Greenfield's Neuropathology, pp. 324?440. W. Blackwood, W. H. McMenemey, A. Meyer, R. M. Norman, and D. S. Russel (eds.). London: Ed. Arnold 1963."},{"key":"CR8","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1136\/jnnp.29.6.521","volume":"29","author":"R. M. Norman","year":"1966","unstructured":"?, Tingey, A. H., Harvey, P. W., Gregory A. M.: Pelizaeus-Merzbcher disease: a form of sudanophilic leucodystrophy. J. Neurol. Neurosurg. Psychiat.29, 521?529 (1966).","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"key":"CR9","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1136\/jnnp.25.4.363","volume":"25","author":"R. M. Norman","year":"1962","unstructured":"??, Valentine, J. C., Danby, T. A.: Sudanophilic leucodystrophy in a pachygyric brain. J. Neurol. Neurosurg. Psychiat.25, 363?369 (1962b).","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"key":"CR10","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1136\/jnnp.30.1.75","volume":"30","author":"R. M. Norman","year":"1967","unstructured":"???, Hislop, H. J.: Sudanophilic leucodystrophy: a study of inter-sib variation in the form taken by the demyelinating process. J. Neurol. Neurosurg. Psychiat.30, 75?82 (1967).","journal-title":"J. Neurol. Neurosurg. Psychiat."},{"key":"CR11","volume-title":"Handbook of clinical neurology, vol. 10","author":"J. Peiffer","year":"1970","unstructured":"Peiffer, J.: The pure leucodystrophic forms of orthochromatic leucodystrophies (simple type, pigment-type). In: Handbook of clinical neurology, vol. 10. P. J. Vinken and G. W. Bruyn (eds.) Amsterdam: North-Holland Publ. Co. 1970 and personal communication 1970."},{"key":"CR12","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1001\/archneur.1969.00480090015001","volume":"20","author":"M. Philippart","year":"1969","unstructured":"Philippart, M., Martin, L., Martin, J. J., Menkes, J. H.: Niemann-Pick disease. Morphological and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C). Arch. Neurol. (Chic.)20, 227?238 (1969).","journal-title":"Arch. Neurol. (Chic.)"},{"key":"CR13","first-page":"767","volume-title":"Pathology of the nervous system, Vol. 1","author":"C. M. Poser","year":"1968","unstructured":"Poser, C. M.: Diseases of the myelin sheath. In: Pathology of the nervous system, Vol. 1, pp. 767?821. J. Minckler (ed.). New York: McGraw-Hill Book Co. 1968."},{"key":"CR14","first-page":"228","volume":"9","author":"F. Seitelberger","year":"1954","unstructured":"Seitelberger F.: Die Pelizaeus-Merzbachersche Krankheit. Klinische-anatomische Untersuchung zum Problem ihrer Stellung unter den diffusen Sklerosen. Wien. Z. Nervenheilk.,9, 228?289 (1954).","journal-title":"Wien. Z. Nervenheilk."},{"key":"CR15","first-page":"150","volume-title":"Handbook of clinical neurology, vol. 10","author":"F. Seitelberger","year":"1970","unstructured":"?: Pelizaeus-Merzbacher disease. In: Handbook of clinical neurology, vol. 10, pp. 150?202. P. J. Vinken and G. W. Bruyn (eds.) Amsterdam: North-Holland Publ. Co. 1970 and personal communication 1970."},{"key":"CR16","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1001\/archneur.1968.00470320015001","volume":"18","author":"B. Thulin","year":"1968","unstructured":"Thulin, B., McTaggart, D., Neubuerger, K. T.: Demyelinating leucodystrophy with total cortical cerebellar atrophy. Arch. Neurol. (Chic.)18, 113?122 (1968).","journal-title":"Arch. Neurol. (Chic.)"}],"container-title":["Acta Neuropathologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00685068.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00685068\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00685068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,5]],"date-time":"2019-04-05T10:10:11Z","timestamp":1554459011000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00685068"}},"subtitle":["Discussion of its relationship with Cockayne's syndrome and Pelizaeus-Merzbacher's disease"],"short-title":[],"issued":{"date-parts":[[1971,9]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1971,9]]}},"alternative-id":["BF00685068"],"URL":"https:\/\/doi.org\/10.1007\/bf00685068","relation":{},"ISSN":["0001-6322","1432-0533"],"issn-type":[{"value":"0001-6322","type":"print"},{"value":"1432-0533","type":"electronic"}],"subject":[],"published":{"date-parts":[[1971,9]]}}}