{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T17:35:19Z","timestamp":1782927319927,"version":"3.54.5"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1097\/cnd.0000000000000014","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T09:17:10Z","timestamp":1385025430000},"page":"47-51","source":"Crossref","is-referenced-by-count":11,"title":["Adult Sandhoff Disease With 2 Mutations in the HEXB Gene Presenting as Brachial Amyotrophic Diplegia"],"prefix":"10.1097","volume":"15","author":[{"given":"Sa-Yoon","family":"Kang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sook Keun","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Seok","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay Chol","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji-Hoon","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R2-3-20210126","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0079-6123(08)61937-8","article-title":"Ganglioside metabolism: enzymology, topology and regulation.","volume":"101","author":"Sandhoff","year":"1994","journal-title":"Prog Brain Res"},{"key":"R3-3-20210126","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/S0925-4439(99)00074-5","article-title":"Biochemical consequences of mutations causing the GM2 gangliosidoses.","volume":"1455","author":"Mahuran","year":"1999","journal-title":"Biochim Biophys Acta"},{"key":"R4-3-20210126","first-page":"31","article-title":". Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype.","volume":"1","author":"Jellinger","year":"1982","journal-title":"Clin Neuropathol"},{"key":"R5-3-20210126","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/ana.410240316","article-title":"Hexosaminidase A deficiency manifesting as spinal muscular atrophy of late onset.","volume":"24","author":"Karni","year":"1988","journal-title":"Ann Neurol"},{"key":"R6-3-20210126","first-page":"19","article-title":"GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.","volume":"209","author":"Federico","year":"1987","journal-title":"Adv Exp Med Biol"},{"key":"R7-3-20210126","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/BF00191799","article-title":". A common beta hexosaminidase gene mutation in an adult Sandhoff disease patients.","volume":"96","author":"Gomez-Lira","year":"1995","journal-title":"Hum Genet"},{"key":"R8-3-20210126","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0022-510X(02)00007-2","article-title":". Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.","volume":"195","author":"Yoshizawa","year":"2002","journal-title":"J Neurol Sci"},{"key":"R9-3-20210126","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1136\/jnnp.2009.177089","article-title":". New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.","volume":"81","author":"Delnooz","year":"2010","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R10-3-20210126","doi-asserted-by":"crossref","first-page":"950","DOI":"10.4103\/0028-3886.73755","article-title":". A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.","volume":"58","author":"Ahn","year":"2010","journal-title":"Neurol India"},{"key":"R11-3-20210126","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/ana.410190608","article-title":". N-acetyl--hexosaminidase locus defect and juvenile motor neuron disease: a case study.","volume":"19","author":"Cashman","year":"1986","journal-title":"Ann Neurol"},{"key":"R12-3-20210126","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/0022-510X(88)90058-5","article-title":". Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency.","volume":"87","author":"Rubin","year":"1988","journal-title":"J Neurol Sci"},{"key":"R13-3-20210126","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1212\/WNL.53.5.1071","article-title":". Brachial amyotrophic diplegia: a slowly progressive motor neuron disorder.","volume":"53","author":"Katz","year":"1999","journal-title":"Neurology"},{"key":"R14-3-20210126","doi-asserted-by":"crossref","first-page":"1087","DOI":"10.1212\/01.wnl.0000345041.83406.a2","article-title":". Natural history and clinical features of the flail arm and flail leg ALS variants.","volume":"72","author":"Wijesekera","year":"2009","journal-title":"Neurology"},{"key":"R15-3-20210126","doi-asserted-by":"crossref","first-page":"7599","DOI":"10.1021\/bi960246+","article-title":". Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.","volume":"35","author":"Tse","year":"1996","journal-title":"Biochemistry"},{"key":"R16-3-20210126","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/BF02278152","article-title":". MRI in a case of Sandhoffs disease.","volume":"38","author":"Hittmair","year":"1996","journal-title":"Neuroradiology"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/CND.0000000000000014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T20:24:36Z","timestamp":1621887876000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00131402-201312000-00003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0000000000000014","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}