{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T18:01:03Z","timestamp":1791482463397,"version":"4.3.4"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":650,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1111\/ahg.12045","type":"journal-article","created":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T09:16:37Z","timestamp":1384938997000},"page":"13-22","source":"Crossref","is-referenced-by-count":43,"title":["A Novel<i>GBA2<\/i>Gene Missense Mutation in Spastic Ataxia"],"prefix":"10.1111","volume":"78","author":[{"given":"Christina","family":"Votsi","sequence":"first","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics; Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Zamba-Papanicolaou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics; Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lefkos T.","family":"Middleton","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics; Nicosia Cyprus"},{"name":"Imperial College; London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marios","family":"Pantzaris","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics; Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyproula","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics; Nicosia Cyprus"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,20]]},"reference":[{"key":"10.1111\/ahg.12045-BIB0001|ahg12045-cit-0001","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-009-0196-y","article-title":"Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management","volume":"11","author":"Anheim","year":"2010","journal-title":"Neurogenetics"},{"key":"10.1111\/ahg.12045-BIB0002|ahg12045-cit-0002","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1093\/hmg\/4.9.1629","article-title":"Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p","volume":"4","author":"Christodoulou","year":"1995","journal-title":"Hum Mol Gen"},{"key":"10.1111\/ahg.12045-BIB0003|ahg12045-cit-0003","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1177\/0883073808314959","article-title":"Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis","volume":"23","author":"D'Arrigo","year":"2008","journal-title":"J Child Neurol"},{"key":"10.1111\/ahg.12045-BIB0004|ahg12045-cit-0004","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1212\/WNL.0b013e31826d5fb0","article-title":"Reviewing the genetic causes of spastic-ataxias","volume":"79","author":"De Bot","year":"2012","journal-title":"Neurology"},{"key":"10.1111\/ahg.12045-BIB0005|ahg12045-cit-0005","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S0140-6736(88)91378-5","article-title":"Friedreich's ataxia in Kathikas-Arodhes, Cyprus","volume":"1","author":"Dean","year":"1988","journal-title":"Lancet"},{"key":"10.1111\/ahg.12045-BIB0006|ahg12045-cit-0006","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ajhg.2011.07.012","article-title":"Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation","volume":"89","author":"Doi","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12045-BIB0007|ahg12045-cit-0007","doi-asserted-by":"crossref","first-page":"385","DOI":"10.3109\/10409239009090616","article-title":"Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease","volume":"25","author":"Grabowski","year":"1990","journal-title":"Crit Rev Biochem Mol Biol"},{"key":"10.1111\/ahg.12045-BIB0008|ahg12045-cit-0008","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2012.12.012","article-title":"Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity","volume":"92","author":"Hammer","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12045-BIB0009|ahg12045-cit-0009","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1016\/S0140-6736(83)92879-9","article-title":"Classification of the hereditary ataxias and paraplegias","volume":"1","author":"Harding","year":"1983","journal-title":"Lancet"},{"key":"10.1111\/ahg.12045-BIB0010|ahg12045-cit-0010","doi-asserted-by":"crossref","first-page":"3381","DOI":"10.1074\/jbc.M112.414714","article-title":"The non-lysosomal beta-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi","volume":"288","author":"Korschen","year":"2013","journal-title":"J Biol Chem"},{"key":"10.1111\/ahg.12045-BIB0011|ahg12045-cit-0011","first-page":"482","article-title":"Multilocus linkage analysis in humans: detection of linkage and estimation of recombination","volume":"37","author":"Lathrop","year":"1985","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12045-BIB0012|ahg12045-cit-0012","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.ajhg.2012.11.021","article-title":"Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia","volume":"92","author":"Martin","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12045-BIB0013|ahg12045-cit-0013","doi-asserted-by":"crossref","first-page":"37929","DOI":"10.1074\/jbc.M104290200","article-title":"Molecular cloning and expression of human bile acid beta-glucosidase","volume":"276","author":"Matern","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1111\/ahg.12045-BIB0014|ahg12045-cit-0014","doi-asserted-by":"crossref","first-page":"11261","DOI":"10.1074\/jbc.272.17.11261","article-title":"Purification and characterization of a microsomal bile acid beta-glucosidase from human liver","volume":"272","author":"Matern","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1111\/ahg.12045-BIB0015|ahg12045-cit-0015","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s00018-012-1038-x","article-title":"Ceramide function in the brain: when a slight tilt is enough","volume":"70","author":"Mencarelli","year":"2013","journal-title":"Cell Mol Life Sci"},{"key":"10.1111\/ahg.12045-BIB0016|ahg12045-cit-0016","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1086\/318191","article-title":"Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity","volume":"68","author":"Moreira","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1111\/ahg.12045-BIB0017|ahg12045-cit-0017","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/1471-2350-9-28","article-title":"A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia","volume":"9","author":"Nicolaou","year":"2008","journal-title":"BMC Med Genet"},{"key":"10.1111\/ahg.12045-BIB0018|ahg12045-cit-0018","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1186\/1750-1172-1-47","article-title":"Autosomal recessive cerebellar ataxias","volume":"1","author":"Palau","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"10.1111\/ahg.12045-BIB0019|ahg12045-cit-0019","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper-an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/ahg.12045-BIB0020|ahg12045-cit-0020","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(12)70190-4","article-title":"The link between the GBA gene and parkinsonism","volume":"11","author":"Sidransky","year":"2012","journal-title":"Lancet Neurol"},{"key":"10.1111\/ahg.12045-BIB0021|ahg12045-cit-0021","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1212\/WNL.0b013e3182735e9a","article-title":"GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology","volume":"79","author":"Tsuang","year":"2012","journal-title":"Neurology"},{"key":"10.1111\/ahg.12045-BIB0022|ahg12045-cit-0022","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJM198703053161002","article-title":"A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease","volume":"316","author":"Tsuji","year":"1987","journal-title":"N Engl J Med"},{"key":"10.1111\/ahg.12045-BIB0023|ahg12045-cit-0023","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.jns.2012.09.006","article-title":"Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations","volume":"323","author":"Votsi","year":"2012","journal-title":"J Neurol Sci"},{"key":"10.1111\/ahg.12045-BIB0024|ahg12045-cit-0024","doi-asserted-by":"crossref","first-page":"2985","DOI":"10.1172\/JCI29224","article-title":"Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility","volume":"116","author":"Yildiz","year":"2006","journal-title":"J Clin Invest"},{"key":"10.1111\/ahg.12045-BIB0025|ahg12045-cit-0025","first-page":"24","article-title":"High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus","volume":"28","author":"Zamba-Papanicolaou","year":"2009","journal-title":"Acta Myol"}],"container-title":["Annals of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fahg.12045","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1111\/ahg.12045\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,16]],"date-time":"2022-03-16T06:36:54Z","timestamp":1647412614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ahg.12045"}},"subtitle":["Novel<i>GBA2<\/i>Gene Mutation"],"short-title":[],"issued":{"date-parts":[[2013,11,20]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"URL":"https:\/\/doi.org\/10.1111\/ahg.12045","relation":{},"ISSN":["0003-4800"],"issn-type":[{"value":"0003-4800","type":"print"}],"subject":[],"published":{"date-parts":[[2013,11,20]]}}}