{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T12:49:47Z","timestamp":1788871787500,"version":"build-2803163510"},"reference-count":37,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008382","name":"Fundo Regional para a Ci\u00eancia e Tecnologia","doi-asserted-by":"publisher","award":["PTDC\/SAL-NEU\/66740\/2006"],"award-info":[{"award-number":["PTDC\/SAL-NEU\/66740\/2006"]}],"id":[{"id":"10.13039\/100008382","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Disease"],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1016\/j.nbd.2008.09.001","type":"journal-article","created":{"date-parts":[[2008,9,25]],"date-time":"2008-09-25T04:47:57Z","timestamp":1222318077000},"page":"48-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":44,"title":["Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice"],"prefix":"10.1016","volume":"33","author":[{"given":"L.G.","family":"Rodrigues","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Ferraz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Rodrigues","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pais-Vieira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.O.","family":"Brady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.M.","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.C.","family":"S\u00e1-Miranda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nbd.2008.09.001_bib1","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2008.09.001_bib2","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1113\/jphysiol.1980.sp013465","article-title":"Ultrastructural dimensions of myelinated peripheral nerve fibres in the cat and their relation to conduction velocity","volume":"308","author":"Arbuthnott","year":"1980","journal-title":"J. Physiol."},{"key":"10.1016\/j.nbd.2008.09.001_bib3","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1007\/s00428-007-0468-6","article-title":"Cellular and tissue localization of globotriaosylceramide in Fabry disease","volume":"451","author":"Askari","year":"2007","journal-title":"Virchows Arch."},{"key":"10.1016\/j.nbd.2008.09.001_bib4","doi-asserted-by":"crossref","first-page":"3903","DOI":"10.1073\/pnas.85.11.3903","article-title":"Structural organization of the human alpha-galactosidase a gene: further evidence for the absence of a 3\u2032 untranslated region","volume":"85","author":"Bishop","year":"1988","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2008.09.001_bib5","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/0165-3806(87)90181-7","article-title":"Glial filament protein expression in astroglia in the mouse visual pathway","volume":"430","author":"Bovolenta","year":"1987","journal-title":"Brain Res."},{"key":"10.1016\/j.nbd.2008.09.001_bib6","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency","volume":"276","author":"Brady","year":"1967","journal-title":"N. Engl. J. Med."},{"issue":"Pt. 4","key":"10.1016\/j.nbd.2008.09.001_bib7","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1046\/j.1469-7580.1999.19540563.x","article-title":"Morphometric and ultrastructural changes with ageing in mouse peripheral nerve","volume":"195","author":"Ceballos","year":"1999","journal-title":"J. Anat."},{"key":"10.1016\/j.nbd.2008.09.001_bib8","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1023\/B:BOLI.0000031101.12838.c6","article-title":"Enzyme replacement and enhancement therapies for lysosomal diseases","volume":"27","author":"Desnick","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.nbd.2008.09.001_bib9","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/j.jpeds.2004.01.051","article-title":"Fabry disease in childhood","volume":"144","author":"Desnick","year":"2004","journal-title":"J. Pediatr."},{"key":"10.1016\/j.nbd.2008.09.001_bib37","series-title":"The Metabolic and Molecular Bases of Inherited Disease","first-page":"3733","article-title":"a-galactosidase A deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.nbd.2008.09.001_bib10","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1097\/00004691-200212000-00011","article-title":"Small fiber dysfunction predominates in Fabry neuropathy","volume":"19","author":"Dutsch","year":"2002","journal-title":"J. Clin. Neurophysiol."},{"key":"10.1016\/j.nbd.2008.09.001_bib11","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1111\/j.1471-4159.2007.04828.x","article-title":"Transthyretin enhances nerve regeneration","volume":"103","author":"Fleming","year":"2007","journal-title":"J. Neurochem."},{"key":"10.1016\/j.nbd.2008.09.001_bib12","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1136\/jmg.20.4.309","article-title":"Involvement of dorsal root ganglia in Fabry's disease","volume":"20","author":"Gadoth","year":"1983","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.nbd.2008.09.001_bib13","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0022-510X(03)00172-2","article-title":"Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease","volume":"214","author":"Gomes","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.nbd.2008.09.001_bib14","doi-asserted-by":"crossref","first-page":"307","DOI":"10.2190\/JKFW-3WXK-QA7N-BYLN","article-title":"Psychiatric disorders in patients with Fabry's disease","volume":"23","author":"Grewal","year":"1993","journal-title":"Int. J. Psychiatry Med."},{"key":"10.1016\/j.nbd.2008.09.001_bib15","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0166-4328(01)00275-3","article-title":"Development of SHIRPA to characterise the phenotype of gene-targeted mice","volume":"125","author":"Hatcher","year":"2001","journal-title":"Behav. Brain Res."},{"key":"10.1016\/j.nbd.2008.09.001_bib16","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0304-3959(99)00236-5","article-title":"Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients","volume":"84","author":"Hilz","year":"2000","journal-title":"Pain"},{"key":"10.1016\/j.nbd.2008.09.001_bib17","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1212\/01.WNL.0000118207.84514.40","article-title":"Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy","volume":"62","author":"Hilz","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.nbd.2008.09.001_bib18","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1086\/316953","article-title":"Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase a replacement in enzyme-deficient mice","volume":"68","author":"Ioannou","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.nbd.2008.09.001_bib19","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/ana.410230513","article-title":"Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation","volume":"23","author":"Kaye","year":"1988","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nbd.2008.09.001_bib20","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1007\/BF02533991","article-title":"Two procedures to remove polar contaminants from a crude brain lipid extract by using prepacked reversed-phase columns","volume":"22","author":"Kyrklund","year":"1987","journal-title":"Lipids"},{"key":"10.1016\/j.nbd.2008.09.001_bib21","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/mus.20130","article-title":"Neuropathy and Fabry's disease","volume":"31","author":"Lacomis","year":"2005","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nbd.2008.09.001_bib22","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/mus.10236","article-title":"Physiological characterization of neuropathy in Fabry's disease","volume":"26","author":"Luciano","year":"2002","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nbd.2008.09.001_bib23","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson\u2013Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.nbd.2008.09.001_bib24","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.nbd.2008.09.001_bib25","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/j.febslet.2004.11.100","article-title":"Sphingomyelinase causes endothelium-dependent vasorelaxation through endothelial nitric oxide production without cytosolic Ca(2+) elevation","volume":"579","author":"Mogami","year":"2005","journal-title":"FEBS Lett."},{"key":"10.1016\/j.nbd.2008.09.001_bib26","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1073\/pnas.94.6.2540","article-title":"Alpha-Galactosidase a deficient mice: a model of Fabry disease","volume":"94","author":"Ohshima","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2008.09.001_bib27","doi-asserted-by":"crossref","first-page":"6423","DOI":"10.1073\/pnas.96.11.6423","article-title":"Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice","volume":"96","author":"Ohshima","year":"1999","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.nbd.2008.09.001_bib28","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1001\/archneur.1974.00490380068009","article-title":"Loss of small peripheral sensory neurons in Fabry disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns","volume":"31","author":"Onishi","year":"1974","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.nbd.2008.09.001_bib29","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1007\/s00431-003-1299-3","article-title":"The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents","volume":"162","author":"Ries","year":"2003","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.nbd.2008.09.001_bib30","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1097\/01.gim.0000200950.25118.dd","article-title":"Quantitative dysmorphology assessment in Fabry disease","volume":"8","author":"Ries","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.nbd.2008.09.001_bib31","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1007\/s003359900551","article-title":"Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment","volume":"8","author":"Rogers","year":"1997","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.nbd.2008.09.001_bib32","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1097\/00041444-200412000-00006","article-title":"Psychiatric findings in four female carriers of Fabry disease","volume":"14","author":"Sadek","year":"2004","journal-title":"Psychiatr. Genet."},{"key":"10.1016\/j.nbd.2008.09.001_bib33","doi-asserted-by":"crossref","first-page":"20960","DOI":"10.1074\/jbc.M702436200","article-title":"Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase a null mice","volume":"282","author":"Shu","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.nbd.2008.09.001_bib34","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1002\/1097-4598(200008)23:8<1179::AID-MUS4>3.0.CO;2-7","article-title":"Cutaneous silent periods in patients with Fabry disease","volume":"23","author":"Syed","year":"2000","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nbd.2008.09.001_bib35","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/S0022-2275(20)38884-2","article-title":"Quantitative determination of the neutral glycosyl ceramides in human blood","volume":"8","author":"Vance","year":"1967","journal-title":"J. Lipid Res."},{"key":"10.1016\/j.nbd.2008.09.001_bib36","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S0166-4328(01)00281-9","article-title":"Measuring pain in the (knockout) mouse: big challenges in a small mammal","volume":"125","author":"Wilson","year":"2001","journal-title":"Behav. Brain Res."}],"container-title":["Neurobiology of Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996108002246?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0969996108002246?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T05:03:30Z","timestamp":1760850210000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0969996108002246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,1]]},"references-count":37,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["S0969996108002246"],"URL":"https:\/\/doi.org\/10.1016\/j.nbd.2008.09.001","relation":{},"ISSN":["0969-9961"],"issn-type":[{"value":"0969-9961","type":"print"}],"subject":[],"published":{"date-parts":[[2009,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nbd.2008.09.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}