{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:39:27Z","timestamp":1791207567133,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["autonomicneuroscience.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Autonomic Neuroscience"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1016\/j.autneu.2012.10.012","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T08:11:43Z","timestamp":1353399103000},"page":"26-30","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":40,"title":["Familial dysautonomia (Riley\u2013Day syndrome): When baroreceptor feedback fails"],"prefix":"10.1016","volume":"172","author":[{"given":"Lucy","family":"Norcliffe-Kaufmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horacio","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.autneu.2012.10.012_bb0005","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1086\/318808","article-title":"Familial dysautonomia is caused by mutations of the IKAP gene","volume":"68","author":"Anderson","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0010","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1161\/01.HYP.23.4.491","article-title":"Baroreflex failure in a patient with central nervous system lesions involving the nucleus tractus solitarii","volume":"23","author":"Biaggioni","year":"1994","journal-title":"Hypertension"},{"key":"10.1016\/j.autneu.2012.10.012_bb0015","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng0693-160","article-title":"Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis","volume":"4","author":"Blumenfeld","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0020","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1086\/302339","article-title":"Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31","volume":"64","author":"Blumenfeld","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0025","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1097\/00005792-197009000-00001","article-title":"Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature","volume":"49","author":"Brunt","year":"1970","journal-title":"Medicine"},{"key":"10.1016\/j.autneu.2012.10.012_bb0030","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1093\/hmg\/ddm157","article-title":"IKAP\/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination","volume":"16","author":"Cheishvili","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0035","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.molcel.2006.04.017","article-title":"Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia","volume":"22","author":"Close","year":"2006","journal-title":"Mol. Cell"},{"key":"10.1016\/j.autneu.2012.10.012_bb0040","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1126\/science.328.5976.298","article-title":"Chasing a disease to the vanishing point","volume":"328","author":"Couzin-Frankel","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.autneu.2012.10.012_bb0045","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1097\/00005072-197811000-00003","article-title":"The number and sizes of reconstructed peripheral autonomic, sensory and motor neurons in a case or dysautonomia","volume":"37","author":"Dyck","year":"1978","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0050","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1093\/brain\/108.2.423","article-title":"Sympathetic outflow in man after anaesthesia of the glossopharyngeal and vagus nerves","volume":"108","author":"Fagius","year":"1985","journal-title":"Brain"},{"key":"10.1016\/j.autneu.2012.10.012_bb0055","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/S0022-3476(65)80115-9","article-title":"Respiratory control in familial dysautonomia","volume":"66","author":"Filler","year":"1965","journal-title":"J. Pediatr."},{"key":"10.1016\/j.autneu.2012.10.012_bb0060","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1001\/archneur.1967.00470250107012","article-title":"Spinal cord changes in familial dysautonomia","volume":"17","author":"Fogelson","year":"1967","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0065","doi-asserted-by":"crossref","first-page":"3047","DOI":"10.1074\/jbc.M110445200","article-title":"Purification and characterization of the human elongator complex","volume":"277","author":"Hawkes","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.autneu.2012.10.012_bb0070","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1212\/WNL.42.3.590","article-title":"Hypotension-induced vasopressin release distinguishes between pure autonomic failure and multiple system atrophy with autonomic failure","volume":"42","author":"Kaufmann","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.autneu.2012.10.012_bb0075","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/nature08320","article-title":"Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs","volume":"461","author":"Lee","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.autneu.2012.10.012_bb0080","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1089\/109065703322146830","article-title":"Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews","volume":"7","author":"Lehavi","year":"2003","journal-title":"Genet. Test."},{"key":"10.1016\/j.autneu.2012.10.012_bb0085","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajmg.a.20052","article-title":"Identification of the first non-Jewish mutation in familial dysautonomia","volume":"118A","author":"Leyne","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.autneu.2012.10.012_bb0090","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1111\/j.1399-0004.1987.tb03334.x","article-title":"Incidence of familial dysautonomia in Israel 1977\u20131981","volume":"32","author":"Maayan","year":"1987","journal-title":"Clin. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0095","unstructured":"Macefield, V.G., Norcliffe-Kaufmann, L., Axelrod, F., Kaufmann, H. in press. Can lack of muscle spindles explain gait ataxia in Riley Day syndrome? Brain."},{"key":"10.1016\/j.autneu.2012.10.012_bb0100","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/0022-510X(70)90083-3","article-title":"Clinical neurological aspects of familial dysautonomia","volume":"11","author":"Mahloudji","year":"1970","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.autneu.2012.10.012_bb0105","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1001\/archneur.1974.00490380076010","article-title":"Carbidopa in Parkinson disease and in nausea and vomiting of levodopa","volume":"31","author":"Markham","year":"1974","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0110","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1038\/nm0798-755","article-title":"Alpha synuclein in neurodegenerative disorders: murderer or accomplice? [In Process Citation]","volume":"4","author":"Mezey","year":"1998","journal-title":"Nat. Med."},{"key":"10.1016\/j.autneu.2012.10.012_bb0115","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1006\/frne.1994.1012","article-title":"The area postrema and vomiting","volume":"15","author":"Miller","year":"1994","journal-title":"Front. Neuroendocrinol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0120","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1212\/WNL.0b013e3181feb283","article-title":"Afferent baroreflex failure in familial dysautonomia","volume":"75","author":"Norcliffe-Kaufmann","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.autneu.2012.10.012_bb0125","article-title":"Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome","author":"Norcliffe-Kaufmann","year":"2011","journal-title":"J. Hum. Hypertens."},{"key":"10.1016\/j.autneu.2012.10.012_bb0130","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1007\/s00246-009-9497-z","article-title":"Echocardiographic abnormalities in familial dysautonomia","volume":"30","author":"Nussinovitch","year":"2009","journal-title":"Pediatr. Cardiol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0135","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/0022-510X(78)90187-9","article-title":"Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia","volume":"39","author":"Pearson","year":"1978","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.autneu.2012.10.012_bb0140","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1126\/science.39339","article-title":"Tyrosine hydroxylase immunoreactivity in familial dysautonomia","volume":"206","author":"Pearson","year":"1979","journal-title":"Science"},{"key":"10.1016\/j.autneu.2012.10.012_bb0145","doi-asserted-by":"crossref","DOI":"10.2215\/CJN.01750210","article-title":"Renal transplantation in familial dysautonomia: report of two cases and review of the literature","author":"Rekhtman","year":"2010","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0150","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1001\/jama.1952.02930340016006","article-title":"Familial autonomic dysfunction","volume":"149","author":"Riley","year":"1952","journal-title":"J. Am. Med. Assoc."},{"key":"10.1016\/j.autneu.2012.10.012_bb0155","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","article-title":"Central autonomic dysfunction with defective lacrimation: I. Report of five cases","volume":"3","author":"Riley","year":"1949","journal-title":"Pediatrics"},{"key":"10.1016\/j.autneu.2012.10.012_bb0160","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1542\/peds.14.5.475","article-title":"Further observations on familial dysautonomia","volume":"14","author":"Riley","year":"1954","journal-title":"Pediatrics"},{"key":"10.1016\/j.autneu.2012.10.012_bb0165","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng0295-152","article-title":"Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population","volume":"9","author":"Risch","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0170","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1056\/NEJM199311113292003","article-title":"The diagnosis and treatment of baroreflex failure","volume":"329","author":"Robertson","year":"1993","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.autneu.2012.10.012_bb0175","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1097\/00005344-200109000-00011","article-title":"Arterial baroreflex deficit induced organ damage in sinoaortic denervated rats","volume":"38","author":"Shan","year":"2001","journal-title":"J. Cardiovasc. Pharmacol."},{"key":"10.1016\/j.autneu.2012.10.012_bb0180","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1086\/318810","article-title":"Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia","volume":"68","author":"Slaugenhaupt","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.autneu.2012.10.012_bb0185","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1126\/science.147.3661.1040","article-title":"Absence of taste-bud papillae in familial dysautonomia","volume":"147","author":"Smith","year":"1964","journal-title":"Science"},{"key":"10.1016\/j.autneu.2012.10.012_bb0190","article-title":"Complicated peptic ulcer disease in three patients with familial dysautonomia","author":"Wan","year":"2010","journal-title":"J. Clin. Gastroenterol."}],"container-title":["Autonomic Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1566070212001804?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1566070212001804?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T12:02:38Z","timestamp":1761566558000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1566070212001804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":38,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["S1566070212001804"],"URL":"https:\/\/doi.org\/10.1016\/j.autneu.2012.10.012","relation":{},"ISSN":["1566-0702"],"issn-type":[{"value":"1566-0702","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Familial dysautonomia (Riley\u2013Day syndrome): When baroreceptor feedback fails","name":"articletitle","label":"Article Title"},{"value":"Autonomic Neuroscience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.autneu.2012.10.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}