{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T01:26:55Z","timestamp":1788485215634,"version":"build-2803163510"},"reference-count":50,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T00:00:00Z","timestamp":1684454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T00:00:00Z","timestamp":1684454400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Auton Res"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1007\/s10286-023-00941-1","type":"journal-article","created":{"date-parts":[[2023,5,19]],"date-time":"2023-05-19T10:02:18Z","timestamp":1684490538000},"page":"269-280","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Familial dysautonomia"],"prefix":"10.1007","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2434-9560","authenticated-orcid":false,"given":"Alejandra","family":"Gonz\u00e1lez-Duarte","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cotrina-Vidal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horacio","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Norcliffe-Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,5,19]]},"reference":[{"issue":"4","key":"941_CR1","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","volume":"3","author":"CM Riley","year":"1949","unstructured":"Riley CM, Day RL et\u00a0al (1949) Central autonomic dysfunction with defective lacrimation; report of five cases. Pediatrics 3(4):468\u2013478","journal-title":"Pediatrics"},{"issue":"1","key":"941_CR2","first-page":"1","volume":"73","author":"HR Litchfield","year":"1956","unstructured":"Litchfield HR, Wagner HH (1956) Familial autonomic dysfunction Riley-Day syndrome. Arch Pediatr (N Y) 73(1):1\u20135","journal-title":"Arch Pediatr (N Y)"},{"issue":"2","key":"941_CR3","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/nrneurol.2011.227","volume":"8","author":"A Rotthier","year":"2012","unstructured":"Rotthier A, Baets J, Timmerman V, Janssens K (2012) Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol 8(2):73\u201385","journal-title":"Nat Rev Neurol"},{"key":"941_CR4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.pneurobio.2016.06.003","volume":"152","author":"L Norcliffe-Kaufmann","year":"2017","unstructured":"Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H (2017) Familial dysautonomia: history, genotype, phenotype and translational research. Prog Neurobiol 152:131\u2013148","journal-title":"Prog Neurobiol"},{"issue":"8","key":"941_CR5","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s11910-019-0974-3","volume":"19","author":"C Schwartzlow","year":"2019","unstructured":"Schwartzlow C, Kazamel M (2019) Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep 19(8):52","journal-title":"Curr Neurol Neurosci Rep"},{"issue":"3","key":"941_CR6","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1086\/318810","volume":"68","author":"SA Slaugenhaupt","year":"2001","unstructured":"Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP et\u00a0al (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68(3):598\u2013605","journal-title":"Am J Hum Genet"},{"issue":"1","key":"941_CR7","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1177\/2472555218792264","volume":"24","author":"M Salani","year":"2019","unstructured":"Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS et\u00a0al (2019) Development of a screening platform to identify small molecules that modify ELP1 Pre-mRNA splicing in familial dysautonomia. SLAS Discov 24(1):57\u201367","journal-title":"SLAS Discov"},{"issue":"4","key":"941_CR8","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1086\/302339","volume":"64","author":"A Blumenfeld","year":"1999","unstructured":"Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S et\u00a0al (1999) Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet 64(4):1110\u20131118","journal-title":"Am J Hum Genet"},{"issue":"25","key":"941_CR9","doi-asserted-by":"crossref","first-page":"4703","DOI":"10.1016\/j.cell.2022.11.002","volume":"185","author":"S Waldman","year":"2022","unstructured":"Waldman S, Backenroth D, Harney E, Flohr S, Neff NC, Buckley GM et\u00a0al (2022) Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14(th) century. Cell. 185(25):4703\u201316.e16","journal-title":"Cell."},{"issue":"4","key":"941_CR10","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajmg.a.20052","volume":"118A","author":"M Leyne","year":"2003","unstructured":"Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A et\u00a0al (2003) Identification of the first non-Jewish mutation in familial dysautonomia. Am J Med Genet A 118A(4):305\u2013308","journal-title":"Am J Med Genet A"},{"issue":"2","key":"941_CR11","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1016\/j.clinph.2017.11.010","volume":"129","author":"JV Gutierrez","year":"2018","unstructured":"Gutierrez JV, Kaufmann H, Palma JA, Mendoza-Santiesteban C, Macefield VG, Norcliffe-Kaufmann L (2018) Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. Clin Neurophysiol 129(2):390\u2013396","journal-title":"Clin Neurophysiol"},{"issue":"3","key":"941_CR12","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/j.ajhg.2023.01.019","volume":"110","author":"E Morini","year":"2023","unstructured":"Morini E, Chekuri A, Logan EM, Bolduc JM, Kirchner EG, Salani M et\u00a0al (2023) Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia. Am J Hum Genet 110(3):531\u2013547","journal-title":"Am J Hum Genet"},{"key":"941_CR13","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-023-01135-3","author":"M Kojic","year":"2023","unstructured":"Kojic M, Abbassi NEH, Lin TY, Jones A, Wakeling EL, Clement E et\u00a0al (2023) A novel ELP1 mutation impairs the function of the elongator complex and causes a severe neurodevelopmental phenotype. J Hum Genet. https:\/\/doi.org\/10.1038\/s10038-023-01135-3","journal-title":"J Hum Genet."},{"issue":"3","key":"941_CR14","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1002\/humu.22010","volume":"33","author":"N Boone","year":"2012","unstructured":"Boone N, Bergon A, Loriod B, Deveze A, Nguyen C, Axelrod FB et\u00a0al (2012) Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells. Hum Mutat 33(3):530\u2013540","journal-title":"Hum Mutat"},{"issue":"3","key":"941_CR15","doi-asserted-by":"crossref","first-page":"724","DOI":"10.1161\/HYPERTENSIONAHA.120.15267","volume":"76","author":"L Norcliffe-Kaufmann","year":"2020","unstructured":"Norcliffe-Kaufmann L, Palma JA, Martinez J, Kaufmann H (2020) Carbidopa for afferent baroreflex failure in familial dysautonomia: a double-blind randomized crossover clinical trial. Hypertension 76(3):724\u2013731","journal-title":"Hypertension"},{"issue":"17","key":"941_CR16","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1212\/WNL.0b013e31828f18f0","volume":"80","author":"L Norcliffe-Kaufmann","year":"2013","unstructured":"Norcliffe-Kaufmann L, Martinez J, Axelrod F, Kaufmann H (2013) Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa. Neurology 80(17):1611\u20131617","journal-title":"Neurology"},{"issue":"2","key":"941_CR17","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1056\/NEJMra1509723","volume":"382","author":"H Kaufmann","year":"2020","unstructured":"Kaufmann H, Norcliffe-Kaufmann L, Palma JA (2020) Baroreflex dysfunction. N Engl J Med 382(2):163\u2013178","journal-title":"N Engl J Med"},{"issue":"6","key":"941_CR18","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1097\/WNP.0000000000000604","volume":"36","author":"L Norcliffe-Kaufmann","year":"2019","unstructured":"Norcliffe-Kaufmann L (2019) The vagus and glossopharyngeal nerves in two autonomic disorders. J Clin Neurophysiol 36(6):443\u2013451","journal-title":"J Clin Neurophysiol"},{"issue":"5","key":"941_CR19","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1055\/s-0040-1713892","volume":"40","author":"L Norcliffe-Kaufmann","year":"2020","unstructured":"Norcliffe-Kaufmann L, Millar Vernetti P, Palma JA, Balgobin BJ, Kaufmann H (2020) Afferent baroreflex dysfunction: decreased or excessive signaling results in distinct phenotypes. Semin Neurol 40(5):540\u2013549","journal-title":"Semin Neurol"},{"issue":"11","key":"941_CR20","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1113\/EP085340","volume":"100","author":"C Fuente Mora","year":"2015","unstructured":"Fuente Mora C, Norcliffe-Kaufmann L, Palma JA, Kaufmann H (2015) Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response? Exp Physiol 100(11):1269\u20131279","journal-title":"Exp Physiol"},{"issue":"21","key":"941_CR21","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1212\/WNL.0b013e3181feb283","volume":"75","author":"L Norcliffe-Kaufmann","year":"2010","unstructured":"Norcliffe-Kaufmann L, Axelrod F, Kaufmann H (2010) Afferent baroreflex failure in familial dysautonomia. Neurology 75(21):1904\u20131911","journal-title":"Neurology"},{"issue":"1","key":"941_CR22","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10286-015-0323-9","volume":"26","author":"L Norcliffe-Kaufmann","year":"2016","unstructured":"Norcliffe-Kaufmann L, Palma JA, Kaufmann H (2016) Mother-induced hypertension in familial dysautonomia. Clin Auton Res 26(1):79\u201381","journal-title":"Clin Auton Res"},{"issue":"5976","key":"941_CR23","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1126\/science.328.5976.298","volume":"328","author":"J Couzin-Frankel","year":"2010","unstructured":"Couzin-Frankel J (2010) Chasing a disease to the vanishing point. Science 328(5976):298\u2013300","journal-title":"Science"},{"issue":"1","key":"941_CR24","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/jhh.2011.107","volume":"27","author":"L Norcliffe-Kaufmann","year":"2013","unstructured":"Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H (2013) Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens 27(1):51\u201355","journal-title":"J Hum Hypertens"},{"issue":"4","key":"941_CR25","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1016\/S0002-8703(77)80044-6","volume":"94","author":"R Reshef","year":"1977","unstructured":"Reshef R, Aderka D, Suprun H, Manelis G, Manelis J (1977) Myocardial infarction association with the Riley-Day syndrome. Am Heart J 94(4):486\u2013490","journal-title":"Am Heart J"},{"issue":"2","key":"941_CR26","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1097\/MCG.0b013e3182582cbf","volume":"47","author":"LJ Norcliffe-Kaufmann","year":"2013","unstructured":"Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H (2013) Cyclic vomiting associated with excessive dopamine in Riley-day syndrome. J Clin Gastroenterol 47(2):136\u2013138","journal-title":"J Clin Gastroenterol"},{"issue":"12","key":"941_CR27","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1056\/NEJM197603182941202","volume":"294","author":"MG Ziegler","year":"1976","unstructured":"Ziegler MG, Lake CR, Kopin IJ (1976) Deficient sympathetic nervous response in familial dysautonomia. N Engl J Med 294(12):630\u2013633","journal-title":"N Engl J Med"},{"issue":"1","key":"941_CR28","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/0022-510X(78)90193-4","volume":"39","author":"J Pearson","year":"1978","unstructured":"Pearson J, Pytel B (1978) Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia. J Neurol Sci 39(1):123\u2013130","journal-title":"J Neurol Sci"},{"issue":"3","key":"941_CR29","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s10286-008-0464-1","volume":"18","author":"DS Goldstein","year":"2008","unstructured":"Goldstein DS, Eldadah B, Sharabi Y, Axelrod FB (2008) Cardiac sympathetic hypo-innervation in familial dysautonomia. Clin Auton Res 18(3):115\u2013119","journal-title":"Clin Auton Res"},{"issue":"4","key":"941_CR30","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1590\/1678-4685-gmb-2015-0335","volume":"39","author":"P Dietrich","year":"2016","unstructured":"Dietrich P, Dragatsis I (2016) Familial dysautonomia: mechanisms and models. Genet Mol Biol 39(4):497\u2013514","journal-title":"Genet Mol Biol"},{"issue":"1","key":"941_CR31","doi-asserted-by":"crossref","first-page":"7032","DOI":"10.1038\/s41467-022-34811-7","volume":"13","author":"HF Wu","year":"2022","unstructured":"Wu HF, Yu W, Saito-Diaz K, Huang CW, Carey J, Lefcort F et\u00a0al (2022) Norepinephrine transporter defects lead to sympathetic hyperactivity in familial dysautonomia models. Nat Commun 13(1):7032","journal-title":"Nat Commun"},{"issue":"18","key":"941_CR32","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1517\/14656566.2014.970530","volume":"15","author":"JA Palma","year":"2014","unstructured":"Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H (2014) Current treatments in familial dysautonomia. Expert Opin Pharmacother 15(18):2653\u20132671","journal-title":"Expert Opin Pharmacother"},{"issue":"7","key":"941_CR33","doi-asserted-by":"crossref","first-page":"2414","DOI":"10.1177\/0271678X16667524","volume":"37","author":"C Fuente Mora","year":"2017","unstructured":"Fuente Mora C, Palma JA, Kaufmann H, Norcliffe-Kaufmann L (2017) Cerebral autoregulation and symptoms of orthostatic hypotension in familial dysautonomia. J Cereb Blood Flow Metab 37(7):2414\u20132422","journal-title":"J Cereb Blood Flow Metab"},{"issue":"2","key":"941_CR34","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10286-017-0454-2","volume":"28","author":"L Norcliffe-Kaufmann","year":"2018","unstructured":"Norcliffe-Kaufmann L, Galindo-Mendez B, Garcia-Guarniz AL, Villarreal-Vitorica E, Novak V (2018) Transcranial doppler in autonomic testing: standards and clinical applications. Clin Auton Res 28(2):187\u2013202","journal-title":"Clin Auton Res"},{"issue":"8","key":"941_CR35","doi-asserted-by":"crossref","first-page":"zsx083","DOI":"10.1093\/sleep\/zsx083","volume":"40","author":"JA Palma","year":"2017","unstructured":"Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H (2017) Sudden unexpected death during sleep in familial dysautonomia: a case-control study. Sleep. 40(8):zsx083","journal-title":"Sleep."},{"key":"941_CR36","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.autneu.2019.02.003","volume":"218","author":"JA Palma","year":"2019","unstructured":"Palma JA, Gileles-Hillel A, Norcliffe-Kaufmann L, Kaufmann H (2019) Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: implications for sudden death during sleep. Auton Neurosci 218:10\u201315","journal-title":"Auton Neurosci"},{"issue":"9","key":"941_CR37","first-page":"516","volume":"296","author":"L Pinsky","year":"1977","unstructured":"Pinsky L (1977) Ventilatory disturbance in Riley-Day syndrome. N Engl J Med 296(9):516","journal-title":"N Engl J Med"},{"key":"941_CR38","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.rmed.2018.06.017","volume":"141","author":"M Kazachkov","year":"2018","unstructured":"Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP et\u00a0al (2018) Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Respir Med 141:37\u201346","journal-title":"Respir Med"},{"issue":"6","key":"941_CR39","doi-asserted-by":"crossref","first-page":"2788","DOI":"10.1152\/jn.00528.2018","volume":"120","author":"LJ Smith","year":"2018","unstructured":"Smith LJ, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Macefield VG (2018) Impaired sensorimotor control of the hand in congenital absence of functional muscle spindles. J Neurophysiol 120(6):2788\u20132795","journal-title":"J Neurophysiol"},{"issue":"2","key":"941_CR40","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1152\/jn.00148.2015","volume":"115","author":"VG Macefield","year":"2016","unstructured":"Macefield VG, Norcliffe-Kaufmann L, Goulding N, Palma JA, Fuente Mora C, Kaufmann H (2016) Increasing cutaneous afferent feedback improves proprioceptive accuracy at the knee in patients with sensory ataxia. J Neurophysiol 115(2):711\u2013716","journal-title":"J Neurophysiol"},{"key":"941_CR41","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.ajoc.2018.02.010","volume":"10","author":"A Cressey","year":"2018","unstructured":"Cressey A, Jacobs DS, Remington C, Carrasquillo KG (2018) Improvement of chronic corneal opacity in ocular surface disease with prosthetic replacement of the ocular surface ecosystem (PROSE) treatment. Am J Ophthalmol Case Rep 10:108\u2013113","journal-title":"Am J Ophthalmol Case Rep"},{"issue":"10","key":"941_CR42","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1046\/j.1365-2362.2003.01242.x","volume":"33","author":"H Marthol","year":"2003","unstructured":"Marthol H, Tutaj M, Brys M, Brown CM, Hecht MJ, Berlin D et\u00a0al (2003) Clonidine improves postprandial baroreflex control in familial dysautonomia. Eur J Clin Invest 33(10):912\u2013918","journal-title":"Eur J Clin Invest"},{"issue":"1","key":"941_CR43","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s10286-016-0383-5","volume":"27","author":"RC Dillon","year":"2017","unstructured":"Dillon RC, Palma JA, Spalink CL, Altshuler D, Norcliffe-Kaufmann L, Fridman D et\u00a0al (2017) Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. Clin Auton Res 27(1):7\u201315","journal-title":"Clin Auton Res"},{"issue":"4","key":"941_CR44","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s10286-017-0442-6","volume":"27","author":"CL Spalink","year":"2017","unstructured":"Spalink CL, Barnes E, Palma JA, Norcliffe-Kaufmann L, Kaufmann H (2017) Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. Clin Auton Res 27(4):279\u2013282","journal-title":"Clin Auton Res"},{"issue":"2","key":"941_CR45","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1542\/peds.2008-3318","volume":"124","author":"FB Axelrod","year":"2009","unstructured":"Axelrod FB, Berlin D (2009) Pregabalin: a new approach to treatment of the dysautonomic crisis. Pediatrics 124(2):743\u2013746","journal-title":"Pediatrics"},{"issue":"5","key":"941_CR46","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/j.ijporl.2014.02.011","volume":"78","author":"SJ Daniel","year":"2014","unstructured":"Daniel SJ, Cardona I (2014) Onabotulinum toxin A for the treatment of sialorrhea in familial dysautonomia. Int J Pediatr Otorhinolaryngol 78(5):879\u2013881","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"4","key":"941_CR47","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1016\/j.ajhg.2019.02.009","volume":"104","author":"E Morini","year":"2019","unstructured":"Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA et\u00a0al (2019) ELP1 splicing correction reverses proprioceptive sensory loss in familial dysautonomia. Am J Hum Genet 104(4):638\u2013650","journal-title":"Am J Hum Genet"},{"issue":"1","key":"941_CR48","doi-asserted-by":"crossref","first-page":"4507","DOI":"10.1038\/s41467-021-24705-5","volume":"12","author":"M Ajiro","year":"2021","unstructured":"Ajiro M, Awaya T, Kim YJ, Iida K, Denawa M, Tanaka N et\u00a0al (2021) Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia. Nat Commun 12(1):4507","journal-title":"Nat Commun"},{"issue":"10","key":"941_CR49","doi-asserted-by":"crossref","first-page":"4833","DOI":"10.1093\/nar\/gky249","volume":"46","author":"R Sinha","year":"2018","unstructured":"Sinha R, Kim YJ, Nomakuchi T, Sahashi K, Hua Y, Rigo F et\u00a0al (2018) Antisense oligonucleotides correct the familial dysautonomia splicing defect in IKBKAP transgenic mice. Nucleic Acids Res 46(10):4833\u20134844","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"941_CR50","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1016\/j.ajhg.2022.07.004","volume":"109","author":"G Romano","year":"2022","unstructured":"Romano G, Riccardi F, Bussani E, Vodret S, Licastro D, Ragone I et\u00a0al (2022) Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA. Am J Hum Genet 109(8):1534\u20131548","journal-title":"Am J Hum Genet"}],"container-title":["Clinical Autonomic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10286-023-00941-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10286-023-00941-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10286-023-00941-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T16:08:07Z","timestamp":1700150887000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10286-023-00941-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,19]]},"references-count":50,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["941"],"URL":"https:\/\/doi.org\/10.1007\/s10286-023-00941-1","relation":{},"ISSN":["0959-9851","1619-1560"],"issn-type":[{"value":"0959-9851","type":"print"},{"value":"1619-1560","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,19]]},"assertion":[{"value":"14 January 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 March 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 May 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}