familial dysautonomia

March 10, 2020 – 10:02 am
What is Familial Dysautonomia

Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet. 2001 Mar;68(3):753-8. Epub 2001 Jan 22.

Axelrod FB, Hilz MJ. Inherited autonomic neuropathies. Semin Neurol. 2003 Dec;23(4):381-90. Review.

Axelrod FB. Familial dysautonomia. Muscle Nerve. 2004 Mar;29(3):352-63. Review.

Axelrod FB. Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. Clin Auton Res. 2002 May;12 Suppl 1:I2-14. Review.

Carroll MS, Kenny AS, Patwari PP, Ramirez JM, Weese-Mayer DE. Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia. Pediatr Pulmonol. 2012 Jul;47(7):682-91. doi: 10.1002/ppul.21600. Epub 2011 Dec 13.

Elkayam L, Matalon A, Tseng CH, Axelrod F. Prevalence and severity of renal disease in familial dysautonomia. Am J Kidney Dis. 2006 Nov;48(5):780-6.

Gold-von Simson G, Axelrod FB. Familial dysautonomia: update and recent advances. Curr Probl Pediatr Adolesc Health Care. 2006 Jul;36(6):218-37. Review.

Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H. Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens. 2013 Jan;27(1):51-5. doi: 10.1038/jhh.2011.107. Epub 2011 Dec 1.

Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar;68(3):598-605. Epub 2001 Jan 22.

Source: ghr.nlm.nih.gov

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