Landmark Publications

• Riley CM, Day RL, Greeley D McL, Langford WS: (1949) Central autonomic dysfunction with defective lacrimation. Report of 5 cases. Pediatrics 3: 468-477
   

• Axelrod FB, Dancis J. (1973) Intrauterine growth retardation in familial dysautonomia. Am J Dis Child 125: 379-380
   

• Axelrod FB, Leistner H, Porges RF (1974) Breech presentation in familial dysautonomia. J Pediatr  84: 107-108
   

• Pearson J, Axelrod FB, Dancis J (1974) Current concepts of dysautonomia: neurological defects. Ann NY Acad Sci 228: 288-300
   

• Pearson J, Dancis J, Axelrod FB, Grover-Johnson N (1975) The sural nerve in familial dysautonomia. J Neuropathol Exp Neurol 34: 413-424
   

• Pearson J, Pytel B, Grover-Johnson N, Axelrod FB, Dancis J(1978) Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia. J Neurol Sci 35: 77-97.
   

• Porges RF, Axelrod FB, Richards M (1978) Pregnancy in familial dysautonomia. Amer J Obstet Gyn 132:485-488
   

• Welton W, Clayson D, Axelrod FB, Levine DB (1979) Intellectual development and familial dysautonomia. Pediatrics 63: 708-712
   

• Clayson D, Welton W, Axelrod FB (1980) Personality development and familial dysautonomia. Pediatrics 65: 269-274
   

• Pearson J, Gallo G, Gluck M, Axelrod FB (1980) Renal disease in familial dysautonomia. Kidney Int 17: 102-112
   

• Axelrod FB, Iyer K, Fish I, Pearson J, Sein ME, Spielholz N (1981) Progressive sensory loss in familial dysautonomia. Pediatrics 65: 517-522
   

• Axelrod FB, Abularrage JJ (1982) Familial dysautonomia. A prospective study of survival. J Pediatr 101: 234-236
   

• Axelrod FB, Schneider KM, Ament ME, Kutin ND, Fonkalsrud EW (1982) Gastroesophageal fundoplication and gastrostomy in familial dysautonomia. Ann Surg 195: 253-258
   

• Mitnick J, Axelrod FB, Genieser N, Becker M (1982) Aseptic necrosis in familial dysautonomia. Radiology 142: 89-91
   

• Axelrod FB, Pearson J (1984) Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child 138: 947-954
   

• Axelrod FB, Porges RF, Sein ME (1987) Neonatal recognition of familial dysautonomia. J Pediatr 110: 946-948
   

• Maayan CH, Kaplan E, Shachar Sh, Peleg O, Godfrey S, (1987): Incidence of familial dysautonomia in Israel 1977-1981. Clinical Genetics 32: 106-108
   

• Axelrod FB, Donnenfeld R, Danziger F, Turndorf H (1988) Anesthesia in familial dysautonomia. Anesthesiology 68: 631-635, 1988.
   

• Axelrod FB, Gouge TH, Ginsburg HB, Bangaru BS, Hazzi C (1991) Fundoplication and gastrostomy in familial dysautonomia. J Pediatr 118: 388-394
   

• Rutkowski M, Axelrod FB, Danilowicz D. (1992) Transient third-degree atrioventricular block in a 4-year-old-child with familial dysautonomia. Pediatr Cardiol ; 13: 184-186
   

• Axelrod FB, Glickstein JS, Weider J, Gluck MC, Friedman D:(1993) The effects of postural change and exercise on renal haemodynamics in familial dysautonomia. Clinical Autonomic Research 3, 195-200
   

• Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan Ch, Lieberg CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, Gusella JF (1993) Localization of the gene for familial dysautonomia on Chromosome 9 and definition of DNA markers for genetic diagnosis. Nature Genetics 4: 160-164
   

• Glickstein JS, Schwartzman D, Friedman D, Rutkowski M, Axelrod F (1993) Abnormalities of the corrected QT interval in familial dysautonomia: an indicator of autonomic dysfunction. Journal of Pediatrics 122: 925-928
   

• Axelrod FB, Krey L, Glickstein JS, Friedman D, Weider J, Metakis L, Porges VM, Mineo M, and Notterman D. (1994) Atrial natriuretic peptide and catecholamine response to orthostatic hypotension and treatments in familial dysautonomia. Clin Auton Res 4, 311-318
   

• Rubery PT, Spielman JH, Hester P, Axelrod F, Burke SW, Levine DB. (1995) Scoliosis in familial dysautonomia. J of Bone and Joint Surgery 77, 1362-1369
   

• Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H. (1995) Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenatal Diagnosis 15: 817-826
   

• Axelrod, FB., Krey, L., Glickstein, JS, Weider-Allison, J, Friedman, D. (1995) Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia. J Auton Nerv. System 55: 29-35
   

• Axelrod FB, Goldstein DS, Holmes C, Berlin D, Kopin IJ. (1996) Pattern of plasma levels of catecholamines in familial dysautonomia. Clin Auton Res 6: 205-209.
   

• Axelrod FB, Putman D, Berlin D, Rutkowski M. (1997) Electrocardiographic measures and heart rate variability in patients with familial dysautonomia. Cardiology 88: 133-140.
   

• Hilz MJ, Axelrod FB, Sauer P, Hagler A, Russo H, Neundorfer B. (1997) Cold face stimulation demonstrates parasympathetic dysfunction in familial dysautonomia. Journal of the Autonomic Nervous System 65 :111.
   

• Weiser M. , Hilz MJ, Bronfin L, Axelrod FB (1998) Assessing microcirculation in familial dysautonomia by laser Doppler flowmeter. Clinical Autonomic Research 8: 13-23.
   

• Axelrod FB (1998) Familial dysautonomia: A 47 year perspective. How technology confirms clinical acumen. Journal of Pediatrics132:S2-S5.
   

• Hilz MJ, Kolodny EH, Neuner I, Stemper B, and Axelrod FB (1998) Highly abnormal thermotest in familial dysautonomia suggests increased cardiac autonomic risk. Journal of Neurology, Neurosurgery, and Psychiatry.65:338-343
   

• Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan Ch, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Medillo M, Schiripo T, Mishori E, Breakefield X. Axelrod FB, Gusella JF. (1999) Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet 64:1110-1118.