Home » Research » Faculty Publications » Familial Dysautonomia

Felicia Axelrod, M.D.

Publications

Publications

1. Axelrod FB; Hilz MJ; Berlin D; Yau PL; Javier D; Sweat V; Bruehl H; Convit A. "Neuroimaging supports central pathology in familial dysautonomia". Journal of neurology. 2009; (#J0180515)
2. Axelrod, Felicia B; Berlin, Dena. "Pregabalin: a new approach to treatment of the dysautonomic crisis". Pediatrics. 2009; 124: 743 (#J0174858)
3. Feldman, David S; Ruchelsman, David E; Spencer, Daniel B; Straight, Joseph J; Schweitzer, Mark E; Axelrod, Felicia B. "Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV". Journal of pediatric orthopedics. 2009; 29: 91 (#J0159115)
4. Gold-von Simson, Gabrielle; Goldberg, Judith D; Rolnitzky, Linda M; Mull, James; Leyne, Maire; Voustianiouk, Andrei; Slaugenhaupt, Susan A; Axelrod, Felicia B. "Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing". Pediatric research. 2009; 65: 341 (#J0179819)
5. Tellez, Maria J; Axelrod, Felicia; Kaufmann, Horacio. "The R3 component of the electrically elicited blink reflex is present in patients with congenital insensitivity to pain". Pain. 2009; 141: 178 (#J0161252)
6. Goldstein, DS; Eldadah, B; Sharabi, Y; Axelrod, FB. "Cardiac sympathetic hypo-innervation in familial dysautonomia". Clinical autonomic research. 2008; 18: 115 (#J0150291)
7. Goldstein, DS; Holmes, C; Axelrod, FB. "Plasma catechols in familial dysautonomia: A long-term follow-up study". Neurochemical research. 2008; 33: 1889 (#J0149391)
8. Gold-von Simson, Gabrielle; Leyne, Maire; Mull, James; Rolnitzky, Linda M; Goldberg, Judith D; Berlin, Dena; Axelrod, Felicia B; Slaugenhaupt, Susan A. "IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia". Pediatric research. 2008; 63: 186 (#J0137547)
9. Solaimanzadeh, I; Schlegel, T T; Feiveson, A H; Greco, E C; DePalma, J L; Starc, V; Marthol, H; Tutaj, M; Buechner, S; Axelrod, F B; Hilz, M J. "Advanced electrocardiographic predictors of mortality in familial dysautonomia". Autonomic neuroscience. 2008; 144: 76 (#J0180518)
10. Axelrod, FB; Simson, GGV. "Hereditary sensory and autonomic neuropathies: types II, III, and IV". Orphanet journal of rare diseases. 2007; 2: 315 (#J0150739)
11. Axelrod, Felicia B; Gold-von Simson, Gabrielle. "Hereditary sensory and autonomic neuropathies: types II, III, and IV". Orphanet journal of rare diseases. 2007; 2: 39 (#J0132517)
12. Nadler, Evan P; Leung, Sam; Axelrod, Felicia B; Ginsburg, Howard B. "A reinforced suture line prevents recurrence after fundoplication in patients with familial dysautonomia". Journal of pediatric surgery. 2007; 42: 653 (#J0126825)
13. Axelrod FB; Chelimsky GG; Weese-Mayer DE. "Pediatric autonomic disorders". Pediatrics. 2006; 118: 309 (#J0118364)
14. Axelrod, Felicia B. "A world without pain or tears". Clinical autonomic research. 2006; 16: 90 (#J0125315)
15. Elkayam, Lior; Matalon, Albert; Tseng, Chi-Hong; Axelrod, Felicia. "Prevalence and severity of renal disease in familial dysautonomia". American journal of kidney diseases. 2006; 48: 780 (#J0125313)
16. Gold-von Simson G; Kohn B; Axelrod FB. "Cushing syndrome from topical foam steroid use in an adolescent male". Clinical pediatrics. 2006; 45: 97 (#J0115817)
17. Gold-von Simson, Gabrielle; Axelrod, Felicia B. "Familial dysautonomia: update and recent advances". Current problems in pediatric & adolescent health care. 2006; 36: 218 (#J0121243)
18. Ngai, Jennie; Kreynin, Ilya; Kim, Jung T; Axelrod, Felicia B. "Anesthesia management of familial dysautonomia". Paediatric anesthesia. 2006; 16: 611 (#J0121054)
19. Sands, Stephen A; Giarraffa, Philip; Jacobson, Colleen M; Axelrod, Felicia B. "Familial dysautonomia's impact on quality of life in childhood, adolescence, and adulthood". Acta paediatrica. 2006; 95: 457 (#J0125314)
20. Tutaj, Marcin; Marthol, Harald; Berlin, Dena; Brown, Clive M; Axelrod, Felicia B; Hilz, Max J. "Effect of physical countermaneuvers on orthostatic hypotension in familial dysautonomia". Journal of neurology. 2006; 253: 65 (#J0119984)
21. Axelrod FB; Goldberg JD; Rolnitzky L; Mull J; Mann SP; Gold von Simson G; Berlin D; Slaugenhaupt SA. "Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression". Clinical autonomic research. 2005; 15: 284 (#J0106826)
22. Giarraffa P; Berger KI; Chaikin AA; Axelrod FB; Davey C; Becker B. "Assessing efficacy of high-frequency chest wall oscillation in patients with familial dysautonomia". Chest. 2005; 128: 3377 (#J0110018)
23. Axelrod FB. "Familial dysautonomia". Muscle & nerve. 2004; 29: 352 (#J0067147)
24. Bickel, A; Axelrod, F B; Marthol, H; Schmelz, M; Hilz, M J. "Sudomotor function in familial dysautonomia". Journal of neurology neurosurgery & psychiatry. 2004; 75: 275 (#J0119993)
25. Kamboj MK; Axelrod FB; David R; Geffner ME; Novogroder M; Oberfield SE; Turco JH; Maayan C; Kohn B. "Growth hormone treatment in children with familial dysautonomia". Journal of pediatrics. 2004; 144: 63 (#J0067189)
26. Slaugenhaupt, Susan A; Mull, James; Leyne, Maire; Cuajungco, Math P; Gill, Sandra P; Hims, Matthew M; Quintero, Fabiola; Axelrod, Felicia B; Gusella, James F. "Rescue of a human mRNA splicing defect by the plant cytokinin kinetin". Human molecular genetics. 2004; 13: 429 (#J0125316)
27. Stemper, B; Bernardi, L; Axelrod, F B; Welsch, G; Passino, C; Hilz, M J. "Sympathetic and parasympathetic baroreflex dysfunction in familial dysautonomia". Neurology. 2004; 63: 1427 (#J0119989)
28. Axelrod FB; Hilz MJ. "Inherited autonomic neuropathies". Seminars in neurology. 2003; 23: 381 (#J0071471)
29. Bernardi L; Hilz M; Stemper B; Passino C; Welsch G; Axelrod FB. "Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia". American journal of respiratory & critical care medicine. 2003; 167: 141 (#J0050530)
30. Cuajungco MP; Leyne M; Mull J; Gill SP; Lu W; Zagzag D; Axelrod FB; Maayan C; Gusella JF; Slaugenhaupt SA. "Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia". American journal of human genetics. 2003; 72: 749 (#J0047914)
31. Axelrod, Felicia B. "Genetic disorders as models to understand autonomic dysfunction". Clinical autonomic research. 2002; 12 Suppl 1: I1 (#J0125317)
32. Axelrod FB. "Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs". Clinical autonomic research. 2002; 12 Suppl 1: I2 (#J0053915)
33. Axelrod FB; Goldberg JD; Ye XY; Maayan C. "Survival in familial dysautonomia: Impact of early intervention". Journal of pediatrics. 2002; 141: 518 (#J0053597)
34. Bickel A; Axelrod FB; Schmelz M; Marthol H; Hilz MJ. "Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia". Journal of neurology neurosurgery & psychiatry. 2002; 73: 299 (#J0050466)
35. Dutsch M; Hilz MJ; Rauhut U; Solomon J; Neundorfer B; Axelrod FB. "Sympathetic and parasympathetic pupillary dysfunction in familial dysautonomia". Journal of the neurological sciences. 2002; 195: 77 (#J0027868)
36. Hilz MJ; Axelrod FB; Braeske K; Stemper B. "Cold pressor test demonstrates residual sympathetic cardiovascular activation in familial dysautonomia". Journal of the neurological sciences. 2002; 196: 81 (#J0050473)
37. Hilz MJ; Axelrod FB; Haertl U; Brown CM; Stemper B. "Transcranial Doppler sonography during head up tilt suggests preserved central sympathetic activation in familial dysautonomia". Journal of neurology neurosurgery & psychiatry. 2002; 72: 657 (#J0050472)
38. Hilz MJ; Axelrod FB; Steingrueber M; Stemper B. "Valsalva maneuver suggests increased rigidity of cerebral resistance vessels in familial dysautonomia". Clinical autonomic research. 2002; 12: 385 (#J0050463)
39. Hilz, MJ; Stemper, B; Brys, M; Marthol, H; Franta, R; Axelrod, FB. "Stability of autonomic cardiovascular modulation and baroreflex function during Sildenafil use and physical challenge". Neurology. 2002; 58: A348 (#J0180475)
40. Zaenglein AL; Chang MW; Meehan SA; Axelrod FB; Orlow SJ. "Extensive Riga-Fede disease of the lip and tongue". Journal of the American Academy of Dermatology. 2002; 47: 445 (#J0047965)
41. Lipson SM; Shepp DH; Match ME; Axelrod FB; Whitbread JA. "Cytomegalovirus infectivity in whole blood following leukocyte reduction by filtration". American journal of clinical pathology. 2001; 116: 52 (#J0023077)
42. Stemper, B; Hilz, MJ; Bernardi, L; Welsch, G; Passino, C; Axelrod, FB. "Impaired cardiovascular responses during hypoxic chemoreceptor stimulation in familial dysautonomia". Neurology. 2001; 56: A426 (#J0180480)
43. Axelrod FB; Zupanc M; Hilz MJ; Kramer EL. "Ictal SPECT during autonomic crisis in familial dysautonomia". Neurology. 2000; 55: 122 (#J0008819)
44. Hilz MJ; Stemper B; Axelrod FB. "Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV". Neurology. 1999; 52: 1652 (#J0000242)
45. Hilz, MJ; Stemper, B; Sauer, P; Haertl, U; Singer, W; Axelrod, FB. "Cold face test demonstrates parasympathetic cardiac dysfunction in familial dysautonomia". American journal of physiology. Regulatory, integrative, & comparative physiology. 1999; 276: R1833 (#J0180493)
46. Oddoux, C; Wang, J; Clayton, CM; Hilz, M; Cilio, R; Bertini, E; Mayaan, C; Blumenfeld, A; Axelrod, F; Ostrer, H. "Genetic heterogeneity in hereditary and autonomic sensory neuropathy type 4 (HSAN4) [Abstract]". American journal of human genetics. 1999; 65: A482 (#J0095518)
47. Oddoux C; Guillen-Navarro E; Ditivoli C; Dicave E; Cilio MR; Clayton CM; Nelson H; Sarafoglou K; McCain N; Peretz H; Seligsohn U; Luzzatto L; Nafa K; Nardi M; Karpatkin M; Aksentijevich I; Kastner D; Axelrod F; Ostrer H . "Mendelian diseases among Roman Jews: implications for the origins of disease alleles". Journal of clinical endocrinology & metabolism. 1999; 84: 4405 (#J0004234)
48. Axelrod FB. "Familial dysautonomia: a 47-year perspective. How technology confirms clinical acumen". Journal of pediatrics. 1998; 132: S2 (#J0002647)
49. Axelrod FB; Goldstein DS; Holmes C; Kopin IJ. "Genotype and phenotype in familial dysautonomia". Advances in pharmacology (New York). 1998; 42: 925 (#J0002648)
50. Glickstein, JS; Axelrod, F; Friedman, D. "Electrocardiographic repolarization abnormalities in familial dysautonomia: An indicator of autonomic dysfunction [Abstract]". Pediatrics. 1998; 102: 687 (#J0095354)
51. Hilz MJ; Kolodny EH; Neuner I; Stemper B; Axelrod FB. "Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk". Journal of neurology neurosurgery & psychiatry. 1998; 65: 338 (#J0002847)
52. Hilz MJ; Axelrod FB; Hermann K; Haertl U; Duetsch M; Neundorfer B. "Normative values of vibratory perception in 530 children, juveniles and adults aged 3-79 years". Journal of the neurological sciences. 1998; 159: 219 (#J0002846)
53. Weiser M; Hilz MJ; Bronfin L; Axelrod FB. "Assessing microcirculation in familial dysautonomia by laser Doppler flowmeter". Clinical autonomic research. 1998; 8: 13 (#J0003250)
54. Axelrod FB; Putman D; Berlin D; Rutkowski M. "Electrocardiographic measures and heart rate variability in patients with familial dysautonomia". Cardiology. 1997; 88: 133 (#J0002000)
55. Dashman, T; Samuels, S; Leshinsky-Silver, E; Kolodny, E; Axelrod, F. "Tetrahydrobiopterin (BH4): Cofactor for dopamine beta hydroxylase (D beta H) [Abstract]". FASEB journal. 1997; 11: A1311 (#J0094390)
56. Oddoux, C; Guillen-Navarro, E; Clayton, CM; Nelson, H; Peretz, H; Seligsohn, U; Luzzatto, L; Nardi, M; Karpatkin, M; DiTivoli, C; DiCave, E; Axelrod, F; Ostrer, H. "Genetic evidence for a common origin among Roman Jews and Ashkenazi Jews [Abstract]". American journal of human genetics. 1997; 61: A207 (#J0094888)
57. Axelrod FB; Goldstein DS; Holmes C; Berlin D; Kopin IJ. "Pattern of plasma levels of catecholamines in familial dysautonomia". Clinical autonomic research. 1996; 6: 205 (#J0010281)
58. Chu ML; Berlin D; Axelrod FB. "Allgrove syndrome: documenting cholinergic dysfunction by autonomic tests". Journal of pediatrics. 1996; 129: 156 (#J0001789)
59. Hilz MJ; Glorius SE; Schweibold G; Neuner I; Stemper B; Axelrod FB. "Quantitative thermal perception testing in preschool children". Muscle & nerve. 1996; 19: 381 (#J0001821)
60. Zelnik N; Axelrod FB; Leshinsky E; Griebel ML; Kolodny EH. "Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction". Pediatric neurology. 1996; 14: 251 (#J0010399)
61. Axelrod FB; Krey L; Glickstein JS; Allison JW; Friedman D. "Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia". Journal of the autonomic nervous system. 1995; 55: 29 (#J0001441)
62. HILZ, MJ; STEMPER, B; BAER, R; KOLODNY, EH; AXELROD, FB. "SYMPATHETIC SKIN-RESPONSE DIFFERENTIATES HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES TYPE-IV FROM TYPE-III [Abstract]". Annals of neurology. 1995; 38: 335 (#J0131557)
63. Oddoux C; Reich E; Axelrod F; Blumenfeld A; Maayan C; Slaugenhaupt S; Gusella J; Ostrer H. "Prenatal diagnostic testing for familial dysautonomia using linked genetic markers". Prenatal diagnosis. 1995; 15: 817 (#J0001546)
64. SLAUGENHAUPT, SA; LIEBERT, CB; MULL, J; MACCORMACK, K; LEBEL, A; OLEARY, K; LUCENTE, D; MCCORMICK, MK; BUCKLER, AJ; MAAYAN, C; AXELROD, F; BLUMENFELD, A; GUSELLA, JF. "EVALUATION OF CANDIDATE GENES FOR FAMILIAL DYSAUTONOMIA [Abstract]". American journal of human genetics. 1995; 57: 1569 (#J0149035)
65. SLAUGENHAUPT, SA; BLUMENFELD, A; LIEBERT, CB; MULL, J; LUCENTE, DE; MONAHAN, M; BREAKEFIELD, XO; MAAYAN, C; PARADA, L; AXELROD, FB; GUSELLA, JF. "THE HUMAN GENE FOR NEUROTROPHIC TYROSINE KINASE RECEPTOR-TYPE-2 (NTRK2) IS LOCATED ON CHROMOSOME-9 BUT IS NOT THE FAMILIAL DYSAUTONOMIA GENE". Genomics. 1995; 25: 730 (#J0151697)
66. Axelrod FB; Krey L; Glickstein JS; Friedman D; Weider J; Metakis LJ; Porges VM; Mineo M; Notterman D. "Atrial natriuretic peptide response to postural change and medication in familial dysautonomia". Clinical autonomic research. 1994; 4: 311 (#J0001049)
67. Axelrod FB; Glickstein JS; Weider J; Gluck MC; Friedman D. "The effects of postural change and exercise on renal haemodynamics in familial dysautonomia". Clinical autonomic research. 1993; 3: 195 (#J0000619)
68. Glickstein JS; Schwartzman D; Friedman D; Rutkowski M; Axelrod FB. "Abnormalities of the corrected QT interval in familial dysautonomia: an indicator of autonomic dysfunction". Journal of pediatrics. 1993; 122: 925 (#J0011333)
69. Rutkowski M; Axelrod FB; Danilowicz D. "Transient third-degree atrioventricular block in a 4-year-old child with familial dysautonomia". Pediatric cardiology. 1992; 13: 184 (#J0011930)
70. Axelrod FB; Gouge TH; Ginsburg HB; Bangaru BS; Hazzi C. "Fundoplication and gastrostomy in familial dysautonomia". Journal of pediatrics. 1991; 118: 388 (#J0012855)
71. Axelrod FB; Donenfeld RF; Danziger F; Turndorf H. "Anesthesia in familial dysautonomia". Anesthesiology. 1988; 68: 631 (#J0008043)
72. SKLAR C A; AXELROD F B. "THE AUTONOMIC NERVOUS SYSTEM AND ADRENAL FUNCTION CORTISOL RESPONSE TO ACTH IN FAMILIAL DYSAUTONOMIA FD". Journal of pediatric endocrinology & metabolism. 1988; 3: 33 (#J0170835)
73. Axelrod FB; Maayan C; Hazzi C; Bangaru BS; Shannon DC. "Bradycardia associated with hiatal hernia and gastroesophageal reflux relieved by surgery". American journal of gastroenterology. 1987; 82: 159 (#J0117785)
74. Diamond GA; D'Amico RA; Axelrod FB. "Optic nerve dysfunction in familial dysautonomia". American journal of ophthalmology. 1987; 104: 645 (#J0026838)
75. Breakefield XO; Ozelius L; Bothwell MA; Chao MV; Axelrod F; Kramer PL; Kidd KK; Lanahan AA; Johnson DE; Ross AH; et al. "DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia". Molecular biology & medicine. 1986; 3: 483 (#J0013595)
76. Axelrod FB; Schneider KM; Ament ME; Kutin ND; Fonkalsrud EW. "Gastroesophageal fundoplication and gastrostomy in familial dysautonomia". Annals of surgery. 1982; 195: 253 (#J0024192)
77. Mitnick JS; Axelrod FB; Genieser NB; Becker M. "Aseptic necrosis in familial dysautonomia". Radiology. 1982; 142: 89 (#J0112942)
78. Korczyn, A D; Rubenstein, A E; Yahr, M D; Axelrod, F B. "The pupil in familial dysautonomia". Neurology. 1981; 31: 628 (#J0155944)
79. Pearson, J; Gallo, G; Gluck, M; Axelrod, F. "Renal disease in familial dysautonomia". Kidney international. 1980; 17: 102 (#J0135441)
80. RUBENSTEIN, AE; KORCZYN, AD; YAHR, MD; AXELROD, FB. "THE PUPIL IN FAMILIAL DYSAUTONOMIA". Neurology. 1980; 30: 428 (#J0176474)

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