Dysautonomia Foundation, Inc

Recent Publications by Dr. Felicia Axelrod

Journal Publications

2004

  • Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims M, Quinero F, Axelrod FB, Gusella JF.  Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum. Mol. Genet. (2004); 0: 461-0.

2003

  • Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan Ch, Gusella JF, Axelrod FB, Slaugenhaupt SA. (2003) Identification of the first non-Jewish mutation in Familial Dysautonomia. Am J of Med Genet 118A:305-308.
     

  • Cuajungco MP, Leyne M, Gill SP, Mull J, Lu W, Zagzag  D, Axelrod FB, Gusella JF, Maayan Ch, Slaugenhaupt SA. (2003)  Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with Familial Dysautonomia.Am J Hum Genet 72:749-758.
     

  • Brown CM, Stemper B, Welsch G, Brys M, Axelrod FB, Hilz MJ. (2003) Orthostatic challenge reveals impaired vascular resistance control but normal venous pooling and capillary filtration in Familial Dysautonomia. Clinical Science 104:163-169.
     

  • Stemper B, Axelrod F, Marthol H, Brown C, Brys M, Welsch G, Hilz MJ. (2003) Terminal Vessel hyperperfusion despite organ hypoperfusion in familial dysautonomia, Clin Sci (in press).
     

  • Bickel A, Axelrod FB, Marthol H, Schmelz M, Hilz MJ. (2003)  Sudomotor function in Familial Dysautonomia, J Neurol Neurosurg Psychiatry 75:275-279.
     

  • Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA. (2003) Hereditary dysautonomias: current knowledge and collaborations for the future. Clin Auton Res;13(3):180-95. 
     

  • Saini J, Axelrod FB, Maayan C, Stringer J, Smilen SW. Urinary incontinence in familial dysautonomia. Int Urogynecol J (2003) 14:209-213.
     

  • Kamboj M, Axelrod FB, David R, Geffner ME, Novogroder M,Oberfield SE, Turco JH, Maayan Ch, Kohn B. Growth hormone treatment in children with familial dysautonomia. J Pediatrics (2003) 144: 63-67. 

2002

  • Hilz MJ, Axelrod FB, Haertl U, Brown CM, Stemper B.  (2002) Transcranial doppler sonography during head up tilt suggests preserved central sympathetic activation in familial dysautonomia. Journal of Neurol  Neurosurg Psychiatry;72:657-660.
     

  • Dutsch M, Hilz MJ, Rauhut U, Solomon J, Neundorfer B, and Axelrod FB (2002) Sympathetic pupillary dysfunction in familial dysautonomia. Journal of Neurol Sci 195:77-83.
     

  • Bickel A, Axelrod FB, Schmetz M, Marthal H, Hilz MJ. (2002) Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry 73:299-302.
     

  • Axelrod FB (2002) Hereditary Sensory and Autonomic Neuropathies: Familial Dysautonomia and other HSANs. Clin Auton Res 12 Supplement 1, 2-14.
     

  • Axelrod FB (2002) Genetic disorders a models to understand autonomic dysfunction. Clin Auton Res 12 Supplement 1, 1.
     

  • Zaenglein AL, Chang MW, Meehan SA, Axelrod FB, Orlow SJ (2002) Extensive Riga-Fede disease of the lip and tongue. Journal Amer Acad Derm 47,445-7.
     

  • Axelrod FB, Goldberg JD, Ye XY, Maayan C.(2002) Survival in familial dysautonomia: Impact of early intervention. J Pediatr;141:518-23.
     

  • Hilz MJ, Axelrod FB, Steingrueber M, Stemper.(2002) Valsalva maneuver suggests increased rigidity of cerebral resistance vessels in familial dysautonomia. Clin Autonom Res.12:385-92.
     

  • Hilz MJ, Axelrod FB, Braeske K, Stemper. (2002) Cold pressor test demonstrates residual sympathetic cardiovascular activation in familial dysautonomia. J Neurol Sci 196: 81-9.
     

  • Bernardi L, Hilz M, Stemper B, Passino C, Welsch G, Axelrod FB. (2002) Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med. 167:141-149.

2001

  • Laplaza J.,  Turajane, T.,  Axelrod, F.B. and Burke, S.W.  (2001) Non-spinal orthopaedic problems in familial dysautonomia. J of Pediatric Orthopedics 21:229-232
     

  • Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CE, Chadwick B, Idelson M, Reznik L, Robbins CM, Makalowskia I, Brownsein MJ, Krappmann D, Scheidereit C, Maayan CH, Axelrod FB , Gusella J. (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Human Genetics 68. 598-604.

2000

  • Chadwick BP, Leyne M,Gill SP, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. (2000) Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mammalian Genome 11.
     

  • Axelrod, FB,   Zupanc, M, Hilz, MJ,  Kramer, EL. (2000) Ictal SPECT during autonomic crisis in familial dysautonomia. Neurology 55: 122-125.
     

  • Hilz, M.J., and Axelrod, F.B.  (2000) Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. Clin Aut Res 10: 177-183.
     

  • Hayek, S., Laplaza J.,   Axelrod, F.B. and Burke, S.W.  (2000) Spinal deformity in familial dysautonomia: Prevalence and results of brace management. J of Bone and Joint Surgery (American), 82: 1558-1562.
     

  • Maayan Ch, Sela, S, Axelrod FB, Kidron, D, Hochner-Celnikier D. (2000) Gynecological aspects of female familial dysautonomia. Isr Med Assoc Journal. 2:679-683.

Textbook and Reference Chapters

  • Axelrod FB and Maayan Ch: (1999) Familial dysautonomia. In: Gellis and Kagen's Current Pediatric Therapy 16th Ed,  FD Burg, JR Ingelfinger, ER Wald, and RA Polin eds. WB Saunders, Philadelphia. pp  466-69.
     

  • Axelrod FB: (1999) Familial dysautonomia. In: Autonomic Failure 4th Ed,  CJ Mathias  and R Bannister, eds. Oxford University Press, New York. pp 402-418.
     

  • Axelrod FB: (2000) Familial dysautonomia. In: Neurobase, eds. Oxford Arbor Publishing Corp, San Diego.
     

  • Axelrod FB and Hilz MJ: (2000 ) Familial dysautonomia. In: Handbook of Clinical Neurolgy, vol 75, The Autonomic Nervous System, Part II. Dysfunctions,  O Appenzeller, ed. Elsevier Science BV, London. pp  143-160.

 

 

                  copyright (c) 2004 Dysautonomia Foundation Inc                                                      last modified 2/13/04