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Volumn , Issue , 2009, Pages 737-740

Dysautonomia: Familial

Author keywords

Autonomic nervous system; Central and peripheral nervous systems; Familial dysautonomia; Hereditary sensory and autonomic neuropathy; IKAP; IKBKAP; MRNA splicing; Riley Day syndrome; Tissue specific expression; Transcriptional elongation

Indexed keywords


EID: 79954618812     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-008045046-9.00668-9     Document Type: Chapter
Times cited : (1)

References (14)
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    • EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
    • Anderson S.L., Qiu J., Rubin B.Y. EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. Biochemical and Biophysical Research Communications 2003, 310:627-633.
    • (2003) Biochemical and Biophysical Research Communications , vol.310 , pp. 627-633
    • Anderson, S.L.1    Qiu, J.2    Rubin, B.Y.3
  • 4
    • 0036244858 scopus 로고    scopus 로고
    • Hereditary sensory and autonomic neuropathies: Familial dysautonomia and other HSANs
    • Axelrod F.B. Hereditary sensory and autonomic neuropathies: Familial dysautonomia and other HSANs. Clinical Autonomic Research 2002, 12:2-14.
    • (2002) Clinical Autonomic Research , vol.12 , pp. 2-14
    • Axelrod, F.B.1
  • 5
    • 36749089684 scopus 로고    scopus 로고
    • Autonomic and sensory disorders
    • Churchill Livingstone, Philadelphia, D.L. Rimoin, J.M. Connor, R.E. Pyeritz, B.R. Korf (Eds.)
    • Axelrod F.B. Autonomic and sensory disorders. Principles and Practice of Medical Genetics 2007, 2802-2816. Churchill Livingstone, Philadelphia. 5th edn. D.L. Rimoin, J.M. Connor, R.E. Pyeritz, B.R. Korf (Eds.).
    • (2007) Principles and Practice of Medical Genetics , pp. 2802-2816
    • Axelrod, F.B.1
  • 8
    • 0034641274 scopus 로고    scopus 로고
    • Ictal SPECT during autonomic crisis in familial dysautonomia
    • Axelrod F.B., Zupanc M., Hilz M.J., Kramer E.L. Ictal SPECT during autonomic crisis in familial dysautonomia. Neurology 2000, 55:122-125.
    • (2000) Neurology , vol.55 , pp. 122-125
    • Axelrod, F.B.1    Zupanc, M.2    Hilz, M.J.3    Kramer, E.L.4
  • 10
    • 33745034833 scopus 로고    scopus 로고
    • Transcription impairment and cell migration defects in elongator-depleted cells: Implication for familial dysautonomia
    • Close P., Hawkes N., Cornez I., et al. Transcription impairment and cell migration defects in elongator-depleted cells: Implication for familial dysautonomia. Molecular Cell 2006, 22:521-531.
    • (2006) Molecular Cell , vol.22 , pp. 521-531
    • Close, P.1    Hawkes, N.2    Cornez, I.3
  • 11
    • 33846574156 scopus 로고    scopus 로고
    • Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
    • Hims M.M., Ibrahim E.C., Leyne M., et al. Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. Journal of Molecular Medicine 2007, 85:149-161.
    • (2007) Journal of Molecular Medicine , vol.85 , pp. 149-161
    • Hims, M.M.1    Ibrahim, E.C.2    Leyne, M.3
  • 13
    • 0035089807 scopus 로고    scopus 로고
    • Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    • Slaugenhaupt S.A., Blumenfeld A., Gill S.P., et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. American Journal of Human Genetics 2001, 68:598-605.
    • (2001) American Journal of Human Genetics , vol.68 , pp. 598-605
    • Slaugenhaupt, S.A.1    Blumenfeld, A.2    Gill, S.P.3
  • 14
    • 1242353105 scopus 로고    scopus 로고
    • Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
    • Slaugenhaupt S.A., Mull J., Leyne M., et al. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Human Molecular Genetics 2004, 13:429-436.
    • (2004) Human Molecular Genetics , vol.13 , pp. 429-436
    • Slaugenhaupt, S.A.1    Mull, J.2    Leyne, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.