-
4
-
-
0036244858
-
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
-
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
-
6
-
-
0036799517
-
Survival in familial dysautonomia: Impact of early intervention
-
Axelrod F.B., Goldberg J.D., Ye X.Y., Maayan C. Survival in familial dysautonomia: Impact of early intervention. Journal of Pediatrics 2002, 141:518-523.
-
(2002)
Journal of Pediatrics
, vol.141
, pp. 518-523
-
-
Axelrod, F.B.1
Goldberg, J.D.2
Ye, X.Y.3
Maayan, C.4
-
7
-
-
0029907490
-
Pattern of plasma levels of catecholamines in familial dysautonomia
-
Axelrod F.B., Goldstein D.S., Holmes C., Berlin D., Kopin I.J. Pattern of plasma levels of catecholamines in familial dysautonomia. Clinical Autonomic Research 1996, 6:205-209.
-
(1996)
Clinical Autonomic Research
, vol.6
, pp. 205-209
-
-
Axelrod, F.B.1
Goldstein, D.S.2
Holmes, C.3
Berlin, D.4
Kopin, I.J.5
-
8
-
-
0034641274
-
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
-
9
-
-
0037438722
-
Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia
-
Bernardi L., Hilz M., Stemper B., Passino C., Welsch G., Axelrod F.B. Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. American Journal of Respiratory and Critical Care Medicine 2002, 167:141-149.
-
(2002)
American Journal of Respiratory and Critical Care Medicine
, vol.167
, pp. 141-149
-
-
Bernardi, L.1
Hilz, M.2
Stemper, B.3
Passino, C.4
Welsch, G.5
Axelrod, F.B.6
-
10
-
-
33745034833
-
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
-
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
-
12
-
-
33846027506
-
Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia
-
Ibrahim E.C., Hims M.M., Shomron N., Burge C.B., Slaugenhaupt S.A., Reed R. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. Human Mutation 2007, 28:41-53.
-
(2007)
Human Mutation
, vol.28
, pp. 41-53
-
-
Ibrahim, E.C.1
Hims, M.M.2
Shomron, N.3
Burge, C.B.4
Slaugenhaupt, S.A.5
Reed, R.6
-
13
-
-
0035089807
-
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
-
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
|