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Results: 18

1.

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.

Jackson MZ, Gruner KA, Qin C, Tourtellotte WG.

Development. 2014 Jun;141(12):2452-61. doi: 10.1242/dev.107797.

PMID:
24917501
[PubMed - indexed for MEDLINE]
Free Article
2.

Pain insensitivity syndrome misinterpreted as inflicted burns.

van den Bosch GE, Baartmans MG, Vos P, Dokter J, White T, Tibboel D.

Pediatrics. 2014 May;133(5):e1381-7. doi: 10.1542/peds.2013-2015. Epub 2014 Apr 14.

PMID:
24733875
[PubMed - indexed for MEDLINE]
3.

Onabotulinum toxin A for the treatment of sialorrhea in familial dysautonomia.

Daniel SJ, Cardona I.

Int J Pediatr Otorhinolaryngol. 2014 May;78(5):879-81. doi: 10.1016/j.ijporl.2014.02.011. Epub 2014 Feb 15.

PMID:
24725647
[PubMed - indexed for MEDLINE]
4.

Selective retinal ganglion cell loss in familial dysautonomia.

Mendoza-Santiesteban CE, Hedges Iii TR, Norcliffe-Kaufmann L, Axelrod F, Kaufmann H.

J Neurol. 2014 Apr;261(4):702-9. doi: 10.1007/s00415-014-7258-2. Epub 2014 Feb 2.

PMID:
24487827
[PubMed - indexed for MEDLINE]
5.

Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients.

Cheishvili D, Laiba E, Rekhtman D, Claman A, Razin A, Maayan C.

Auton Neurosci. 2014 Feb;180:59-65. doi: 10.1016/j.autneu.2013.10.009. Epub 2013 Nov 1.

PMID:
24268683
[PubMed - indexed for MEDLINE]
6.

Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.

Liu B, Anderson SL, Qiu J, Rubin BY.

FEBS J. 2013 Aug;280(15):3632-46. doi: 10.1111/febs.12355. Epub 2013 Jun 18.

PMID:
23711097
[PubMed - indexed for MEDLINE]
7.

Relationship between proprioception at the knee joint and gait ataxia in HSAN III.

Macefield VG, Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H.

Mov Disord. 2013 Jun;28(6):823-7. doi: 10.1002/mds.25482. Epub 2013 May 16.

PMID:
23681701
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Hyperdopaminergic crises in familial dysautonomia: a randomized trial of carbidopa.

Norcliffe-Kaufmann L, Martinez J, Axelrod F, Kaufmann H.

Neurology. 2013 Apr 23;80(17):1611-7. doi: 10.1212/WNL.0b013e31828f18f0. Epub 2013 Apr 3.

PMID:
23553478
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.

Bochner R, Ziv Y, Zeevi D, Donyo M, Abraham L, Ashery-Padan R, Ast G.

Hum Mol Genet. 2013 Jul 15;22(14):2785-94. doi: 10.1093/hmg/ddt126. Epub 2013 Mar 20.

PMID:
23515154
[PubMed - indexed for MEDLINE]
Free Article
10.

Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails.

Norcliffe-Kaufmann L, Kaufmann H.

Auton Neurosci. 2012 Dec 24;172(1-2):26-30. doi: 10.1016/j.autneu.2012.10.012. Epub 2012 Nov 20. Review.

PMID:
23178195
[PubMed - indexed for MEDLINE]
11.

Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia.

Macefield VG, Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H.

J Physiol. 2013 Feb 1;591(Pt 3):689-700. doi: 10.1113/jphysiol.2012.246264. Epub 2012 Nov 19.

PMID:
23165765
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression.

Lee G, Ramirez CN, Kim H, Zeltner N, Liu B, Radu C, Bhinder B, Kim YJ, Choi IY, Mukherjee-Clavin B, Djaballah H, Studer L.

Nat Biotechnol. 2012 Dec;30(12):1244-8. doi: 10.1038/nbt.2435. Epub 2012 Nov 25.

PMID:
23159879
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Lack of migraine in headaches of familial dysautonomia patients.

Shihman B, Steiner I, Yovchev I, Maayan C.

J Neural Transm. 2013 Mar;120(3):399-402. doi: 10.1007/s00702-012-0903-y. Epub 2012 Oct 9.

PMID:
23053351
[PubMed - indexed for MEDLINE]
14.

Case scenario: perioperative administration of tocotrienols and green tea extract in a child with familial dysautonomia.

Cook-Sather SD, Viola L, Zur KB, Rubin BY.

Anesthesiology. 2012 Sep;117(3):639-45. No abstract available.

PMID:
22850346
[PubMed - indexed for MEDLINE]
15.

Cyclic vomiting associated with excessive dopamine in Riley-day syndrome.

Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H.

J Clin Gastroenterol. 2013 Feb;47(2):136-8. doi: 10.1097/MCG.0b013e3182582cbf.

PMID:
22739220
[PubMed - indexed for MEDLINE]
16.

A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome).

Axelrod FB, Rolnitzky L, Gold von Simson G, Berlin D, Kaufmann H.

J Pediatr. 2012 Dec;161(6):1160-5. doi: 10.1016/j.jpeds.2012.05.038. Epub 2012 Jun 23.

PMID:
22727867
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Combined counter-maneuvers accelerate recovery from orthostatic hypotension in familial dysautonomia.

Hilz MJ, Ehmann EC, Pauli E, Baltadzhieva R, Koehn J, Moeller S, DeFina P, Axelrod FB.

Acta Neurol Scand. 2012 Sep;126(3):162-70. doi: 10.1111/j.1600-0404.2012.01670.x. Epub 2012 May 10.

PMID:
22571291
[PubMed - indexed for MEDLINE]
18.

Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells.

Anderson SL, Liu B, Qiu J, Sturm AJ, Schwartz JA, Peters AJ, Sullivan KA, Rubin BY.

Mol Nutr Food Res. 2012 Apr;56(4):570-9. doi: 10.1002/mnfr.201100670.

PMID:
22495984
[PubMed - indexed for MEDLINE]
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