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Familial dysautonomia (Riley-Day syndrome): when baroreceptor feedback fails.
Norcliffe-Kaufmann L, Kaufmann H. Norcliffe-Kaufmann L, et al. Auton Neurosci. 2012 Dec 24;172(1-2):26-30. doi: 10.1016/j.autneu.2012.10.012. Epub 2012 Nov 20. Auton Neurosci. 2012. PMID: 23178195 Review.
Usefulness of tilt-induced heart rate changes in the differential diagnosis of vasovagal syncope and chronic autonomic failure.
Téllez MJ, Norcliffe-Kaufmann LJ, Lenina S, Voustianiouk A, Kaufmann H. Téllez MJ, et al. Clin Auton Res. 2009 Dec;19(6):375-80. doi: 10.1007/s10286-009-0039-9. Clin Auton Res. 2009. PMID: 19834645
Tachyarrythmias with elevated cardiac enzymes in Münchausen syndrome.
Norcliffe-Kaufmann L, Gonzalez-Duarte A, Martinez J, Kaufmann H. Norcliffe-Kaufmann L, et al. Clin Auton Res. 2010 Aug;20(4):259-61. doi: 10.1007/s10286-010-0066-6. Epub 2010 Apr 28. Clin Auton Res. 2010. PMID: 20424883
Afferent baroreflex failure in familial dysautonomia.
Norcliffe-Kaufmann L, Axelrod F, Kaufmann H. Norcliffe-Kaufmann L, et al. Neurology. 2010 Nov 23;75(21):1904-11. doi: 10.1212/WNL.0b013e3181feb283. Neurology. 2010. PMID: 21098405 Free PMC article.
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.
Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA. Axelrod FB, et al. Pediatr Res. 2011 Nov;70(5):480-3. doi: 10.1203/PDR.0b013e31822e1825. Pediatr Res. 2011. PMID: 21775922 Free PMC article.
Clinical neuro-ophthalmic findings in familial dysautonomia.
Mendoza-Santiesteban CE, Hedges TR 3rd, Norcliffe-Kaufmann L, Warren F, Reddy S, Axelrod FB, Kaufmann H. Mendoza-Santiesteban CE, et al. J Neuroophthalmol. 2012 Mar;32(1):23-6. doi: 10.1097/WNO.0b013e318230feab. J Neuroophthalmol. 2012. PMID: 21918475 Free PMC article.
The Orthostatic Hypotension Questionnaire (OHQ): validation of a novel symptom assessment scale.
Kaufmann H, Malamut R, Norcliffe-Kaufmann L, Rosa K, Freeman R. Kaufmann H, et al. Clin Auton Res. 2012 Apr;22(2):79-90. doi: 10.1007/s10286-011-0146-2. Epub 2011 Nov 2. Clin Auton Res. 2012. PMID: 22045363 Clinical Trial.
Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?
Macefield VG, Norcliffe-Kaufmann L, Gutiérrez J, Axelrod FB, Kaufmann H. Macefield VG, et al. Brain. 2011 Nov;134(Pt 11):3198-208. doi: 10.1093/brain/awr168. Brain. 2011. PMID: 22075519 Free PMC article.
Cyclic vomiting associated with excessive dopamine in Riley-day syndrome.
Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H. Norcliffe-Kaufmann LJ, et al. J Clin Gastroenterol. 2013 Feb;47(2):136-8. doi: 10.1097/MCG.0b013e3182582cbf. J Clin Gastroenterol. 2013. PMID: 22739220 Free PMC article.
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