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Felicia B Axelrod

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Articles 55
Citations 1780
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Recent Articles
1.
J Hilz M, Moeller S, Buechner S, Czarkowska H, Ayappa I, Axelrod F, et al.
J Clin Sleep Med . 2016 Sep; 12(12):1607-1614. PMID: 27655467
Study Objectives: In familial dysautonomia (FD) patients, sleep-disordered breathing (SDB) might contribute to their high risk of sleep-related sudden death. Prevalence of central versus obstructive sleep apneas is controversial but...
2.
Macefield V, Norcliffe-Kaufmann L, Loken L, Axelrod F, Kaufmann H
Int J Psychophysiol . 2014 Apr; 93(1):56-61. PMID: 24726998
Hereditary sensory and autonomic neuropathy type III (HSAN III, Riley-Day syndrome, Familial Dysautomia) is characterised by elevated thermal thresholds and an indifference to pain. Using microelectrode recordings we recently showed...
3.
Macefield V, Norcliffe-Kaufmann L, Axelrod F, Kaufmann H
Mov Disord . 2013 May; 28(6):823-7. PMID: 23681701
Background: Hereditary sensory and autonomic neuropathy type III features marked ataxic gait that progressively worsens over time. We assessed whether proprioceptive disturbances can explain the ataxia. Methods: Proprioception at the...
4.
Axelrod F
Semin Pediatr Neurol . 2013 Mar; 20(1):3-11. PMID: 23465768
Genetic disorders affecting the autonomic nervous system can result in abnormal development of the nervous system or they can be caused by neurotransmitter imbalance, an ion-channel disturbance or by storage...
5.
Macefield V, Norcliffe-Kaufmann L, Axelrod F, Kaufmann H
J Physiol . 2012 Nov; 591(3):689-700. PMID: 23165765
Familial dysautonomia (Riley-Day syndrome) is an hereditary sensory and autonomic neuropathy (HSAN type III), expressed at birth, that is associated with reduced pain and temperature sensibilities and absent baroreflexes, causing...
6.
Norcliffe-Kaufmann L, Axelrod F, Kaufmann H
J Clin Gastroenterol . 2012 Jun; 47(2):136-8. PMID: 22739220
Goals: To analyze the neurochemical profile during the recurrent attacks of nausea and vomiting in patients with Riley-day syndrome. Background: One of the most disabling features of patients with Riley-day...
7.
Axelrod F, Rolnitzky L, Gold von Simson G, Berlin D, Kaufmann H
J Pediatr . 2012 Jun; 161(6):1160-5. PMID: 22727867
Objective: To develop a reliable rating scale to assess functional capacity in children with familial dysautonomia, evaluate changes over time, and determine whether severity within a particular functional category at...
8.
Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod F, et al.
Ann Neurol . 2012 Apr; 71(4):569-72. PMID: 22522446
In 4 infants with a new lethal autonomic sensory neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identified a deleterious mutation in the DST gene,...
9.
Boone N, Bergon A, Loriod B, Deveze A, Nguyen C, Axelrod F, et al.
Hum Mutat . 2011 Dec; 33(3):530-40. PMID: 22190446
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder. The most common mutation is a c.2204+6T>C transition in the 5' splice site (5'ss) of IKBKAP intron 20, which causes a...
10.
Macefield V, Norcliffe-Kaufmann L, Gutierrez J, Axelrod F, Kaufmann H
Brain . 2011 Nov; 134(Pt 11):3198-208. PMID: 22075519
The Riley-Day syndrome is the most common of the hereditary sensory and autonomic neuropathies (Type III). Among the well-recognized clinical features are reduced pain and temperature sensation, absent deep tendon...