Literature DB >> 16683067

A world without pain or tears.

Felicia B Axelrod1.   

Abstract

The world of the child with familial dysautonomia (FD), a genetic disorder affecting development of the sensory and autonomic nervous system, is not idyllic. However, over the last 35 years advances in supportive treatments have improved morbidity and mortality. Recent genetic breakthroughs have further expanded thinking about this disorder and suggested innovative approaches to modifying genetic expression. This article reviews the current supportive treatment modalities and their rationale, as well as the suggested new treatments that may alter the function and prognosis of an individual affected with FD.

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Year:  2006        PMID: 16683067     DOI: 10.1007/s10286-006-0326-7

Source DB:  PubMed          Journal:  Clin Auton Res        ISSN: 0959-9851            Impact factor:   4.435


  66 in total

1.  Pattern of plasma levels of catecholamines in familial dysautonomia.

Authors:  F B Axelrod; D S Goldstein; C Holmes; D Berlin; I J Kopin
Journal:  Clin Auton Res       Date:  1996-08       Impact factor: 4.435

2.  Neonatal recognition of familial dysautonomia.

Authors:  F B Axelrod; R F Porges; M E Sein
Journal:  J Pediatr       Date:  1987-06       Impact factor: 4.406

3.  Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects.

Authors:  J Pearson; F Axelrod; J Dancis
Journal:  Ann N Y Acad Sci       Date:  1974-03-22       Impact factor: 5.691

Review 4.  Pacemakers in patients with familial dysautonomia--a review of experience with 20 patients.

Authors:  Gabrielle Gold-von Simson; Monika Rutkowski; Dena Berlin; Felicia B Axelrod
Journal:  Clin Auton Res       Date:  2005-02       Impact factor: 4.435

5.  Familial dysautonomia.

Authors:  J Dancis; A A Smith
Journal:  N Engl J Med       Date:  1966-01-27       Impact factor: 91.245

6.  Valsalva maneuver suggests increased rigidity of cerebral resistance vessels in familial dysautonomia.

Authors:  M J Hilz; F B Axelrod; M Steingrueber; B Stemper
Journal:  Clin Auton Res       Date:  2002-10       Impact factor: 4.435

7.  Deficient sympathetic nervous response in familial dysautonomia.

Authors:  M G Ziegler; C R Lake; I J Kopin
Journal:  N Engl J Med       Date:  1976-03-18       Impact factor: 91.245

8.  Progressive sensory loss in familial dysautonomia.

Authors:  F B Axelrod; K Iyer; I Fish; J Pearson; M E Sein; N Spielholz
Journal:  Pediatrics       Date:  1981-04       Impact factor: 7.124

9.  The effects of postural change and exercise on renal haemodynamics in familial dysautonomia.

Authors:  F B Axelrod; J S Glickstein; J Weider; M C Gluck; D Friedman
Journal:  Clin Auton Res       Date:  1993-06       Impact factor: 4.435

10.  Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.

Authors:  Jianli Dong; Lisa Edelmann; Asghar M Bajwa; Ruth Kornreich; Robert J Desnick
Journal:  Am J Med Genet       Date:  2002-07-01
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  16 in total

Review 1.  Animal and cellular models of familial dysautonomia.

Authors:  Frances Lefcort; Marc Mergy; Sarah B Ohlen; Yumi Ueki; Lynn George
Journal:  Clin Auton Res       Date:  2017-06-30       Impact factor: 4.435

2.  IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.

Authors:  Barbara J Hunnicutt; Marta Chaverra; Lynn George; Frances Lefcort
Journal:  PLoS One       Date:  2012-02-23       Impact factor: 3.240

Review 3.  Renal transplantation in familial dysautonomia: report of two cases and review of the literature.

Authors:  Yelena Rekhtman; Andrew S Bomback; Martin A Nash; Scott D Cohen; Albert Matalon; Dominique M Jan; Horacio Kaufmann; Felicia B Axelrod; Jai Radhakrishnan; Gerald B Appel
Journal:  Clin J Am Soc Nephrol       Date:  2010-06-17       Impact factor: 8.237

4.  BGP-15 prevents the death of neurons in a mouse model of familial dysautonomia.

Authors:  Sarah B Ohlen; Magdalena L Russell; Michael J Brownstein; Frances Lefcort
Journal:  Proc Natl Acad Sci U S A       Date:  2017-04-24       Impact factor: 11.205

5.  Neuroimaging supports central pathology in familial dysautonomia.

Authors:  Felicia B Axelrod; Max J Hilz; Dena Berlin; Po Lai Yau; David Javier; Victoria Sweat; Hannah Bruehl; Antonio Convit
Journal:  J Neurol       Date:  2009-08-25       Impact factor: 4.849

6.  Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia.

Authors:  Max J Hilz; Sebastian Moeller; Susanne Buechner; Hanna Czarkowska; Indu Ayappa; Felicia B Axelrod; David M Rapoport
Journal:  J Clin Sleep Med       Date:  2016-12-15       Impact factor: 4.062

7.  Echocardiographic abnormalities in familial dysautonomia.

Authors:  Udi Nussinovitch; Uriel Katz; Moshe Nussinovitch; Leonard Blieden; Naomi Nussinovitch
Journal:  Pediatr Cardiol       Date:  2009-07-30       Impact factor: 1.655

8.  Cardiac sympathetic hypo-innervation in familial dysautonomia.

Authors:  David S Goldstein; Basil Eldadah; Yehonatan Sharabi; Felicia B Axelrod
Journal:  Clin Auton Res       Date:  2008-05-22       Impact factor: 4.435

9.  Late ventricular potentials and QT dispersion in familial dysautonomia.

Authors:  Udi Nussinovitch; Uriel Katz; Moshe Nussinovitch; Naomi Nussinovitch
Journal:  Pediatr Cardiol       Date:  2009-04-02       Impact factor: 1.655

10.  Beat-to-beat QT interval dynamics and variability in familial dysautonomia.

Authors:  Udi Nussinovitch; Uriel Katz; Moshe Nussinovitch; Naomi Nussinovitch
Journal:  Pediatr Cardiol       Date:  2009-11-14       Impact factor: 1.655

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