Literature DB >> 16777588

Familial dysautonomia: update and recent advances.

Gabrielle Gold-von Simson1, Felicia B Axelrod.   

Abstract

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Year:  2006        PMID: 16777588     DOI: 10.1016/j.cppeds.2005.12.001

Source DB:  PubMed          Journal:  Curr Probl Pediatr Adolesc Health Care        ISSN: 1538-3199


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  23 in total

Review 1.  Inherited neuropathies: clinical overview and update.

Authors:  Christopher J Klein; Xiaohui Duan; Michael E Shy
Journal:  Muscle Nerve       Date:  2013-06-26       Impact factor: 3.217

2.  Clinical neuro-ophthalmic findings in familial dysautonomia.

Authors:  Carlos E Mendoza-Santiesteban; Thomas R Hedges; Lucy Norcliffe-Kaufmann; Floyd Warren; Shantan Reddy; Felicia B Axelrod; Horacio Kaufmann
Journal:  J Neuroophthalmol       Date:  2012-03       Impact factor: 3.042

3.  Lack of migraine in headaches of familial dysautonomia patients.

Authors:  Boris Shihman; Israel Steiner; Ivelin Yovchev; Channa Maayan
Journal:  J Neural Transm (Vienna)       Date:  2012-10-09       Impact factor: 3.575

4.  Central Hypoventilation Syndromes.

Authors:  Christopher Cielo; Carole L Marcus
Journal:  Sleep Med Clin       Date:  2014-03-01

5.  Specific correction of a splice defect in brain by nutritional supplementation.

Authors:  Ranjit S Shetty; Cary S Gallagher; Yei-Tsung Chen; Matthew M Hims; James Mull; Maire Leyne; James Pickel; David Kwok; Susan A Slaugenhaupt
Journal:  Hum Mol Genet       Date:  2011-08-05       Impact factor: 6.150

Review 6.  The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.

Authors:  Berish Y Rubin; Sylvia L Anderson
Journal:  Neuromolecular Med       Date:  2007-11-06       Impact factor: 3.843

7.  Defects in tRNA modification associated with neurological and developmental dysfunctions in Caenorhabditis elegans elongator mutants.

Authors:  Changchun Chen; Simon Tuck; Anders S Byström
Journal:  PLoS Genet       Date:  2009-07-10       Impact factor: 5.917

8.  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

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.  Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent.

Authors:  Abel Ramírez-Estudillo; Gerardo González-Saldivar; Itzel Espinosa-Soto; Jesús González-Cortez; Alejandro Salcido-Montenegro
Journal:  J Clin Diagn Res       Date:  2017-07-01
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