Literature DB >> 28707017

Basic research and model systems in familial dysautonomia: What do we know and what's next?

Antonio Heras-Garvin1.   

Abstract

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Year:  2017        PMID： 28707017     DOI： 10.1007/s10286-017-0448-0

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


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  7 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.  Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Authors:  S A Slaugenhaupt; A Blumenfeld; S P Gill; M Leyne; J Mull; M P Cuajungco; C B Liebert; B Chadwick; M Idelson; L Reznik; C Robbins; I Makalowska; M Brownstein; D Krappmann; C Scheidereit; C Maayan; F B Axelrod; J F Gusella
Journal:  Am J Hum Genet       Date:  2001-01-22       Impact factor: 11.025

3.  Familial dysautonomia is caused by mutations of the IKAP gene.

Authors:  S L Anderson; R Coli; I W Daly; E A Kichula; M J Rork; S A Volpi; J Ekstein; B Y Rubin
Journal:  Am J Hum Genet       Date:  2001-01-22       Impact factor: 11.025

Review 4.  Current treatments in familial dysautonomia.

Authors:  Jose-Alberto Palma; Lucy Norcliffe-Kaufmann; Cristina Fuente-Mora; Leila Percival; Carlos Mendoza-Santiesteban; Horacio Kaufmann
Journal:  Expert Opin Pharmacother       Date:  2014-10-17       Impact factor: 3.889

Review 5.  Familial dysautonomia: History, genotype, phenotype and translational research.

Authors:  Lucy Norcliffe-Kaufmann; Susan A Slaugenhaupt; Horacio Kaufmann
Journal:  Prog Neurobiol       Date:  2016-06-15       Impact factor: 11.685

6.  Elongator - an emerging role in neurological disorders.

Authors:  Laurent Nguyen; Sandrine Humbert; Frédéric Saudou; Alain Chariot
Journal:  Trends Mol Med       Date:  2009-12-23       Impact factor: 11.951

7.  Familial Dysautonomia: Mechanisms and Models.

Authors:  Paula Dietrich; Ioannis Dragatsis
Journal:  Genet Mol Biol       Date:  2016-08-04       Impact factor: 1.771
  7 in total
  2 in total

Review 1.  Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.

Authors:  Mikhail Kazachkov; Jose-Alberto Palma; Lucy Norcliffe-Kaufmann; Bat-El Bar-Aluma; Christy L Spalink; Erin P Barnes; Nancy E Amoroso; Stamatela M Balou; Shay Bess; Arun Chopra; Rany Condos; Ori Efrati; Kathryn Fitzgerald; David Fridman; Ronald M Goldenberg; Ayelet Goldhaber; David A Kaufman; Sanjeev V Kothare; Jeremiah Levine; Joseph Levy; Anthony S Lubinsky; Channa Maayan; Libia C Moy; Pedro J Rivera; Alcibiades J Rodriguez; Gil Sokol; Mark F Sloane; Tina Tan; Horacio Kaufmann
Journal:  Respir Med       Date:  2018-06-21       Impact factor: 3.415

Review 2.  Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep.

Authors:  Jose-Alberto Palma; Alex Gileles-Hillel; Lucy Norcliffe-Kaufmann; Horacio Kaufmann
Journal:  Auton Neurosci       Date:  2019-02-15       Impact factor: 3.145
  2 in total

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