Literature DB >> 399775

Familial dysautonomia (a brief review).

J Pearson.   

Abstract

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Year:  1979        PMID： 399775     DOI： 10.1016/0165-1838(79)90010-9

Source DB:  PubMed          Journal:  J Auton Nerv Syst        ISSN： 0165-1838


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  12 in total

1.  Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

Authors:  Matthew M Hims; El Chérif Ibrahim; Maire Leyne; James Mull; Lijuan Liu; Conxi Lazaro; Ranjit S Shetty; Sandra Gill; James F Gusella; Robin Reed; Susan A Slaugenhaupt
Journal:  J Mol Med (Berl)       Date:  2007-01-06       Impact factor: 4.599

2.  Reduced substance P-like immunoreactivity in hereditary sensory neuropathy of pointer dogs.

Authors:  J F Cummings; A de Lahunta; S T Simpson; J M McDonald
Journal:  Acta Neuropathol       Date:  1984       Impact factor: 17.088

3.  A new type of non-progressive sensory neuropathy in children with atypical dysautonomia.

Authors:  C Nordborg; N Conradi; P Sourander; B Westerberg
Journal:  Acta Neuropathol       Date:  1981       Impact factor: 17.088

4.  ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Authors:  Elisabetta Morini; Dadi Gao; Connor M Montgomery; Monica Salani; Chiara Mazzasette; Tobias A Krussig; Brooke Swain; Paula Dietrich; Jana Narasimhan; Vijayalakshmi Gabbeta; Amal Dakka; Jean Hedrick; Xin Zhao; Marla Weetall; Nikolai A Naryshkin; Gregory G Wojtkiewicz; Chien-Ping Ko; Michael E Talkowski; Ioannis Dragatsis; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2019-03-21       Impact factor: 11.025

5.  Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Authors:  Math P Cuajungco; Maire Leyne; James Mull; Sandra P Gill; Weining Lu; David Zagzag; Felicia B Axelrod; Channa Maayan; James F Gusella; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2003-02-06       Impact factor: 11.025

6.  Biochemical and anatomical effects of antibodies against nerve growth factor on developing rat sensory ganglia.

Authors:  M Goedert; U Otten; S P Hunt; A Bond; D Chapman; M Schlumpf; W Lichtensteiger
Journal:  Proc Natl Acad Sci U S A       Date:  1984-03       Impact factor: 11.205

7.  Gastroesophageal fundoplication and gastrostomy in familial dysautonomia.

Authors:  F B Axelrod; K M Schneider; M E Ament; N D Kutin; E W Fonkalsrud
Journal:  Ann Surg       Date:  1982-03       Impact factor: 12.969

8.  Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

Authors:  Yei-Tsung Chen; Matthew M Hims; Ranjit S Shetty; James Mull; Lijuan Liu; Maire Leyne; Susan A Slaugenhaupt
Journal:  Mol Cell Biol       Date:  2008-11-17       Impact factor: 4.272

9.  A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Authors:  Matthew M Hims; Ranjit S Shetty; James Pickel; James Mull; Maire Leyne; Lijuan Liu; James F Gusella; Susan A Slaugenhaupt
Journal:  Genomics       Date:  2007-07-17       Impact factor: 5.736

10.  Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

Authors:  Elisabetta Morini; Paula Dietrich; Monica Salani; Heather M Downs; Gregory R Wojtkiewicz; Shanta Alli; Anthony Brenner; Mats Nilbratt; John W LeClair; Anne Louise Oaklander; Susan A Slaugenhaupt; Ioannis Dragatsis
Journal:  Hum Mol Genet       Date:  2016-01-13       Impact factor: 6.150
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