Literature DB >> 17186213

Better days are coming for Riley-Day patients.

F C Luft1.   

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Year:  2006        PMID： 17186213     DOI： 10.1007/s00109-006-0144-3

Source DB:  PubMed          Journal:  J Mol Med (Berl)        ISSN： 0946-2716            Impact factor:   4.599


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  16 in total

Review 1.  Spliceosomal UsnRNP biogenesis, structure and function.

Authors:  C L Will; R Lührmann
Journal:  Curr Opin Cell Biol       Date:  2001-06       Impact factor: 8.382

Review 2.  Sorting out the complexity of SR protein functions.

Authors:  B R Graveley
Journal:  RNA       Date:  2000-09       Impact factor: 4.942

Review 3.  Pre-mRNA splicing and human disease.

Authors:  Nuno André Faustino; Thomas A Cooper
Journal:  Genes Dev       Date:  2003-02-15       Impact factor: 11.361

4.  Teaching old drugs new tricks. Meeting of the Neurodegeneration Drug Screening Consortium, 7-8 April 2002, Washington, DC, USA.

Authors:  Jill Heemskerk; Allan J Tobin; Lisa J Bain
Journal:  Trends Neurosci       Date:  2002-10       Impact factor: 13.837

5.  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

6.  Central autonomic dysfunction with defective lacrimation; report of five cases.

Authors:  C M RILEY; R L DAY
Journal:  Pediatrics       Date:  1949-04       Impact factor: 7.124

7.  Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients.

Authors:  C Andreassi; J Jarecki; J Zhou; D D Coovert; U R Monani; X Chen; M Whitney; B Pollok; M Zhang; E Androphy; A H Burghes
Journal:  Hum Mol Genet       Date:  2001-11-15       Impact factor: 6.150

Review 8.  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

9.  Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations.

Authors:  M Nissim-Rafinia; O Chiba-Falek; G Sharon; A Boss; B Kerem
Journal:  Hum Mol Genet       Date:  2000-07-22       Impact factor: 6.150

10.  An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA.

Authors:  M L Zhang; C L Lorson; E J Androphy; J Zhou
Journal:  Gene Ther       Date:  2001-10       Impact factor: 5.250
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