Literature DB >> 18420150

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Philip Seibler, Ana Djarmati, Brigitte Langpap, Johann Hagenah, Alexander Schmidt, Norbert Brüggemann, Hartwig Siebner, Hans-Christian Jabusch, Eckart Altenmüller, Alexander Münchau, Katja Lohmann, Christine Klein.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2008        PMID： 18420150     DOI： 10.1016/S1474-4422(08)70075-9

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN： 1474-4422            Impact factor:   44.182


× No keyword cloud information.
  16 in total

Review 1.  Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease.

Authors:  Stefanie Gerstberger; Markus Hafner; Manuel Ascano; Thomas Tuschl
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

Review 2.  Genetics of primary torsion dystonia.

Authors:  Norbert Brüggemann; Christine Klein
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

Review 3.  Molecular pathways in dystonia.

Authors:  D Cristopher Bragg; Ioanna A Armata; Flavia C Nery; Xandra O Breakefield; Nutan Sharma
Journal:  Neurobiol Dis       Date:  2010-12-04       Impact factor: 5.996

4.  Novel compound heterozygous mutations in PRKRA cause pure dystonia.

Authors:  Patricia de Carvalho Aguiar; Vanderci Borges; Henrique Ballalai Ferraz; Laurie Jean Ozelius
Journal:  Mov Disord       Date:  2015-03-04       Impact factor: 10.338

Review 5.  The genetics of dystonias.

Authors:  Mark S LeDoux
Journal:  Adv Genet       Date:  2012       Impact factor: 1.944

6.  Exome sequencing for gene discovery: time does not stand still.

Authors:  Mark S LeDoux
Journal:  Ann Neurol       Date:  2012-10       Impact factor: 10.422

7.  The protein activator of protein kinase R, PACT/RAX, negatively regulates protein kinase R during mouse anterior pituitary development.

Authors:  Benjamin K Dickerman; Christine L White; Patricia M Kessler; Anthony J Sadler; Bryan R G Williams; Ganes C Sen
Journal:  FEBS J       Date:  2015-10-26       Impact factor: 5.542

8.  Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.

Authors:  Kristina Palmer; Heather Fairfield; Suhaib Borgeia; Michelle Curtain; Mohamed G Hassan; Louise Dionne; Son Yong Karst; Harold Coombs; Roderick T Bronson; Laura G Reinholdt; David E Bergstrom; Leah Rae Donahue; Timothy C Cox; Stephen A Murray
Journal:  Dev Biol       Date:  2015-07-31       Impact factor: 3.582

9.  Altered activation of protein kinase PKR and enhanced apoptosis in dystonia cells carrying a mutation in PKR activator protein PACT.

Authors:  Lauren S Vaughn; D Cristopher Bragg; Nutan Sharma; Sarah Camargos; Francisco Cardoso; Rekha C Patel
Journal:  J Biol Chem       Date:  2015-07-31       Impact factor: 5.157

10.  Incidental medical information in whole-exome sequencing.

Authors:  Benjamin D Solomon; Donald W Hadley; Daniel E Pineda-Alvarez; Aparna Kamat; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Benjamin E Berkman; Settara C Chandrasekharappa; James C Mullikin
Journal:  Pediatrics       Date:  2012-05-14       Impact factor: 7.124
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.