Literature DB >> 22243190

Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe.

J Schicks, M Synofzik, C Beetz, F Schiele, L Schöls.   

Abstract

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Year:  2011        PMID： 22243190     DOI： 10.1111/j.1399-0004.2011.01651.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Revisiting disease genes based on whole-exome sequencing in consanguineous populations.

Authors:  Ahmed Shamia; Ranad Shaheen; Nouran Sabbagh; Agaadir Almoisheer; Anason Halees; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2015-07-04       Impact factor: 4.132

2.  Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.

Authors:  Justyna Jezierska; Giovanni Stevanin; Hiroyuki Watanabe; Michiel R Fokkens; Fabien Zagnoli; Jérôme Kok; Jean-Yves Goas; Pierre Bertrand; Christophe Robin; Alexis Brice; Georgy Bakalkin; Alexandra Durr; Dineke S Verbeek
Journal:  J Neurol       Date:  2013-03-08       Impact factor: 4.849

3.  Mutations in PDYN are not responsible for multiple system atrophy.

Authors:  Brent L Fogel; Cameron Baker; Andrew Curnow; Susan L Perlman; Daniel H Geschwind; Giovanni Coppola
Journal:  J Neurol       Date:  2013-01-25       Impact factor: 4.849

4.  The frequency of spinocerebellar ataxia type 23 in a UK population.

Authors:  Katherine Fawcett; Mohadeseh Mehrabian; Yo-Tsen Liu; Sherifa Hamed; Elahe Elahi; Tamas Revesz; Georgios Koutsis; Joshua Herscheson; Lucia Schottlaender; Mark Wardle; Patrick J Morrison; Huw R Morris; Paola Giunti; Nicholas Wood; Henry Houlden
Journal:  J Neurol       Date:  2012-10-30       Impact factor: 4.849

Review 5.  Spinocerebellar ataxia type 23 (SCA23): a review.

Authors:  Fan Wu; Xu Wang; Xiaohan Li; Huidi Teng; Tao Tian; Jing Bai
Journal:  J Neurol       Date:  2020-11-11       Impact factor: 6.682
  5 in total

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