Literature DB >> 23355175

Mutations in PDYN are not responsible for multiple system atrophy.

Brent L Fogel, Cameron Baker, Andrew Curnow, Susan L Perlman, Daniel H Geschwind, Giovanni Coppola.   

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Year:  2013        PMID： 23355175      PMCID： PMC3594076          DOI： 10.1007/s00415-012-6830-x

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Authors:  Brent L Fogel; Ji Yong Lee; Jessica Lane; Amanda Wahnich; Sandy Chan; Alden Huang; Greg E Osborn; Eric Klein; Catherine Mamah; Susan Perlman; Daniel H Geschwind; Giovanni Coppola
Journal:  Mov Disord       Date:  2012-01-27       Impact factor: 10.338

2.  Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

Authors:  Georgy Bakalkin; Hiroyuki Watanabe; Justyna Jezierska; Cloë Depoorter; Corien Verschuuren-Bemelmans; Igor Bazov; Konstantin A Artemenko; Tatjana Yakovleva; Dennis Dooijes; Bart P C Van de Warrenburg; Roman A Zubarev; Berry Kremer; Pamela E Knapp; Kurt F Hauser; Cisca Wijmenga; Fred Nyberg; Richard J Sinke; Dineke S Verbeek
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

Review 3.  Advances in understanding the molecular basis of FXTAS.

Authors:  Dolores Garcia-Arocena; Paul J Hagerman
Journal:  Hum Mol Genet       Date:  2010-04-29       Impact factor: 6.150

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

Authors:  J Schicks; M Synofzik; C Beetz; F Schiele; L Schöls
Journal:  Clin Genet       Date:  2011-11       Impact factor: 4.438

5.  TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.

Authors:  Jun Ling Wang; Xu Yang; Kun Xia; Zheng Mao Hu; Ling Weng; Xin Jin; Hong Jiang; Peng Zhang; Lu Shen; Ji Feng Guo; Nan Li; Ying Rui Li; Li Fang Lei; Jie Zhou; Juan Du; Ya Fang Zhou; Qian Pan; Jian Wang; Jun Wang; Rui Qiang Li; Bei Sha Tang
Journal:  Brain       Date:  2010-11-23       Impact factor: 13.501

6.  Transglutaminase-induced cross-linking of tau proteins in progressive supranuclear palsy.

Authors:  M O Zemaitaitis; J M Lee; J C Troncoso; N A Muma
Journal:  J Neuropathol Exp Neurol       Date:  2000-11       Impact factor: 3.685

7.  Transglutaminase activity, protein, and mRNA expression are increased in progressive supranuclear palsy.

Authors:  Magdalena O Zemaitaitis; Soo-Youl Kim; Robyn A Halverson; Juan C Troncoso; John M Lee; Nancy A Muma
Journal:  J Neuropathol Exp Neurol       Date:  2003-02       Impact factor: 3.685

8.  Second consensus statement on the diagnosis of multiple system atrophy.

Authors:  S Gilman; G K Wenning; P A Low; D J Brooks; C J Mathias; J Q Trojanowski; N W Wood; C Colosimo; A Dürr; C J Fowler; H Kaufmann; T Klockgether; A Lees; W Poewe; N Quinn; T Revesz; D Robertson; P Sandroni; K Seppi; M Vidailhet
Journal:  Neurology       Date:  2008-08-26       Impact factor: 9.910

9.  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
  9 in total
  2 in total

Review 1.  The neurogenetics of atypical parkinsonian disorders.

Authors:  Brent L Fogel; Mary C Clark; Daniel H Geschwind
Journal:  Semin Neurol       Date:  2014-06-25       Impact factor: 3.420

Review 2.  Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1.

Authors:  Kurt A Jellinger
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472
  2 in total

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