Literature DB >> 24222099

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia.

Gavin Charlesworth1, Kailash P Bhatia, Nicholas W Wood.   

Abstract

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Year:  2013        PMID： 24222099      PMCID： PMC4235246          DOI： 10.1002/mds.25713

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  2 in total

1.  Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Authors:  Satya R Vemula; Andreas Puschmann; Jianfeng Xiao; Yu Zhao; Monika Rudzińska; Karen P Frei; Daniel D Truong; Zbigniew K Wszolek; Mark S LeDoux
Journal:  Hum Mol Genet       Date:  2013-02-27       Impact factor: 6.150

2.  Mutations in GNAL cause primary torsion dystonia.

Authors:  Tania Fuchs; Rachel Saunders-Pullman; Ikuo Masuho; Marta San Luciano; Deborah Raymond; Stewart Factor; Anthony E Lang; Tsao-Wei Liang; Richard M Trosch; Sierra White; Edmond Ainehsazan; Denis Hervé; Nutan Sharma; Michelle E Ehrlich; Kirill A Martemyanov; Susan B Bressman; Laurie J Ozelius
Journal:  Nat Genet       Date:  2012-12-09       Impact factor: 38.330
  2 in total
  2 in total

Review 1.  Recent advances in the genetics of dystonia.

Authors:  Jianfeng Xiao; Satya R Vemula; Mark S LeDoux
Journal:  Curr Neurol Neurosci Rep       Date:  2014-08       Impact factor: 5.081

2.  Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function.

Authors:  Camila Oliveira Dos Santos; Ikuo Masuho; Francisco Pereira da Silva-Júnior; Egberto Reis Barbosa; Sonia Maria Cesar Azevedo Silva; Vanderci Borges; Henrique Ballalai Ferraz; Maria Sheila Guimarães Rocha; João Carlos Papaterra Limongi; Kirill A Martemyanov; Patricia de Carvalho Aguiar
Journal:  J Neurol       Date:  2016-01-25       Impact factor: 4.849
  2 in total

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