Literature DB >> 152174

Additional information on familial essential (benign) chorea.

T D Bird, J G Hall.   

Abstract

Entities:  

Mesh：

Year:  1978        PMID： 152174     DOI： 10.1111/j.1399-0004.1978.tb02146.x

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


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  5 in total

1.  ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Authors:  Dong-Hui Chen; Aurélie Méneret; Jennifer R Friedman; Olena Korvatska; Alona Gad; Emily S Bonkowski; Holly A Stessman; Diane Doummar; Cyril Mignot; Mathieu Anheim; Saunder Bernes; Marie Y Davis; Nathalie Damon-Perrière; Bertrand Degos; David Grabli; Domitille Gras; Fuki M Hisama; Katherine M Mackenzie; Phillip D Swanson; Christine Tranchant; Marie Vidailhet; Steven Winesett; Oriane Trouillard; Laura M Amendola; Michael O Dorschner; Michael Weiss; Evan E Eichler; Ali Torkamani; Emmanuel Roze; Thomas D Bird; Wendy H Raskind
Journal:  Neurology       Date:  2015-11-04       Impact factor: 9.910

2.  Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Authors:  Ying-Zhang Chen; Jennifer R Friedman; Dong-Hui Chen; Guy C-K Chan; Cinnamon S Bloss; Fuki M Hisama; Sarah E Topol; Andrew R Carson; Phillip H Pham; Emily S Bonkowski; Erick R Scott; Janel K Lee; Guangfa Zhang; Glenn Oliveira; Jian Xu; Ashley A Scott-Van Zeeland; Qi Chen; Samuel Levy; Eric J Topol; Daniel Storm; Phillip D Swanson; Thomas D Bird; Nicholas J Schork; Wendy H Raskind; Ali Torkamani
Journal:  Ann Neurol       Date:  2014-03-13       Impact factor: 10.422

3.  Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Authors:  Ying-Zhang Chen; Mark M Matsushita; Peggy Robertson; Mark Rieder; Santhosh Girirajan; Francesca Antonacci; Hillary Lipe; Evan E Eichler; Deborah A Nickerson; Thomas D Bird; Wendy H Raskind
Journal:  Arch Neurol       Date:  2012-05

Review 4.  ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Authors:  Nirosen Vijiaratnam; Kailash P Bhatia; Anthony E Lang; Wendy H Raskind; Alberto J Espay
Journal:  Mov Disord Clin Pract       Date:  2019-08-19

5.  Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.

Authors:  Ana Luísa de Almeida Marcelino; Tina Mainka; Patricia Krause; Werner Poewe; Christos Ganos; Andrea A Kühn
Journal:  J Neurol       Date:  2020-07-09       Impact factor: 4.849
  5 in total

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