Literature DB >> 27933653

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Wendy H Raskind1,2,3, Jennifer R Friedman4,5, Emmanuel Roze6,7, Aurélie Méneret6,7, Dong-Hui Chen8, Thomas D Bird3,8.   

Abstract

Entities:  

Mesh：

Year:  2016        PMID： 27933653      PMCID： PMC5318268          DOI： 10.1002/mds.26888

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


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  5 in total

1.  ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Authors:  Jennifer R Friedman; Aurélie Méneret; Dong-Hui Chen; Oriane Trouillard; Marie Vidailhet; Wendy H Raskind; Emmanuel Roze
Journal:  Mov Disord       Date:  2015-12-21       Impact factor: 10.338

2.  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

3.  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

4.  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

5.  Phenotypic insights into ADCY5-associated disease.

Authors:  Florence C F Chang; Ana Westenberger; Russell C Dale; Martin Smith; Hardev S Pall; Belen Perez-Dueñas; Padraic Grattan-Smith; Robert A Ouvrier; Neil Mahant; Bernadette C Hanna; Matthew Hunter; John A Lawson; Christoph Max; Rani Sachdev; Esther Meyer; Dennis Crimmins; Donald Pryor; John G L Morris; Alex Münchau; Detelina Grozeva; Keren J Carss; Lucy Raymond; Manju A Kurian; Christine Klein; Victor S C Fung
Journal:  Mov Disord       Date:  2016-04-08       Impact factor: 10.338
  5 in total
  1 in total

1.  Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.

Authors:  Huijie Feng; Benita Sjögren; Behirda Karaj; Vincent Shaw; Aysegul Gezer; Richard R Neubig
Journal:  Neurology       Date:  2017-07-26       Impact factor: 9.910
  1 in total

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