Literature DB >> 34919601

Long-Term Follow-Up and Evolution of ADCY5-From a Ballistic to Dystonic Phenotype.

Gurusidheshwar M Wali1, Gautam Wali2,3, Kishore R Kumar2,3,4,5,6, Carolyn M Sue2,3,4.   

Abstract

Entities:  

Year:  2020        PMID: 34919601      PMCID: PMC7604667          DOI: 10.1002/mdc3.13069

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


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  5 in total

1.  Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Authors:  Kishore R Kumar; Ryan L Davis; Michel C Tchan; G M Wali; Neil Mahant; Karl Ng; Katya Kotschet; Sue-Faye Siow; Jason Gu; Zachary Walls; Ce Kang; Gautam Wali; Stan Levy; Chung Sen Phua; Con Yiannikas; Paul Darveniza; Florence C F Chang; Hugo Morales-Briceño; Dominic B Rowe; Alex Drew; Velimir Gayevskiy; Mark J Cowley; Andre E Minoche; Stephen Tisch; Michael Hayes; Sarah Kummerfeld; Victor S C Fung; Carolyn M Sue
Journal:  Parkinsonism Relat Disord       Date:  2019-11-07       Impact factor: 4.891

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

Review 3.  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

4.  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.  ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.

Authors:  Miryam Carecchio; Niccolò E Mencacci; Alessandro Iodice; Roser Pons; Celeste Panteghini; Giovanna Zorzi; Federica Zibordi; Anastasios Bonakis; Argyris Dinopoulos; Joseph Jankovic; Leonidas Stefanis; Kailash P Bhatia; Valentina Monti; Lea R'Bibo; Liana Veneziano; Barbara Garavaglia; Carlo Fusco; Nicholas Wood; Maria Stamelou; Nardo Nardocci
Journal:  Parkinsonism Relat Disord       Date:  2017-05-10       Impact factor: 4.891

  5 in total

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