Literature DB >> 35586523

ADCY5 Related Dyskinesia-A Rare Mutation.

Bandari Mahesh1, Varun Kumar Singh1, Abhishek Pathak1, Anand Kumar1, Rameshwar Nath Chaurasia1.   

Abstract

Entities:  

Keywords:  ADCY5; choreiform; dyskinesia; dystonia; mutation

Year:  2022        PMID： 35586523      PMCID： PMC9092730          DOI： 10.1002/mdc3.13419

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


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  8 in total

1.  Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.

Authors:  Marisela E Dy; Florence C F Chang; Sol De Jesus; Irina Anselm; Neil Mahant; Pamela Zeilman; Lance H Rodan; Kelly D Foote; Wen-Hann Tan; Emad Eskandar; Nutan Sharma; Michael S Okun; Victor S C Fung; Jeff L Waugh
Journal:  J Child Neurol       Date:  2016-04-06       Impact factor: 1.987

2.  Differential expression of type I, II, and V adenylyl cyclase gene in the postnatal developing rat brain.

Authors:  I Matsuoka; Y Suzuki; N Defer; H Nakanishi; J Hanoune
Journal:  J Neurochem       Date:  1997-02       Impact factor: 5.372

3.  Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.

Authors:  Aurélie Méneret; Domitille Gras; Eavan McGovern; Emmanuel Roze
Journal:  Ann Intern Med       Date:  2019-06-11       Impact factor: 25.391

4.  Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Authors:  Saeed A Bohlega; Hussam Abou-Al-Shaar; Amaal AlDakheel; Huda Alajlan; Balsam S Bohlega; Brian F Meyer; Dorota Monies; Edward J Cupler; Amr M Al-Saif
Journal:  Parkinsonism Relat Disord       Date:  2019-02-28       Impact factor: 4.891

5.  A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.

Authors:  Raphael Carapito; Nicodème Paul; Meiggie Untrau; Marion Le Gentil; Louise Ott; Ghada Alsaleh; Pierre Jochem; Mirjana Radosavljevic; Cédric Le Caignec; Albert David; Philippe Damier; Bertrand Isidor; Seiamak Bahram
Journal:  Mov Disord       Date:  2014-12-27       Impact factor: 10.338

6.  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

7.  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

8.  Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.

Authors:  Matthew J Barrett; Eli S Williams; Chelsea Chambers; Radhika Dhamija
Journal:  Neurol Genet       Date:  2017-09-25
  8 in total

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