Literature DB >> 26686870

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

Jennifer R Friedman1, Aurélie Méneret2,3, Dong-Hui Chen4, Oriane Trouillard2, Marie Vidailhet2,3, Wendy H Raskind5,6, Emmanuel Roze2,3.   

Abstract

Entities:  

Keywords:  dyskinesia; dystonia; genetics; paroxysmal movement disorders; sleep

Mesh：

Substances：

Year:  2015        PMID： 26686870      PMCID： PMC4724296          DOI： 10.1002/mds.26494

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


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  6 in total

1.  Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

Authors:  Catherine A McWilliam; Cheryl K Ridout; Ruth M Brown; Robert C McWilliam; John Tolmie; Garry K Brown
Journal:  Eur J Paediatr Neurol       Date:  2009-12-21       Impact factor: 3.140

Review 2.  Paroxysmal movement disorders.

Authors:  Olga Waln; Joseph Jankovic
Journal:  Neurol Clin       Date:  2015-02       Impact factor: 3.806

3.  Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

Authors:  Marion Delcourt; Florence Riant; Josette Mancini; Mathieu Milh; Vincent Navarro; Emmanuel Roze; Véronique Humbertclaude; Christian Korff; Vincent Des Portes; Pierre Szepetowski; Diane Doummar; Bernard Echenne; Samuel Quintin; Nicolas Leboucq; Rabbind Singh Amrathlal; Jacques Rochette; Agathe Roubertie
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-01-16       Impact factor: 10.154

4.  Paroxysmal dyskinesias: clinical features and classification.

Authors:  M Demirkiran; J Jankovic
Journal:  Ann Neurol       Date:  1995-10       Impact factor: 10.422

5.  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 6.  Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.

Authors:  Roberto Erro; Una-Marie Sheerin; Kailash P Bhatia
Journal:  Mov Disord       Date:  2014-06-25       Impact factor: 10.338
  6 in total
  19 in total

Review 1.  Genetic Dystonias: Update on Classification and New Genetic Discoveries.

Authors:  Ignacio Juan Keller Sarmiento; Niccolò Emanuele Mencacci
Journal:  Curr Neurol Neurosci Rep       Date:  2021-02-09       Impact factor: 5.081

2.  Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy.

Authors:  Serena Galosi; Luca Pollini; Francesca Nardecchia; Elena Cellini; Renzo Guerrini; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2022-09-11

Review 3.  Recent advances in genetics of chorea.

Authors:  Niccolò E Mencacci; Miryam Carecchio
Journal:  Curr Opin Neurol       Date:  2016-08       Impact factor: 5.710

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

Authors:  Wendy H Raskind; Jennifer R Friedman; Emmanuel Roze; Aurélie Méneret; Dong-Hui Chen; Thomas D Bird
Journal:  Mov Disord       Date:  2016-12-09       Impact factor: 10.338

5.  Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal Movements.

Authors:  Aurélie Méneret; Emmanuel Roze; Jean-Baptiste Maranci; Pauline Dodet; Diane Doummar; Florence Riant; Christine Tranchant; Valérie Fraix; Mathieu Anheim; Asya Ekmen; Eavan McGovern; Marie Vidailhet; Isabelle Arnulf; Smaranda Leu-Semenescu
Journal:  J Clin Sleep Med       Date:  2019-07-15       Impact factor: 4.062

Review 6.  Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.

Authors:  Federica Rachele Danti; Federica Invernizzi; Isabella Moroni; Barbara Garavaglia; Nardo Nardocci; Giovanna Zorzi
Journal:  Front Neurol       Date:  2021-06-01       Impact factor: 4.003

Review 7.  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

Review 8.  Physiological roles of mammalian transmembrane adenylyl cyclase isoforms.

Authors:  Katrina F Ostrom; Justin E LaVigne; Tarsis F Brust; Roland Seifert; Carmen W Dessauer; Val J Watts; Rennolds S Ostrom
Journal:  Physiol Rev       Date:  2021-10-26       Impact factor: 37.312

Review 9.  Paroxysmal Movement Disorders.

Authors:  Susan Harvey; Mary D King; Kathleen M Gorman
Journal:  Front Neurol       Date:  2021-06-11       Impact factor: 4.003

10.  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
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