ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations

OBJECTIVE: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)–related dyskinesia and genotype–phenotype relationship. METHODS: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was con...

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Published in:Neurology
Main Authors: Chen, Dong-Hui, Méneret, Aurélie, Friedman, Jennifer R., Korvatska, Olena, Gad, Alona, Bonkowski, Emily S., Stessman, Holly A., Doummar, Diane, Mignot, Cyril, Anheim, Mathieu, Bernes, Saunder, Davis, Marie Y., Damon-Perrière, Nathalie, Degos, Bertrand, Grabli, David, Gras, Domitille, Hisama, Fuki M., Mackenzie, Katherine M., Swanson, Phillip D., Tranchant, Christine, Vidailhet, Marie, Winesett, Steven, Trouillard, Oriane, Amendola, Laura M., Dorschner, Michael O., Weiss, Michael, Eichler, Evan E., Torkamani, Ali, Roze, Emmanuel, Bird, Thomas D., Raskind, Wendy H.
Format: Artigo
Language:Inglês
Published: Lippincott Williams & Wilkins 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4676753/
https://ncbi.nlm.nih.gov/pubmed/26537056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002058
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