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September 26, 2017Neurology GeneticsOpen Access

Autosomal recessive inheritance of ADCY5 -related generalized dystonia and myoclonus

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Authors

MBMatthew J. BarrettVirginia Commonwealth UniversityEWEli S. WilliamsUniversity of VirginiaCCChelsea ChambersUniversity of the Sciences

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Barrett et al. (2017) studied this question.

synapsesocial.com/papers/6ab5bcf8697b01951e4484bchttps://doi.org/10.1212/nxg.0000000000000193
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Autosomal Dominant Familial Dyskinesia and Facial Myokymia2012 · 128 citations
  2. 2Homozygous THAP1 mutations as cause of early‐onset generalized dystonia2011 · 38 citations
  3. 3<i>ADCY5</i> mutations are another cause of benign hereditary chorea2015 · 94 citations
  4. 4<i>ADCY5</i> -related dyskinesia2015 · 121 citations
  5. 5Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia2014 · 124 citations