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  1. ADCY5 mutations can cause benign hereditary chorea

  2. ADCY5 mutations are another cause of benign hereditary chorea

  3. Phenotypic insights into ADCY5-associated disease

  4. A meta-analysis of GWA blood glucose after 2 h of OGTT revealed that GIPR is associated...

  5. Phenotypic insights into ADCY5-associated disease

  6. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in...

  7. ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

    © 2019 International Parkinson and Movement Disorder Society Background: The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)-related disease has expanded considerably since the first description of the disorder in 1978 as familial essential

  8. PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology

    BACKGROUND: Striatal cyclic adenosine monophosphate activity modulates movement and is determined from the balance between its synthesis by adenylate cyclase 5 (ADCY5) and its degradation by phosphodiesterase 10A (PDE10A). OBJECTIVE: We assessed the

  9. Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related...

    OBJECTIVE: To characterise the distinctive eye movement disorder and the sleep-related dyskinesia in Adenylate cyclase 5 (ADCY5) related disease. METHODS: Formal eye movement examination and video-polysomnography in a cohort of patients with ADCY5

  10. An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.

    Adenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much remains to be understood about the underlying pathogenic mechanisms of the disease. ADCY5-related disease comprises a spectrum of hyperkinetic disorders

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