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

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

(2016) Niccolò E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy

(2016) Christine P. Diggle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuromelanin Imaging and Dopaminergic Loss in Parkinson's Disease

(2016) Ioannis U. Isaias et al.   Frontiers in Aging Neuroscience

Principal Component Analysis of Multimodal Neuromelanin MRI and Dopamine Transporter PET Data Provides a Specific Metric for the Nigral Dopaminergic Neuronal Density

(2016) Hiroshi Kawaguchi et al.   PLoS One

ADCY5mutations are another cause of benign hereditary chorea

(2015) Niccolo E. Mencacci et al.   NEUROLOGY

Autosomal Dominant Familial Dyskinesia and Facial Myokymia

(2012) Ying-Zhang Chen   ARCHIVES OF NEUROLOGY

T1-Weighted MRI shows stage-dependent substantia nigra signal loss in Parkinson's disease

(2011) Stefan T. Schwarz et al.   MOVEMENT DISORDERS

Adenylyl Cyclase Type 5 Contributes to Corticostriatal Plasticity and Striatum-Dependent Learning

(2009) M. A. Kheirbek et al.   JOURNAL OF NEUROSCIENCE

Distinct Roles of PDE4 and PDE10A in the Regulation of cAMP/PKA Signaling in the Striatum

(2008) A. Nishi et al.   JOURNAL OF NEUROSCIENCE