Prasanthi Karna
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View article: Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5‐Dyskinesia Open
Background Adenylate cyclase 5 (ADCY5)‐related dyskinesia is a childhood‐onset movement disorder. Manifestations vary in frequency and severity and may include chorea, tremor, dystonia, facial twitches, myoclonus, axial hypotonia, and limb…
View article: An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in <i>GJB1</i> and its clinical features
An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in <i>GJB1</i> and its clinical features Open
Introduction : Mutations in gap junction protein beta 1 ( GJB1 ) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3′ untranslated region mutation (UTR) …