Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (POLG). We modeled a novel POLG ...
An 82-year-old man presented to the emergency department with a two-week history of imbalance and gait disturbance resulting in a fall 10 days before presentation. There was no head injury. He ...
Multiple system atrophy is a rare, progressive neurodegenerative condition for which there is currently no cure. Multiple system atrophy (MSA) is a progressive neurodegenerative disorder with an ...
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