Variants in exosc9 disrupt the rna exosome and result in cerebellar atrophy with spinal motor neuronopathy

HIGHLIGHTS

• who: David T. Burns from the Recruitment and Sample Collection Four unrelated affected individuals were included in this studyWritten informed consent for study procedures and photographs was obtained by a qualified investigator (protocol, approved by the National Institute of Neurological Disorders and Stroke, National Institutes of Health have published the Article: Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy, in the Journal: (JOURNAL)
• what: The authors report further insights into the pathomechanism of exosomal disease in human cells as well as in CRISPR/Cas9 and morpholino oligonucleotide . . .
  

   

  

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