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Joubert syndrome presenting bilateral peroneal neuropathies: A case report.

Hyeong-Min KimHyun-Seok JoJae-Young HanIn-Sung ChoiMin-Keun SongHyeng-Kyu Park
Published in: Medicine (2024)
This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.
Keyphrases
  • peripheral nerve
  • case report
  • high resolution
  • oxidative stress
  • white matter
  • resting state
  • case control
  • multiple sclerosis
  • functional connectivity
  • mass spectrometry
  • brain injury
  • blood brain barrier