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Paper Details

Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
Neuropathology
2
2022
Biallelic, Friedreich's ataxia, POLR3A, POLR3A protein, POLR3A-related neurodegenerative disease, Spinal cord-predominant neuropathology, adolescent-to-adult-onset, c.1909 + 22G, degeneration of the posterior columns, hypomyelinating leukodystrophies, hypomyelinating leukodystrophy, intronic variant, man, spastic ataxia, white matter pathology
Author NameAffiliation
Dong-Hui ChenUniversity of Washington School of Medicine
Michael O DorschnerUniversity of Washington School of Medicine
Michael O DorschnerUniversity of Washington School of Medicine
Suman JayadevUniversity of Washington School of Medicine
Suman JayadevUniversity of Washington School of Medicine
Suman JayadevUniversity of Washington School of Medicine
Christopher Dirk KeeneUniversity of Washington School of Medicine
Thomas D BirdUniversity of Washington School of Medicine
Thomas D BirdUniversity of Washington School of Medicine
Thomas D BirdGeriatric Research Education and Clinical Center
Caitlin S LatimerUniversity of Washington School of Medicine
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Release 1.2