Associated Papers
TMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination.
Halford J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.
Yoneno S et al.
Journal of Human Genetics, 2024
Adult-onset Leukodystrophy due to TMEM63A Variant Presenting with Rapidly Progressive Dementia with Parkinsonism.
Garg D et al.
Annals of Indian Academy of Neurology, 0
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