Associated Papers
Congenital immobility and stiffness related to biallelic ATAD1 variants.
Bunod R et al.
Neurology. Genetics, 2020
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Piard J et al.
Brain : a Journal of Neurology, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Ahrens-Nicklas RC et al.
Neurology. Genetics, 2017
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