Associated Papers
Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.
Villa-Lopez M et al.
Parkinsonism & Related Disorders, 2025
First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.
Villa-Lopez M et al.
Parkinsonism & Related Disorders, 2025
Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report.
Siavashani ES et al.
Bmc Medical Genomics, 2023
BNIP-H Recruits the Cholinergic Machinery to Neurite Terminals to Promote Acetylcholine Signaling and Neuritogenesis.
Sun J et al.
Developmental Cell, 2015
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Brain-specific BNIP-2-homology protein Caytaxin relocalises glutaminase to neurite terminals and reduces glutamate levels.
Buschdorf JP et al.
Journal of Cell Science, 2006
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