Associated Papers
Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.
Guo Y et al.
American Journal of Medical Genetics. Part A, 2022
Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.
Vafaee-Shahi M et al.
Current Journal of Neurology, 2020
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
Boizot A et al.
Acta Neuropathologica Communications, 2014
Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
Akagi M et al.
Brain & Development, 2012
Identification of seven novel mutations in the GAN gene.
Bomont P et al.
Human Mutation, 2003
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