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: cross-sectional analysis of a large natural history cohort.
Bharucha-Goebel DX et al.
Brain : a Journal of Neurology, 2021
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
E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.
Lescouzères L et al.
Frontiers in Physiology, 2020
33192535 (PubMed )
Supplement: Table_1.pdf
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.
Abu-Rashid M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
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