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
Kelch-like proteins: Physiological functions and relationships with diseases.
Shi X et al.
Pharmacological Research, 2019
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
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
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.
Roth LA et al.
Neuromuscular Disorders : Nmd, 2014
Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
Akagi M et al.
Brain & Development, 2012
Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.
Ding J et al.
Human Molecular Genetics, 2006
Identification of seven novel mutations in the GAN gene.
Bomont P et al.
Human Mutation, 2003
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