Associated Papers
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
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A et al.
Neurogenetics, 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
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
Aharoni S et al.
Bmc Medical Genetics, 2016
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.
Lowery J et al.
Molecular Biology of the Cell, 2016
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
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O et al.
Neuromuscular Disorders : Nmd, 2007
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