Associated Papers
Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.
Hobara T et al.
Journal of Neurology, 2025
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
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
Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene.
Cai S et al.
Chinese Medical Journal, 2018
Two novel mutations in the GAN gene causing giant axonal neuropathy.
Normendez-Martínez MI et al.
World Journal of Pediatrics : Wjp, 2018
Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene.
Xu M et al.
Journal of Child Neurology, 2013
Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
Akagi M et al.
Brain & Development, 2012
Clinical and genetic studies in a Chinese family with giant axonal neuropathy.
Zhang LP et al.
Journal of Child Neurology, 2009
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O et al.
Neuromuscular Disorders : Nmd, 2007
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