Associated Papers
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.
Mir YR et al.
Molecular Biology Reports, 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
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A et al.
Neurogenetics, 2020
Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy.
Xu X et al.
Frontiers in Neuroscience, 2020
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
Clinicogenetical features of a Japanese patient with giant axonal neuropathy.
Akagi M et al.
Brain & Development, 2012
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
Cleveland DW et al.
Human Molecular Genetics, 2009
Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization.
Bomont P et al.
Human Molecular Genetics, 2003
Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.
Kuhlenbäumer G et al.
Neurology, 2002
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.
Bomont P et al.
Nature Genetics, 2000
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