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: 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: a rare inherited neuropathy with simple clinical clues.
Kamate M et al.
Bmj Case Reports, 2014
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
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation.
Mahammad S et al.
The Journal of Clinical Investigation, 2013
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
Phenotypic variability in giant axonal neuropathy.
Tazir M et al.
Neuromuscular Disorders : Nmd, 2009
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Bruno C et al.
Neurology, 2004
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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