Associated Papers
Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.
Liénard C et al.
Acta Neuropathologica Communications, 2025
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
Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
Arribat Y et al.
The Journal of Clinical Investigation, 2019
Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy.
Bailey RM et al.
Molecular Therapy. Methods & Clinical Development, 2018
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
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.
Johnson-Kerner BL et al.
Human Molecular Genetics, 2015
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
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