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
E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.
Lescouzères L et al.
Frontiers in Physiology, 2020
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
30373780 (PubMed )
Supplement: bmjopen-2018-021632.draft_revisions.pdf
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.
Gopal RK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants
New genetic causes for complex hereditary spastic paraplegia.
Souza PVS et al.
Journal of the Neurological Sciences, 2017
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
Degradation of the Intermediate Filament Family by Gigaxonin.
Bomont P
Methods in Enzymology, 2016
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
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
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O et al.
Neuromuscular Disorders : Nmd, 2007
Identification of seven novel mutations in the GAN gene.
Bomont P et al.
Human Mutation, 2003
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