Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer

(2016) James J. Kang et al.   HUMAN GENETICS

Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy

(2015) Bethany L. Johnson-Kerner et al.   PLoS One

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

(2014) Alexia Boizot et al.   Acta Neuropathologica Communications

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

(2013) M. Abu-Rashid et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation

(2013) Saleemulla Mahammad et al.   JOURNAL OF CLINICAL INVESTIGATION

The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy

(2013) Lisa A. Roth et al.   NEUROMUSCULAR DISORDERS

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Phenotypic variability in giant axonal neuropathy

(2009) Meriem Tazir et al.   NEUROMUSCULAR DISORDERS