Childhood-Onset Giant Axonal Neuropathy: A Clinicopathological Case Report.

Disease mutation in gigaxonin-E3 ligase recapitulates giant axonal neuropathy in mice.

O-GlcNAcylation: A molecular switch linking brain health to neurodegeneration.

T2 Hyperintensities in Gracile Tracts of Cervical Spinal Cord in Giant Axonal Neuropathy (GAN).

The Kelch 3 motif on gigaxonin mediates the interaction with NUDCD3 and regulates vimentin filament morphology.

Charcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.

Neurofilament accumulation disrupts autophagy in giant axonal neuropathy.

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.

Hair Changes in Giant Axonal Neuropathy.

Giant axonal neuropathy: a rare inherited neuropathy with a novel mutation.

Molecular mechanisms of neurofilament alterations and its application in assessing neurodegenerative disorders.

Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteins.

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Immune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Intrathecal Gene Therapy for Giant Axonal Neuropathy.

Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations.

O-GlcNAcylation and Its Roles in Neurodegenerative Diseases.

The CRL3gigaxonin ubiquitin ligase-USP15 pathway governs the destruction of neurofilament proteins.

Intermediate filament dysregulation in astrocytes in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).

[Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation].

Axonal Transport Defect in Gigaxonin Deficiency Rescued by Tubastatin A.

A multilevel screening pipeline in zebrafish identifies therapeutic drugs for GAN.

A New Mouse Model of Giant Axonal Neuropathy with Overt Phenotypes and Neurodegeneration Driven by Neurofilament Disorganization.

Gigaxonin is required for intermediate filament transport.

Intermediate filament dysregulation and astrocytopathy in the human disease model of KLHL16 mutation in giant axonal neuropathy (GAN).

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.

Genetic Approaches for the Treatment of Giant Axonal Neuropathy.

Evaluation of hair structural abnormalities in children with different neurological diseases.

Calpain-mediated proteolysis of vimentin filaments is augmented in giant axonal neuropathy fibroblasts exposed to hypotonic stress.

Development of a high-throughput tailored imaging method in zebrafish to understand and treat neuromuscular diseases.

Two novel pathogenic mutations of GAN gene identified in a chinese family with giant axonal neuropathy: a case report.

Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments.

Giant axonal neuropathy (GAN) in an 8-year-old girl caused by a homozygous pathogenic splicing variant in GAN gene.

Anesthetic Management of Children and Adolescents With Giant Axonal Neuropathy: A Large Case Series.

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease.

Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India.

Current Clinical Applications of In Vivo Gene Therapy with AAVs.

E3 Ubiquitin Ligases in Neurological Diseases: Focus on Gigaxonin and Autophagy.

Giant axonal neuropathy: The first Iranian case with a variation in the gigaxonin gene and a glance to the other cases.

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.

Orphan Peripheral Neuropathies.

Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy.

Identification of Novel Compound Heterozygous Mutations in the GAN Gene of a Chinese Patient Diagnosed With Giant Axonal Neuropathy.

Giant axonal neuropathy: A differential diagnosis of consideration.

Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment.

The rare Alus element-mediated chimerism of multiple de novo complex rearrangement sequences in GAN result in giant axonal neuropathy.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.

Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.

The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders.

Observation of novel COX20 mutations related to autosomal recessive axonal neuropathy and static encephalopathy.

Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens.

Giant Axonal Neuropathy: Clinical, Radiological, and Genetic Features.

A Review of Copy Number Variants in Inherited Neuropathies.

Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene.

Two novel mutations in the GAN gene causing giant axonal neuropathy.

Development of Intrathecal AAV9 Gene Therapy for Giant Axonal Neuropathy.

KLHL16 Degrades Epidermal Keratins.

AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials.

Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.

Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria.

Pili canaliculi as manifestation of giant axonal neuropathy.

Industrializing rare disease therapy discovery and development.

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

The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.

Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.

[Two novel pathogenic mutations of GAN gene identified in a patient with giant axonal neuropathy].

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

Degradation of the Intermediate Filament Family by Gigaxonin.

[Therapy for Charcot-Marie-Tooth Disease: From the Standpoint of Neurologists].

Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.

Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy.

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

Production of Recombinant Adeno-associated Virus Vectors Using Suspension HEK293 Cells and Continuous Harvest of Vector From the Culture Media for GMP FIX and FLT1 Clinical Vector.

A mild case of giant axonal neuropathy without central nervous system manifestation.

Giant axonal neuropathy-like disease in an Alexandrine parrot (Psittacula eupatria).

Neurofilament dynamics and involvement in neurological disorders.