Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

World journal of pediatrics : WJP - 1 Jun 2018

Normendez-Martínez Monica Irad, Monterde-Cruz Lucero, Martínez Roberto, Marquez-Harper Magdalena, Esquitin-Garduño Nayelli, Valdes-Flores Margarita, Casas-Avila Leonora, de Leon-Suarez Valeria Ponce, Romero-Díaz Viktor Javier, Hidalgo-Bravo Alberto

Abstract excerpt

BACKGROUND: Giant axonal neuropathy (GAN) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. This disorder presents motor and sensitive symptoms with an onset in early childhood. Progressive neurodegeneration makes the patients wheelchair dependent by the end of the second decade of life. Affected individuals do not survive beyond the third decade of life. Molecular analysis has...

Topics

Join the communities discussing this publication.

Biopsy, Needle
Cytoskeletal Proteins
Disease Progression
Electromyography
Mexico

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Risk Assessment

Source

Identifiers

PMID: 29876741
DOI: 10.1007/s12519-018-0140-z

Genes

GAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations in the GAN gene causing giant axonal neuropathy.PMID 29876741Read ↗

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.Semantic proximity Read ↗

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

Identification of seven novel mutations in the GAN gene.Semantic proximity Read ↗

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).Semantic proximity Read ↗

Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.Semantic proximity Read ↗

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).Semantic proximity Read ↗

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

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

Giant axonal neuropathy (GAN): Case report and two novel mutations in the gigaxonin geneSemantic proximity Read ↗

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

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

Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.