Discover Community Create You

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

Phenotypic variability in giant axonal neuropathy.

Neuromuscular disorders : NMD - 1 Apr 2009

Tazir Meriem, Nouioua Sonia, Magy Laurent, Huehne Kathrin, Assami Salima, Urtizberea Andoni, Grid Djamel, Hamadouche Tarik, Rautenstrauss Bernd, Vallat Jean-Michel

Abstract excerpt

Giant axonal neuropathy (GAN), a severe childhood disorder affecting both the peripheral nerves and the central nervous system, is due to mutations in the GAN gene encoding gigaxonin, a protein implicated in the cytoskeletal functions and dynamics. In the majority of the GAN series reported to date, patients had the classical clinical phenotype characterized by a severe axonal neuropathy with kinky hair and early...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Algeria
Share to Bone Diseases, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebellar Ataxia

Share to Gait Disorders, Neurologic

Share to Nerve Fibers, Myelinated

Share to Neural Pathways

Share to Peripheral Nervous System Diseases

Share to Pyramidal Tracts

Source

Identifiers

PMID: 19231187
DOI: 10.1016/j.nmd.2009.01.011

Genes

GAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic variability in giant axonal neuropathy.PMID 19231187Read ↗

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

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

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

Clinical and molecular findings 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 ↗

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.Semantic proximity Read ↗

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

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

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

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

Two novel mutations in the GAN gene causing giant axonal neuropathy.Semantic proximity Read ↗

Clinicogenetical features of a Japanese patient with giant axonal neuropathy.Semantic proximity Read ↗

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