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

Clinical and genetic studies in a Chinese family with giant axonal neuropathy.

Journal of child neurology - 1 Dec 2009

Zhang Li-Ping, Zou Li-Ping

Abstract excerpt

The objective of the study was to investigate a girl with giant axonal neuropathy and detect the mutation of GAN gene in her family. The encoding exons of GAN gene were amplified from genomic DNA of the proband and her parents by polymerase chain reaction and directly sequenced after purification. The proband manifested typical neurological symptoms and pathological abnormalities. The case had 2 heterozygous...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Diseases
Share to Electrodiagnosis
Share to Electromyography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gait Disorders, Neurologic

Share to Nervous System

Share to Neural Conduction

Share to Peripheral Nerves

Share to Peripheral Nervous System Diseases

Source

Identifiers

PMID: 19295179
DOI: 10.1177/0883073809332703

Genes

GAN

Variants

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

Clinical and genetic studies in a Chinese family with giant axonal neuropathy.PMID 19295179Read ↗

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

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

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

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

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

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

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

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

Giant axonal neuropathy caused by compound heterozygosity for a maternally inherited microdeletion and a paternal mutation within the GAN gene.Semantic proximity Read ↗

Giant axonal neuropathy caused by a novel compound heterozygous mutation in the gigaxonin gene.Semantic proximity Read ↗

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

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

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