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

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.

Journal of neurology - 1 Sept 2007

Salmaggi Andrea, Botturi Andrea, Lamperti Elena, Grisoli Marina, Fischetto Rita, Ceccherini Isabella, Caroli Francesco, Boiardi Amerigo

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Alexander Disease
Share to Ataxia
Share to Electroencephalography
Share to Glial Fibrillary Acidic Protein

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Rare Diseases

Share to Seizures

Source

Identifiers

PMID: 17703343
DOI: 10.1007/s00415-006-0361-2

Genes

GFAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation in the GFAP gene in a familial adult onset Alexander disease.PMID 17703343Read ↗

A novel GFAP mutation in a type II (late-onset) Alexander disease patient.Semantic proximity Read ↗

Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP.Semantic proximity Read ↗

Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.Semantic proximity Read ↗

Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.Semantic proximity Read ↗

Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene.Semantic proximity Read ↗

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.Semantic proximity Read ↗

Adult-onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients.Semantic proximity Read ↗

Alexander disease: GFAP mutations unify young and old.Semantic proximity Read ↗

Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease.Semantic proximity Read ↗

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.Semantic proximity Read ↗

Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene.Semantic proximity Read ↗

Adult-onset Alexander disease : report on a family.Semantic proximity Read ↗

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