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 of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.

Journal of neurology - 1 Dec 2017

Sun Yi-Min, Dong Yi, Wang Jian, Lu Jia-Hong, Chen Yan, Wu Jian-Jun

Abstract excerpt

The mutation of vesicle-associated membrane protein-associated protein B (VAPB) was proved to cause family amyotrophic lateral sclerosis (FALS). Only two mutations of VAPB associated with ALS have been reported (p.Pro56Ser and p.Thr46Ile). Here we reported a Chinese Han FALS family caused by a novel VAPB point mutation. The clinical materials of one Chinese Han FALS family were collected. The genetic analysis was...

Read the complete abstract on PubMed

Topics

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

Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electromyography

Share to Family Health

Share to Genetic Testing

Share to Histidine

Share to Proline

Share to Vesicular Transport Proteins

Source

Identifiers

PMID: 28993872
DOI: 10.1007/s00415-017-8628-3

Genes

VAPB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.PMID 28993872Read ↗

Characterization of the amyotrophic lateral sclerosis-linked P56S mutation of the VAPB gene in Southern Brazil.Semantic proximity Read ↗

[Association between VAPB mutations and familial amyotrophic lateral sclerosis in Chinese patients].Semantic proximity Read ↗

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosisSemantic proximity Read ↗

A VAPB (P56S) mutation in a Dutch patient with familial motor neuron disease: a case report.Semantic proximity Read ↗

Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation.Semantic proximity Read ↗

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.Semantic proximity Read ↗

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral SclerosisSemantic proximity Read ↗

Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil.Semantic proximity Read ↗

Peripheral nerve pathology in VAPB-associated amyotrophic lateral sclerosis with dysautonomia in a Chinese family.Semantic proximity Read ↗

First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

The Link between VAPB Loss of Function and Amyotrophic Lateral Sclerosis.Semantic proximity Read ↗

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.Semantic proximity Read ↗

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