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Article

Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis.

Journal of the neurological sciences - 1 Oct 1995

Orrell R W, King A W, Lane R J, de Belleroche J S

Abstract excerpt

Neurotrophic factors, such as ciliary neurotrophic factor (CNTF), have been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), a human neurodegenerative disease primarily of upper and lower motor neurones. A null mutation of the CNTF gene has recently been described. The mutation is an intronic point mutation (G to A) which generates a new splice acceptor site and a 4 bp insertion within the...

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Source

Identifiers

PMID: 8543936
DOI: 10.1016/0022-510x(95)00129-p

Genes

CNTF

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis.PMID 8543936Read ↗

[Deficiency of human ciliary neurotropic factor (CNTF) is not causally related to amyotrophic lateral sclerosis (ALS)].Semantic proximity Read ↗

A null mutation in the human CNTF gene is not causally related to neurological diseases.Semantic proximity Read ↗

Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.Semantic proximity Read ↗

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis.Semantic proximity Read ↗

A null mutation allele in the CNTF gene and schizophrenic psychoses.Semantic proximity Read ↗

Ciliary neurotrophic factor null allele frequencies in schizophrenia, affective disorders, and Alzheimer's disease.Semantic proximity Read ↗

Decrease in the ciliary neurotrophic factor of the spinal cord in amyotrophic lateral sclerosis.Semantic proximity Read ↗

Association of a null mutation in the CNTF gene with early onset of multiple sclerosis.Semantic proximity Read ↗

Association between a null mutation in the human ciliary neurotrophic factor (CNTF) gene and increased incidence of psychiatric diseases?Semantic proximity Read ↗

A null mutation within the ciliary neurotrophic factor (CNTF)-gene: implications for susceptibility and disease severity in patients with multiple sclerosis.Semantic proximity Read ↗

Schizophrenia and the ciliary neurotrophic factor (CNTF) gene: no evidence for association.Semantic proximity Read ↗

Ciliary neurotrophic factor (CNTF) genotypes: influence on choline acetyltransferase (ChAT) and acetylcholine esterase (AChE) activities and neurotrophin 3 (NT3) concentration in human post mortem brain tissue.Semantic proximity Read ↗

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