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

Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.

Journal of the neurological sciences - 15 Sept 2001

Tsai C H, Jong Y J, Hu C J, Chen C M, Shih M C, Chang C P, Chang J G

Abstract excerpt

Mutations of the telomeric survival motor neuron gene (SMN1) are related to spinal muscular atrophy (SMA). However, no phenotype-genotype correlation has been observed since the SMN1 gene is lacking in the majority of patients affected with either the severe form (type I) or the milder forms (types II and III). Here, we analyze the SMN, NAIP and P44 genes in 132 Chinese SMA patients and their families. At least...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic AMP Response Element-Binding Protein
Share to Chimera

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

Share to Peptide Initiation Factors

Share to SMN Complex Proteins

Share to Spinal Muscular Atrophies of Childhood

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Share to Telomere

Source

Identifiers

PMID: 11574104
DOI: 10.1016/s0022-510x(01)00574-3

Genes

SMN1
NAIP
SMN2
AGT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.PMID 11574104Read ↗

Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy.Semantic proximity Read ↗

Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.Semantic proximity Read ↗

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.Semantic proximity Read ↗

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patientsSemantic proximity Read ↗

Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.Semantic proximity Read ↗

NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Semantic proximity Read ↗

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controlsSemantic proximity Read ↗

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.Semantic proximity Read ↗

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.Semantic proximity Read ↗

Establishment of a molecular diagnostic system for spinal muscular atrophy experience from a clinical laboratory in china.Semantic proximity Read ↗

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.Semantic proximity Read ↗

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.Semantic proximity Read ↗

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