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Article

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease

1 Mar 2002

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PMID: 11993528
DOI: 10.1007/s004150200007

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron diseasePMID 11993528Read ↗

Promoter analysis of the human centromeric and telomeric survival motor neuron genes (SMNC and SMNT)Semantic proximity Read ↗

Structure and Organization of the Human Survival Motor Neurone (SMN) GeneSemantic proximity Read ↗

SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.Semantic proximity Read ↗

Association between centromeric deletions of the SMN gene and sporadic adult‐onset lower motor neuron diseaseSemantic proximity Read ↗

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.Semantic proximity Read ↗

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.Semantic proximity Read ↗

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMNSemantic proximity Read ↗

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.Semantic proximity Read ↗

The c.859G>C variant in the <i>SMN2</i> gene is associated with types II and III SMA and originates from a common ancestorSemantic proximity Read ↗

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron proteinSemantic proximity Read ↗

Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of lifeSemantic proximity Read ↗

A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.Semantic proximity Read ↗

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