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t/gene-smn1

SMN1 gene

Discuss publications and research concerning the SMN1 gene.

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Related literature

Beyond SMN1 mutation: environmental predispositions and epigenetic contributors to phenotypic variability and disease severity in spinal muscular atrophy.
SMN1
Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.
SMN1
Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.
SMN1
Spinal muscular atrophy.
SMN1
[Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].
SMN1
Spinal muscular atrophy: A changing phenotype beyond the clinical trials.
SMN1
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
SMN1
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
SMN1
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study.
SMN1
Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene.
SMN1

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