Associated Papers
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Stringer BW et al.
Embo Molecular Medicine, 2026
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Mikhalchuk K et al.
Clinical Genetics, 2025
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.
Bai J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.
Zhang M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.
Qu YJ et al.
Mutation Research, 2017
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.
Qu YJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
[SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
Unknown Author
Genetika, 2015
Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.
Ganji H et al.
Journal of Child Neurology, 2015
[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].
Zhang W et al.
Zhonghua Yi Xue Za Zhi, 2015
Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.
Bai JL et al.
Genetic Testing and Molecular Biomarkers, 2014
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
Alías L et al.
Human Genetics, 2009
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Zapletalová E et al.
Neuromuscular Disorders : Nmd, 2007
Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
Sun Y et al.
Human Mutation, 2005
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Clermont O et al.
Human Mutation, 2004
Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.
Ogino S et al.
Human Mutation, 2004
Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S et al.
Expert Review of Molecular Diagnostics, 2004
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S et al.
Human Genetics, 2002
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
Skordis LA et al.
Human Genetics, 2001
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.
Wirth B et al.
American Journal of Human Genetics, 1999