Associated Papers
SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.
Wirth B et al.
American Journal of Human Genetics, 2026
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Gao S et al.
Orphanet Journal of Rare Diseases, 2025
Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.
Xing X et al.
The Analyst, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.
Qu Y et al.
Heliyon, 2024
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
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.
Nadal M et al.
Protein Science : a Publication of the Protein Society, 2023
Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.
Hu C et al.
Frontiers in Neurology, 2022
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.
Bai J et al.
Journal of Molecular Neuroscience : Mn, 2021
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
Lin Y et al.
Frontiers in Genetics, 2019
Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach.
Sneha P et al.
Metabolic Brain Disease, 2018
Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy.
Ahn EJ et al.
Journal of Clinical Neurology (seoul, Korea), 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
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.
Qu YJ et al.
European Journal of Human Genetics : Ejhg, 2016
[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
Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Liu WL et al.
Genetics and Molecular Research : Gmr, 2013
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
Kirwin SM et al.
Molecular Genetics & Genomic Medicine, 2013
Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.
Yu-Jin Q et al.
Bmc Medical Genetics, 2012
Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.
Thauvin-Robinet C et al.
American Journal of Medical Genetics. Part A, 2012
[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
DU J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.
Qu YJ et al.
Chinese Medical Journal, 2011
[Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2010
False homozygous deletions of SMN1 exon 7 using Dra I PCR-RFLP caused by a novel mutation in spinal muscular atrophy.
Kang SH et al.
Genetic Testing and Molecular Biomarkers, 2009