Associated Papers
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.
Lin LL et al.
Npj Genomic Medicine, 2025
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Mikhalchuk K et al.
Clinical Genetics, 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
Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region.
Hassan R et al.
Bmc Medical Genomics, 2024
Dissecting the role of SMN multimerization in its dissociation from the Cajal body using harmine as a tool compound.
Ohazama S et al.
Journal of Cell Science, 2024
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.
Akhkiamova M et al.
Genes, 2024
270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Abiusi E et al.
Neuromuscular Disorders : Nmd, 2024
Current Advances in Genetic Testing for Spinal Muscular Atrophy.
Zhou Y et al.
Current Genomics, 2023
Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments.
Musawi S et al.
Nature Communications, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S et al.
Journal of Neuromuscular Diseases, 2023
Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.
Miller CR et al.
Human Mutation, 2023
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Dai M et al.
Molecular Genetics and Genomics : Mgg, 2022
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Niba ETE et al.
Genes, 2022
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F et al.
Scientific Reports, 2021
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex.
Veepaschit J et al.
Nucleic Acids Research, 2021
Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer.
Gupta K et al.
Nucleic Acids Research, 2021
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.
Blasco-Pérez L et al.
Human Mutation, 2021
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
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Keinath MC et al.
The Application of Clinical Genetics, 2021
SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.
Bowen BM et al.
Frontiers in Neurology, 2021
Conditional deletion of SMN in cell culture identifies functional SMN alleles.
Blatnik AJ et al.
Human Molecular Genetics, 2020
Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction.
Hong JM et al.
Chinese Medical Journal, 2020
Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.
Xu Y et al.
Neuromuscular Disorders : Nmd, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Severe brain involvement in 5q spinal muscular atrophy type 0.
Mendonça RH et al.
Annals of Neurology, 2019
Comprehensive Modeling of Spinal Muscular Atrophy in Drosophila melanogaster.
Spring AM et al.
Frontiers in Molecular Neuroscience, 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
Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates.
Maretina MA et al.
Current Genomics, 2018
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Li W
Plos One, 2017
Applicability of digital PCR to the investigation of pediatric-onset genetic disorders.
Butchbach ME
Biomolecular Detection and Quantification, 2016
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
Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene.
Yamada H et al.
No to Hattatsu = Brain and Development, 2016
SMN and coilin negatively regulate dyskerin association with telomerase RNA.
Poole AR et al.
Biology Open, 2016
Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.
Prior TW et al.
Current Protocols in Human Genetics, 2016
Tongue fasciculations in an infant with spinal muscular atrophy type 1.
Giannopoulou EZ et al.
Clinical Case Reports, 2015
Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T et al.
Brain & Development, 2014
SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila.
Praveen K et al.
Plos Genetics, 2014
Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.
Jędrzejowska M et al.
Neuromuscular Disorders : Nmd, 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
The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein.
Kwon DY et al.
Molecular Biology of the Cell, 2013
Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.
He J et al.
Gene, 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
A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.
Praveen K et al.
Cell Reports, 2012
Quantitative and sensitive detection of rare mutations using droplet-based microfluidics.
Pekin D et al.
Lab on a Chip, 2011