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
Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time.
Cavaloiu B et al.
Biomedicines, 2024
Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.
Haque US et al.
Genes, 2024
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.
Akhkiamova M et al.
Genes, 2024
Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia.
Brkušanin M et al.
Frontiers in Neurology, 2024
SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts.
Cook SL et al.
Frontiers in Genetics, 2024
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
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
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
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
Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.
McGovern VL et al.
Human Molecular Genetics, 2020
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.
Wirth B et al.
Annual Review of Genomics and Human Genetics, 2020
Spinal muscular atrophy - new therapies, new challenges.
Jędrzejowska M et al.
Neurologia I Neurochirurgia Polska, 2020
Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.
Wadman RI et al.
Brain Communications, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.
Iyer CC et al.
Human Molecular Genetics, 2018
Drosophila as a Model for Assessing the Function of RNA-Binding Proteins during Neurogenesis and Neurological Disease.
Olesnicky EC et al.
Journal of Developmental Biology, 2018
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
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
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
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
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
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
[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
Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.
Fuentes JL et al.
Plos One, 2010
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
Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.
Rossoll W et al.
Results and Problems in Cell Differentiation, 2009
The SMN binding protein Gemin2 is not involved in motor axon outgrowth.
McWhorter ML et al.
Developmental Neurobiology, 2008
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