Genetics of Spinal Muscular Atrophy
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Publisher
Elsevier
Reference87 articles.
1. Non-5q spinal muscular atrophies the alphanumeric soup thickens;Darras;Neurology,2011
2. A calm before the exome storm: coming together of dSMA and CMT2;Hoffman;Neurology,2012
3. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy;Neveling;Am J Hum Genet,2013
4. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia;Oates;Am J Hum Genet,2013
5. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance;Peeters;Am J Hum Genet,2013
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy;Annals of Clinical and Translational Neurology;2024-05-31
2. Single-Tube Multiplex Digital Polymerase Chain Reaction Assay for Molecular Diagnosis and Prediction of Severity of Spinal Muscular Atrophy;Analytical Chemistry;2022-02-09
3. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue;Nature Medicine;2021-10
4. Conditional deletion of SMN in cell culture identifies functional SMN alleles;Human Molecular Genetics;2020-10-19
5. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype;Human Genetics;2019-02-20
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