Published in Neuromuscul Disord on February 06, 2017
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature (2008) 12.21
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86
Short tandem repeat profiling provides an international reference standard for human cell lines. Proc Natl Acad Sci U S A (2001) 4.84
A novel nuclear structure containing the survival of motor neurons protein. EMBO J (1996) 4.72
The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis (1996) 3.71
Check your cultures! A list of cross-contaminated or misidentified cell lines. Int J Cancer (2010) 3.04
Cell line misidentification: the beginning of the end. Nat Rev Cancer (2010) 2.87
Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol (2006) 2.41
The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy. Mol Cell Biol (2005) 2.23
Structure and transcription of a human gene for H1 RNA, the RNA component of human RNase P. Nucleic Acids Res (1990) 2.18
Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR. Lab Chip (2011) 1.58
A resource for cell line authentication, annotation and quality control. Nature (2015) 1.53
High-throughput SNP-based authentication of human cell lines. Int J Cancer (2012) 1.46
Reproducibility: changing the policies and culture of cell line authentication. Nat Methods (2015) 1.43
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy. PLoS One (2012) 1.40
Recommendation of short tandem repeat profiling for authenticating human cell lines, stem cells, and tissues. In Vitro Cell Dev Biol Anim (2010) 1.35
Cell Biology. Fixing problems with cell lines. Science (2014) 1.30
Origin of the U87MG glioma cell line: Good news and bad news. Sci Transl Med (2016) 1.26
A highly discriminating octoplex short tandem repeat polymerase chain reaction system suitable for human individual identification. Electrophoresis (1995) 1.16
Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Assay Drug Dev Technol (2014) 1.13
Match criteria for human cell line authentication: where do we draw the line? Int J Cancer (2012) 1.10
Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy. J Med Chem (2008) 1.10
Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One (2012) 1.08
Short tandem repeat profiling: part of an overall strategy for reducing the frequency of cell misidentification. In Vitro Cell Dev Biol Anim (2010) 1.05
Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production. Glia (2013) 1.05
Cell-line authentication: End the scandal of false cell lines. Nature (2012) 1.05
A novel cell immunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol (2006) 1.00
Characterization and authentication of cancer cell lines: an overview. Methods Mol Biol (2011) 0.93
Human biosample authentication using the high-throughput, cost-effective SNPtrace(TM) system. PLoS One (2015) 0.87
Tissue identity testing of cancer by short tandem repeat polymorphism: pitfalls of interpretation in the presence of microsatellite instability. Hum Pathol (2013) 0.87
Standards for Cell Line Authentication and Beyond. PLoS Biol (2016) 0.87
Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Mol Genet Metab (2005) 0.86
Spinal Muscular Atrophy. Neurol Clin (2015) 0.86
SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR. Mol Genet Genomic Med (2015) 0.83
Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. Front Mol Biosci (2016) 0.83
Alzheimer disease fibroblasts are hypersensitive to the lethal effects of a DNA-damaging chemical. Mutat Res (1986) 0.79
Sensory neurons do not induce motor neuron loss in a human stem cell model of spinal muscular atrophy. PLoS One (2014) 0.79
Applicability of digital PCR to the investigation of pediatric-onset genetic disorders. Biomol Detect Quantif (2016) 0.77
Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Exp Neurol (2016) 0.78
Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons. Biochem Biophys Res Commun (2016) 0.75