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TranscriptomicsModeling the early phenotype at the neuromuscular junction of spinal muscular atrophy using patient-derived iPSCs
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. In the pathogenesis of SMA, pathological changes of the neuromuscular junction (NMJ) precede the motor neuronal loss. Therefore, it is critical to evaluate the NMJ formed by S...
ORGANISM(S): Homo sapiens 
2015-01-31 | E-GEOD-65470 | biostudies-arrayexpress
GenomicsIntegrated genetic and epigenetic analysis defines novel molecular clusters in rhabdomyosarcoma
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in childhood. To unravel the genetic/epigenetic basis of RMS, we studied 60 RMS cases using whole exome/transcriptome sequencing, copy number (CN) profiling, and DNA methylome analysis. Based on DNA methylation patterns, RMS was clustered...
EGAS00001000884 | EGA
GenomicsRMS_Infinium450K
Infinium 450K in Rhabdomyosarcoma
EGAD00010000897 | EGA
Genomicsena-DATASET-UT-Ped-15-12-2014-06:44:14:477-357 - samples
Whole-exome sequencing in 16 RMS cases Whole-transcriptome sequencing in 8 RMS cases
EGAD00001001105 | EGA
GenomicsDepartment of Pediatrics, The University of Tokyo Data Access Committee
Data Access Committee EGAC00001000207
EGAC00001000207 | EGA
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