Search Results - "Rockowitz, S."
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473P Using RNAseq analysis in a cohort of undiagnosed congenital myopathy patients
Published in Neuromuscular disorders : NMD (01-10-2024)“…Congenital myopathies (CM) are a group of clinically heterogenous disorders, defined by muscle histopathology, with overlapping genetic etiologies. With the…”
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P421 Mitochondrial involvement in SELENON-Related Myopathy
Published in Neuromuscular disorders : NMD (01-10-2023)“…SELENON-Related Myopathy (SELENON-RM) is caused by recessive mutations of the SELENON gene and is characterized by spinal and axial muscle weakness with…”
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Development of Patient-Specific Neurons in Schizophrenia Using Induced Pluripotent Stem Cells
Published in Journal of neurogenetics (01-10-2011)“…Induced pluripotent stem cell (iPSC) technology has the potential to transform regenerative medicine. It also offers a powerful tool for establishing in vitro…”
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