Search Results - "Rockowitz, S."

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  1. 1

    473P Using RNAseq analysis in a cohort of undiagnosed congenital myopathy patients by Barraza-Flores, P., Genetti, C., Shao, W., French, C., Rockowitz, S., Beggs, A.

    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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    Journal Article
  2. 2

    P421 Mitochondrial involvement in SELENON-Related Myopathy by Barraza, P., Moghadaszadeh, B., Lee, W., Isaac, B., Sun, L., Troiano, E., Rockowitz, S., Sliz, P., Beggs, A.

    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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    Journal Article
  3. 3

    Development of Patient-Specific Neurons in Schizophrenia Using Induced Pluripotent Stem Cells by Pedrosa, Erika, Sandler, Vladislav, Shah, Abhishek, Carroll, Reed, Chang, Chanjung, Rockowitz, Shira, Guo, Xingyi, Zheng, Deyou, Lachman, Herbert M.

    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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    Journal Article