Search Results - "Rothermel, Caroline"

GM1 gangliosidosis type II: Results of a 10-year prospective study by D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, Tifft, Cynthia J.

“…GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved…”
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Loss of the glycosyltransferase Galnt11 affects vitamin D homeostasis and bone composition by Tian, E., Rothermel, Caroline, Michel, Zachary, de Castro, Luis Fernandez, Lee, Jeeyoung, Kilts, Tina, Kent, Tristan, Collins, Michael T., Ten Hagen, Kelly G.

“…O-glycosylation is a conserved posttranslational modification that impacts many aspects of organismal viability and function. Recent studies examining the…”
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eP259: A phase 1/2 trial of AXO-AAV-GM1 gene therapy for the treatment of infantile- and juvenile-onset GM1 gangliosidosis by Tift, Cynthia, D'Souza, Precilla, Johnston, Jean, Acosta, Maria, Nicoli, Elena-Raluca, Rothermel, Caroline, Thurm, Audrey, Karunakara, Ajith, Thorp, Benjamin, Ross, Peter, Jameson, John, Sheehan, Michael, Vaughn, Toby, Valencia, Donna, De Boever, Erika

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Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis by Tifft, Cynthia, D’Souza, Precilla, Johnston, Jean M., Acosta, Maria T., Nicoli, Elena-Raluca, Rothermel, Caroline, Thurm, Audrey, Karunakara, Ajith, Thorp, Benjamin, Ross, Peter, Jameson, John, Sheehan, Michael, Vaughn, Toby, Valencia, Donna, De Boever, Erika, Corcoran, Gavin

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