Evidence That Mouse Brain Neuropathy Target Esterase Is a Lysophospholipase von Quistad, Gary B., Barlow, Carrolee, Winrow, Christopher J., Sparks, Susan E., Casida, John E.

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A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome von Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.

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Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study von Dimachkie, Mazen M, Kishnani, Priya S, Ivanescu, Cristina, Flore, Giulio, Gwaltney, Chad, van der Beek, Nadine A M E, Hamed, Alaa, An Haack, Kristina, Pollissard, Laurence, Baranowski, Eileen, Sparks, Susan E, DasMahapatra, Pronabesh

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Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort von Byrne, Barry J., Colan, Steven D., Kishnani, Priya S., Foster, Meredith C., Sparks, Susan E., Gibson, James B., An Haack, Kristina, Stockton, David W., Peña, Loren D. M., Hahn, Si Houn, Johnson, Judith, Tanpaiboon, Pranoot X., Leslie, Nancy D., Kronn, David, Hillman, Richard E., Wang, Raymond Y.

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease von Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn

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Cannabinoid CB1 receptor as a target for chlorpyrifos oxon and other organophosphorus pesticides von Quistad, Gary B., Nomura, Daniel K., Sparks, Susan E., Segall, Yoffi, Casida, John E.

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Selective Inhibitors of Fatty Acid Amide Hydrolase Relative to Neuropathy Target Esterase and Acetylcholinesterase: Toxicological Implications von Quistad, Gary B., Sparks, Susan E., Segall, Yoffi, Nomura, Daniel K., Casida, John E.

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Update on newborn screening von Sparks, Susan E

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Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients von Schreiber, John M, Lanham, Diane C, Trescher, William H, Sparks, Susan E, Wassif, Christopher A, Caffo, Brian S, Porter, Forbes D, Tierney, Elaine, Gropman, Andrea L, Ewen, Joshua B

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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort von Duong, Tina, Kishnani, Priya S, An Haack, Kristina, Foster, Meredith C, Gibson, James B, Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D, Peña, Loren D M, Sparks, Susan E, Stockton, David W, Tanpaiboon, Pranoot, Day, John W

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Eteplirsen for the treatment of Duchenne muscular dystrophy von Mendell, Jerry R., Rodino-Klapac, Louise R., Sahenk, Zarife, Roush, Kandice, Bird, Loren, Lowes, Linda P., Alfano, Lindsay, Gomez, Ann Maria, Lewis, Sarah, Kota, Janaiah, Malik, Vinod, Shontz, Kim, Walker, Christopher M., Flanigan, Kevin M., Corridore, Marco, Kean, John R., Allen, Hugh D., Shilling, Chris, Melia, Kathleen R., Sazani, Peter, Saoud, Jay B., Kaye, Edward M.

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Fatty Acid Amide Hydrolase Inhibition by Neurotoxic Organophosphorus Pesticides von Quistad, Gary B., Sparks, Susan E., Casida, John E.

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Hypoglycosylation of α-dystroglycan in patients with hereditary IBM due to GNE mutations von Huizing, Marjan, Rakocevic, Goran, Sparks, Susan E, Mamali, Ioanna, Shatunov, Alexey, Goldfarb, Lev, Krasnewich, Donna, Gahl, William A, Dalakas, Marinos C

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Congenital protein hypoglycosylation diseases von Sparks, Susan E

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Inherited disorders of glycosylation von Sparks, Susan E

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Congenital muscular dystrophies von Sparks, Susan E., Escolar, Diana M.

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Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy von Mendell, Jerry R., Goemans, Nathalie, Lowes, Linda P., Alfano, Lindsay N., Berry, Katherine, Shao, James, Kaye, Edward M., Mercuri, Eugenio

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Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy von Sparks, Susan E, Ciccone, Carla, Lalor, Molly, Orvisky, Eduard, Klootwijk, Riko, Savelkoul, Paul J, Dalakas, Marinos C, Krasnewich, Donna M, Gahl, William A, Huizing, Marjan

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Trisomy 9 mosaicism and XX sex reversal von Solomon, Benjamin D., Turner, Clesson E., Klugman, Darren, Sparks, Susan E.

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Hermansky–Pudlak syndrome in two African‐American brothers von Merideth, Melissa A., Vincent, Lisa M., Sparks, Susan E., Hess, Richard A., Manoli, Irini, O'Brien, Kevin J., Tsilou, Ekaterina, White, James G., Huizing, Marjan, Gahl, William A.

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