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4,257 results

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Page 1
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S. Lawlor MW, et al. Among authors: prasad s. EBioMedicine. 2024 Jan;99:104894. doi: 10.1016/j.ebiom.2023.104894. Epub 2023 Dec 12. EBioMedicine. 2024. PMID: 38086156 Free PMC article.
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB; INCEPTUS investigators. Dowling JJ, et al. Among authors: prasad s. J Neuromuscul Dis. 2022;9(4):503-516. doi: 10.3233/JND-210781. J Neuromuscul Dis. 2022. PMID: 35694931 Free PMC article.
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial.
Shieh PB, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Servais L, Smith BK, Muntoni F, Blaschek A, Foley AR, Saade DN, Neuhaus S, Alfano LN, Beggs AH, Buj-Bello A, Childers MK, Duong T, Graham RJ, Jain M, Coats J, MacBean V, James ES, Lee J, Mavilio F, Miller W, Varfaj F, Murtagh M, Han C, Noursalehi M, Lawlor MW, Prasad S, Rico S. Shieh PB, et al. Among authors: prasad s. Lancet Neurol. 2023 Dec;22(12):1125-1139. doi: 10.1016/S1474-4422(23)00313-7. Lancet Neurol. 2023. PMID: 37977713 Free article. Clinical Trial.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Camp KM, et al. Among authors: prasad s. Mol Genet Metab. 2014 Jun;112(2):87-122. doi: 10.1016/j.ymgme.2014.02.013. Epub 2014 Mar 6. Mol Genet Metab. 2014. PMID: 24667081
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J 3rd, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S. Burton B, et al. Among authors: prasad s. Mol Genet Metab. 2015 Mar;114(3):415-24. doi: 10.1016/j.ymgme.2014.11.011. Epub 2014 Nov 26. Mol Genet Metab. 2015. PMID: 25533024 Free article. Clinical Trial.
Recommendations for the use of sapropterin in phenylketonuria.
Cunningham A, Bausell H, Brown M, Chapman M, DeFouw K, Ernst S, McClure J, McCune H, O'Steen D, Pender A, Skrabal J, Wessel A, Jurecki E, Shediac R, Prasad S, Gillis J, Cederbaum S. Cunningham A, et al. Among authors: prasad s. Mol Genet Metab. 2012 Jul;106(3):269-76. doi: 10.1016/j.ymgme.2012.04.004. Epub 2012 Apr 13. Mol Genet Metab. 2012. PMID: 22575621 Free article. Clinical Trial.
4,257 results