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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: shieh pb. J Neuromuscul Dis. 2022;9(4):503-516. doi: 10.3233/JND-210781. J Neuromuscul Dis. 2022. PMID: 35694931 Free PMC article.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: shieh pb. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study.
Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, Ahmed R, Martinisi J, Kakkis E. Argov Z, et al. Among authors: shieh pb. J Neuromuscul Dis. 2016 Mar 3;3(1):49-66. doi: 10.3233/JND-159900. J Neuromuscul Dis. 2016. PMID: 27854209 Free PMC article. Clinical Trial.
Natural history of infantile-onset spinal muscular atrophy.
Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators. Kolb SJ, et al. Among authors: shieh pb. Ann Neurol. 2017 Dec;82(6):883-891. doi: 10.1002/ana.25101. Epub 2017 Dec 8. Ann Neurol. 2017. PMID: 29149772 Free PMC article.
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2.
Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. Glascock J, et al. Among authors: shieh pb. J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468. J Neuromuscul Dis. 2020. PMID: 32007960 Free PMC article. No abstract available.
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.
Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Shieh PB, Tizzano E, Desguerre I, Quijano-Roy S, Saito K, Droege M, Dabbous O, Khan F, Renault L, Anderson FA, Servais L. Finkel RS, et al. Among authors: shieh pb. J Neuromuscul Dis. 2020;7(2):145-152. doi: 10.3233/JND-190451. J Neuromuscul Dis. 2020. PMID: 32039859 Free PMC article.
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.
Rudnicki SA, Andrews JA, Duong T, Cockroft BM, Malik FI, Meng L, Wei J, Wolff AA, Genge A, Johnson NE, Tesi-Rocha C, Connolly AM, Darras BT, Felice K, Finkel RS, Shieh PB, Mah JK, Statland J, Campbell C, Habib AA, Kuntz NL, Oskoui M, Day JW. Rudnicki SA, et al. Among authors: shieh pb. Neurotherapeutics. 2021 Apr;18(2):1127-1136. doi: 10.1007/s13311-020-01004-3. Epub 2021 Feb 23. Neurotherapeutics. 2021. PMID: 33624184 Free PMC article. Clinical Trial.
98 results