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Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1. Neurology. 2026 Apr 14; 106(7):e214747. Leeuwenberg KE, Sansone VA, Hamel J, Hung M, Dekdebrun JM, Lizio A, Eichinger K, Gagnon C, Roxburgh RH, Subramony SH, Statland JM, Elsheikh BH, Turner C, Matthews EL, Ragole TE, Sampson JB, Schoser B, Takahashi MP, Wicklund MP, Swenson AJ, Laverty CG, Shieh PB, Greene EP, Raymond J, DeSpain E, Thornton CA, Mul K, Johnson NE, Myotonic Dystrophy Clinical Research Network. PMID: 41747205.
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Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy. Ann Neurol. 2026 Feb 22. Mul K, McDermott MP, Butterfield RJ, Elsheikh B, Eichinger K, Johnson NE, Leung DG, LoRusso S, Lewis L, Martens WB, Shieh PB, Wang LH, Walker M, Tawil R, Statland JM, ReSolve Investigators of the FSHD-CTRN. PMID: 41724900.
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Learnings from Patient Mortality after Delandistrogene Moxeparvovec Administration: A Report of Two Cases and Expert Committee Considerations for Future Mitigation and Management. Hum Gene Ther. 2026 Mar; 37(5-6):262-279. Shieh PB, Proud C, Diamond T, Chapin CA, Ahmad J, Salama AD, Bönnemann CG, Soslow J, Byrne BJ, Veerapandiyan A, Brandsema JF, Matesanz S, Samelson-Jones BJ, Wilkins BJ, Gerber M, Godwin Wild KE, Mason S, Asher D, McDonald CM, Mendell JR. PMID: 41681118.
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A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH study. J Neuromuscul Dis. 2026 Feb 06; 22143602261419558. Voermans NC, Statland JM, Hayward LJ, Rosenbohm A, López de Munain A, Sacconi S, Leung DG, Badrising UA, Vissing J, Schoser B, Muelas N, Lochmüller H, Bugiardini E, Wang LH, Maggi L, Ragole T, Pestronk A, Hamel JI, Goyal NA, Korngut L, Naddaf E, Harper A, Shieh PB, Kornblum C, Sansone V, Genge A, Tasca G, Jiang J, Jouvin MH, Tawil R, REACH Investigators. PMID: 41649965.
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Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry. J Neuromuscul Dis. 2025 Nov 11; 22143602251395173. Erbas Y, Servais L, Shieh PB, Goedeker NL, Waldrop MA, Bo R, Raju D, Benguerba K, Reyna SP, Wolff D, Finkel RS. PMID: 41217888.
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Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study. Ther Adv Rare Dis. 2025 Jan-Dec; 6:26330040251362885. Shieh PB, Hughes W, Wood M, Beggs AH, Lawlor MW, Coats J, Varfaj F, Graham RJ, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Buj Bello A, Servais L, MacBean V, Muntoni F, Foley AR, Blaschek A, James ES, Seferian A, Alfano LN, Duong T, Noursalehi M, Miller W, Lee J, Prasad S, Rico S. PMID: 40979471; PMCID: PMC12449642.
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Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy. Dev Med Child Neurol. 2026 Mar; 68(3):429-440. Schiava M, Dang UJ, Wood C, Wong SC, Ward LM, Lofra RM, Mayhew A, Martens WB, Gregory S, Griggs RC, Guglieri M, FOR-DMD Muscle Study Group. PMID: 40887311; PMCID: PMC12875185.
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Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2025 Sep; 54:106208. Wolff JM, Capocci N, Atas E, Bharucha-Goebel DX, Brandsema JF, Butterfield RJ, Chadwick CB, Corti M, Crawford TO, Cripe L, Day JW, Duong T, ElMallah MK, Flanigan KM, George LA, Goedeker NL, Goude E, Hesterlee S, Lin B, Katz NK, Matesanz SE, McDonald C, McNally EM, Mercado-Rodriguez C, Nandi D, Parsons JA, Proud C, Ramos-Platt L, Lek A, Salabarria SM, Camino E, Schrader R, Shea E, Shell R, Shieh PB, Soslow JH, Taylor JB, Veerapandiyan A, Villa C, Yang ML, Zaidman CM, Leon-Astudillo C, Byrne BJ. PMID: 41005046.
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Switching to subcutaneous zilucoplan from intravenous complement component 5 inhibitors in generalised myasthenia gravis: a phase IIIb, open-label study. Ther Adv Neurol Disord. 2025; 18:17562864251347283. Freimer M, Desai U, Govindarajan R, Kang MK, Khan S, Khatri B, Levine T, Macwan S, Shieh PB, Weiss MD, Bloemers J, Boroojerdi B, Delicha EM, Lavrov A, Singh P, Howard JF. PMID: 40620733; PMCID: PMC12228924.
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Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial. Mol Ther. 2025 Sep 03; 33(9):4216-4225. Sherlock SP, Levy DI, McIntosh A, Shieh PB, Smith EC, McDonnell TG, Ryan KA, Delnomdedieu M, Binks M, Lal AK, Butterfield RJ. PMID: 40583273; PMCID: PMC12432883.
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Complement activation in a phase Ib study of fordadistrogene movaparvovec for Duchenne muscular dystrophy. Mol Ther. 2025 Sep 03; 33(9):4226-4238. Byrne BJ, Butterfield RJ, Shieh PB, Smith EC, Licht C, Binks M, Casinghino S, Delnomdedieu M, Ravindra KC, McDonnell T, Ryan K, Schulz M, Shen Q, Shi H, Sirivelu MP, Vaidya VS, Whiteley L, Levy DI. PMID: 40583275; PMCID: PMC12432875.
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AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial. Nat Med. 2025 Aug; 31(8):2712-2721. Butterfield RJ, Shieh PB, Li H, Binks M, McDonnell TG, Ryan KA, Delnomdedieu M, Belluscio BA, Neelakantan S, Levy DI, Schwartz PF, Smith EC. PMID: 40579547; PMCID: PMC12353823.
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Effect of immunomodulatory agents on the response to COVID-19 vaccination among patients with neuromuscular diseases: A single center experience. Medicine (Baltimore). 2025 Feb 28; 104(9):e41606. Hsu J, Shieh PB. PMID: 40020121; PMCID: PMC11875606.
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Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2025 Mar; 48:105279. Wang LH, Hatch MN, McDermott MP, Martens WB, Eichinger K, Lewis L, Walker M, Leung DG, Wagner KR, Sacconi S, Mul K, Shieh PB, Elsheikh B, Butterfield RJ, Johnson NE, Sansone V, Han JJ, Tawil R, Statland JM, ReSolve Investigators of FSHD CTRN. PMID: 39978161; PMCID: PMC11911083.
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Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America. Orphanet J Rare Dis. 2024 Nov 26; 19(1):438. Rybalka E, Park HJ, Nalini A, Baskar D, Polavarapu K, Durmus H, Xia Y, Wan L, Shieh PB, Moghadaszadeh B, Beggs AH, Mack DL, Smith AST, Hanna-Rose W, Jinnah HA, Timpani CA, Shen M, Upadhyay J, Brault JJ, Hall MD, Baweja N, Kakkar P. PMID: 39593137; PMCID: PMC11590305.
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Healthcare Stakeholder Perspectives on a Value Assessment Approach for Duchenne Muscular Dystrophy Therapies. J Multidiscip Healthc. 2024; 17:4199-4212. Fischer R, Furlong P, Kennedy A, Maynard K, Penrod M, Miller D, Laverty CG, Lowes LP, Kuntz NL, Shieh PB, Kondejewski J, Neumann PJ, Shafrin J, Willke RJ. PMID: 39224484; PMCID: PMC11368110.
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Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial. Lancet Neurol. 2024 May; 23(5):477-486. Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. PMID: 38631764.
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Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology. 2024 Mar 12; 102(5):e208112. Dang UJ, Damsker JM, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlová J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL, Hoffman EP. PMID: 38335499; PMCID: PMC11067696.
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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. J Neurol Neurosurg Psychiatry. 2024 01 11; 95(2):103-113. Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A, Shieh PB, Foley AR, Jackson KE, Chao KR, Winder TL, Catapano F, Feng L, Kirschner J, Muntoni F, Dunn TM, Hornemann T, Bönnemann CG. PMID: 38041679; PMCID: PMC10850718.
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Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. J Neuromuscul Dis. 2024; 11(2):425-442. Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano EF, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA, Finkel RS. PMID: 38250783; PMCID: PMC10977451.
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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. EBioMedicine. 2024 Jan; 99:104894. 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. PMID: 38086156; PMCID: PMC10758703.
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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial. Lancet Neurol. 2023 12; 22(12):1125-1139. 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. PMID: 37977713.
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Safety and outcomes with efgartigimod use for acetylcholine receptor-positive generalized myasthenia gravis in clinical practice. Muscle Nerve. 2023 Nov; 68(5):762-766. Katyal N, Halldorsdottir K, Govindarajan R, Shieh P, Muley S, Reyes P, Leung KK, Mullen J, Milani-Nejad S, Korb M, Goyal NA, Mozaffar T, Goyal N, Habib AA, Muppidi S. PMID: 37695277.
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Expression of SRP-9001 dystrophin and stabilization of motor function up to 2 years post-treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy. Front Cell Dev Biol. 2023; 11:1167762. Mendell JR, Shieh PB, McDonald CM, Sahenk Z, Lehman KJ, Lowes LP, Reash NF, Iammarino MA, Alfano LN, Sabo B, Woods JD, Skura CL, Mao HC, Staudt LA, Griffin DA, Lewis S, Wang S, Potter RA, Singh T, Rodino-Klapac LR. PMID: 37497476; PMCID: PMC10366687.
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Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2023 09; 33(9):63-68. Wang LH, Leung DG, Wagner KR, Lowry SJ, McDermott MP, Eichinger K, Higgs K, Walker M, Lewis L, Martens WB, Mul K, Sansone VA, Shieh P, Elsheikh B, LoRusso S, Butterfield RJ, Johnson N, Preston MR, Messina C, Carraro E, Tawil R, Statland J, ReSolve Investigators of the FSHD CTRN. PMID: 37400350; PMCID: PMC10527411.
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Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status. J Comp Eff Res. 2023 04; 12(4):e220190. McDonald CM, Marden JR, Shieh PB, Wong BL, Lane H, Zhang A, Nguyen H, Frean M, Trifillis P, Koladicz K, Signorovitch J. PMID: 36749302; PMCID: PMC10402754.
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Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG). J Neuromuscul Dis. 2023; 10(3):389-404. Finkel RS, Darras BT, Mendell JR, Day JW, Kuntz NL, Connolly AM, Zaidman CM, Crawford TO, Butterfield RJ, Shieh PB, Tennekoon G, Brandsema JF, Iannaccone ST, Shoffner J, Kavanagh S, Macek TA, Tauscher-Wisniewski S. PMID: 36911944; PMCID: PMC10200150.
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Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurol. 2022 10 01; 79(10):1005-1014. Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans N, Haberlova J, Straub V, Mengle-Gaw LJ, Schwartz BD, Harper AD, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster R, McMillan HJ, Kuntz NL, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez-Padilla JJ, Nascimento-Osorio A, Niks EH, de Groot IJM, Katsalouli M, James MK, van den Anker J, Damsker JM, Ahmet A, Ward LM, Jaros M, Shale P, Dang UJ, Hoffman EP. PMID: 36036925; PMCID: PMC9425287.
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Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy. Int J Gen Med. 2022; 15:7341-7353. Ramos-Platt L, Elman L, Shieh PB. PMID: 36157294; PMCID: PMC9491367.
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Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis. Neurology. 2022 08 30; 99(9):e877-e889. Mellion ML, Widholm P, Karlsson M, Ahlgren A, Tawil R, Wagner KR, Statland JM, Wang L, Shieh PB, van Engelen BGM, Kools J, Ronco L, Odueyungbo A, Jiang J, Han JJ, Hatch M, Towles J, Leinhard OD, Cadavid D. PMID: 35750498.
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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1381-1389. Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Tauscher-Wisniewski S, McGill BE, Macek TA. PMID: 35715566; PMCID: PMC9205281.
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022 07; 28(7):1390-1397. Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Wigderson M, Tauscher-Wisniewski S, McGill BE, Macek TA. PMID: 35715567; PMCID: PMC9205287.
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Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability. Muscle Nerve. 2022 08; 66(2):183-192. Widholm P, Ahlgren A, Karlsson M, Romu T, Tawil R, Wagner KR, Statland JM, Wang LH, Shieh PB, van Engelen BGM, Cadavid D, Ronco L, Odueyungbo AO, Jiang JG, Mellion ML, Dahlqvist Leinhard O. PMID: 35585766.
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Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2022 07; 66(1):50-62. Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM. PMID: 35428982; PMCID: PMC9321022.
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Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 04 19; 327(15):1456-1468. Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group, Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. PMID: 35381069; PMCID: PMC8984930.
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Facial diplegia with paresthesia associated with anti-GD1a antibodies. Proc (Bayl Univ Med Cent). 2022; 35(3):387-388. Strawbridge J, Fu KA, Chan J, Flavin W, Cohen J, Keselman I, Shieh P. PMID: 35518821; PMCID: PMC9037508.
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INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. J Neuromuscul Dis. 2022; 9(4):503-516. 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. PMID: 35694931; PMCID: PMC9398079.
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A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment. J Neuromuscul Dis. 2022; 9(1):39-52. Mitelman O, Abdel-Hamid HZ, Byrne BJ, Connolly AM, Heydemann P, Proud C, Shieh PB, Wagner KR, Dugar A, Santra S, Signorovitch J, Goemans N, investigators from the LNMRC Natural History study, McDonald CM, investigators from the CINRG Duchenne National History Study, Mercuri E, investigators from The DMD Italian Group, Mendell JR. PMID: 34420980; PMCID: PMC8842766.
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Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2021 12; 10(18):1337-1347. Shieh PB, Elfring G, Trifillis P, Santos C, Peltz SW, Parsons JA, Apkon S, Darras BT, Campbell C, McDonald CM, Members of the Ataluren Phase IIb Study Group, Members of the Ataluren Phase IIb Study Clinical Evaluator Training Group, Members of the ACT DMD Study Group, Members of the ACT DMD Clinical Evaluator Training Group. PMID: 34693725.
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Long-term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis. Muscle Nerve. 2021 09; 64(3):342-346. Sansone VA, Johnson NE, Hanna MG, Ciafaloni E, Statland JM, Shieh PB, Cohen F, Griggs RC. PMID: 34129236; PMCID: PMC9290603.
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Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics. 2021 Jul; 18(3):2130. 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. PMID: 34731415; PMCID: PMC8609058.
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Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double-blind, placebo-controlled, dose-titration trial. Muscle Nerve. 2021 09; 64(3):285-292. Wagner KR, Kuntz NL, Koenig E, East L, Upadhyay S, Han B, Shieh PB. PMID: 34105177; PMCID: PMC9290993.
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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 05 21; 13(1):90. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. PMID: 34020708; PMCID: PMC8140440.
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Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021 04; 20(4):284-293. Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR. PMID: 33743238.
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Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study. Neurotherapeutics. 2021 04; 18(2):1127-1136. 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, Shieh PB, Mah JK, Statland J, Campbell C, Habib AA, Kuntz NL, Oskoui M, Day JW, Finkel RS. PMID: 33624184; PMCID: PMC8423982.
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Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study. Muscle Nerve. 2021 05; 63(5):668-677. Acsadi G, Crawford TO, Müller-Felber W, Shieh PB, Richardson R, Natarajan N, Castro D, Ramirez-Schrempp D, Gambino G, Sun P, Farwell W. PMID: 33501671; PMCID: PMC8248061.
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Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial. Neuromuscul Disord. 2021 05; 31(5):385-396. Finkel RS, Finanger E, Vandenborne K, Sweeney HL, Tennekoon G, Shieh PB, Willcocks R, Walter G, Rooney WD, Forbes SC, Triplett WT, Yum SW, Mancini M, MacDougall J, Fretzen A, Bista P, Nichols A, Donovan JM. PMID: 33678513.
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Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial. J Neuromuscul Dis. 2021; 8(6):989-1001. McDonald CM, Shieh PB, Abdel-Hamid HZ, Connolly AM, Ciafaloni E, Wagner KR, Goemans N, Mercuri E, Khan N, Koenig E, Malhotra J, Zhang W, Han B, Mendell JR, the Italian DMD Telethon Registry Study Group, Leuven NMRC Registry Investigators, CINRG Duchenne Na. PMID: 34120909; PMCID: PMC8673535.
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Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte. Hum Gene Ther. 2020 08; 31(15-16):787. Shieh PB, Bönnemann CG, Müller-Felber W, Blaschek A, Dowling JJ, Kuntz NL, Seferian AM. PMID: 32777938; PMCID: PMC7462017.
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Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders. Genet Test Mol Biomarkers. 2020 Oct; 24(10):616-624. Tan CA, Westbrook MJ, Truty R, Kvitek DJ, Kennemer M, Winder TL, Shieh PB. PMID: 32721234.
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Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. Neurol Genet. 2020 Aug; 6(4):e468. Szelinger S, Krate J, Ramsey K, Strom SP, Shieh PB, Lee H, Belnap N, Balak C, Siniard AL, Russell M, Richholt R, Both M, Claasen AM, Schrauwen I, Nelson SF, Huentelman MJ, Craig DW, Yang SP, Moore SA, Sivakumar K, Narayanan V, Rangasamy S, UCLA Clinical Genomics Center. PMID: 32754643; PMCID: PMC7357421.
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Advances in the Genetic Testing of Neuromuscular Diseases. Neurol Clin. 2020 08; 38(3):519-528. Shieh PB. PMID: 32703465.
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The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic. Muscle Nerve. 2020 07; 62(1):41-45. Veerapandiyan A, Wagner KR, Apkon S, McDonald CM, Mathews KD, Parsons JA, Wong BL, Eichinger K, Shieh PB, Butterfield RJ, Rao VK, Smith EC, Proud CM, Connolly AM, Ciafaloni E. PMID: 32329920; PMCID: PMC7264600.
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The Last Mile: DSCSA Solution Through Blockchain Technology: Drug Tracking, Tracing, and Verification at the Last Mile of the Pharmaceutical Supply Chain with BRUINchain. Blockchain Healthc Today. 2020; 3. Chien W, de Jesus J, Taylor B, Dods V, Alekseyev L, Shoda D, Shieh PB. PMID: 36777051; PMCID: PMC9907423.
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Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. Neuropathology. 2020 Jun; 40(3):302-307. Woods JD, Khanlou N, Lee H, Signer R, Shieh P, Chen J, Herzog M, Palmer C, Martinez-Agosto J, Undiagnosed Diseases Network, Nelson SF. PMID: 32037607; PMCID: PMC7317439.
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Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. Neurology. 2020 02 18; 94(7):e687-e698. Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, Goldstein A, Karaa A, Koenig MK, Muraresku CC, Meyer C, O'Grady M, Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J. PMID: 31896620; PMCID: PMC7176297.
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RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. J Neuromuscul Dis. 2020; 7(2):145-152. 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. PMID: 32039859; PMCID: PMC7739962.
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Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2. J Neuromuscul Dis. 2020; 7(2):97-100. 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. PMID: 32007960; PMCID: PMC7175931.
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Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy. J Health Econ Outcomes Res. 2019; 6(3):185-195. Tan H, Gu T, Chen E, Punekar R, Shieh PB. PMID: 32685590; PMCID: PMC7299449.
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Myelopathy in a patient with leukodystrophy due to CSF1R mutation. Neurol Genet. 2019 Dec; 5(6):e376. Ho VM, Hovsepian DA, Shieh PB. PMID: 31872055; PMCID: PMC6878835.
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Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials. Muscle Nerve. 2020 01; 61(1):26-35. McDonald CM, Sajeev G, Yao Z, McDonnell E, Elfring G, Souza M, Peltz SW, Darras BT, Shieh PB, Cox DA, Landry J, Signorovitch J, ACT DMD Study Group and the Tadalafil DMD Study Group. PMID: 31599456; PMCID: PMC6973289.
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Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
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Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature. Neuromuscul Disord. 2019 11; 29(11):863-873. Gibbs EM, Barthélémy F, Douine ED, Hardiman NC, Shieh PB, Khanlou N, Crosbie RH, Nelson SF, Miceli MC. PMID: 31672265; PMCID: PMC7092699.
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Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study. BMC Neurol. 2019 Sep 10; 19(1):224. LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R, ReSolve Investigators and the FSHD CTRN18. PMID: 31506080; PMCID: PMC6734593.
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Secondary membranous nephropathy in a patient with myasthenia gravis without thymic disease, and partial remission induced by adrenocorticotropic hormone therapy. SAGE Open Med Case Rep. 2019; 7:2050313X19869764. Hanna RM, Arman F, Selamet U, Wallace WD, Barsoum M, Rastogi A, Nobakht N, Shieh P. PMID: 31448123; PMCID: PMC6689923.
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Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4. Neurology. 2019 03 26; 92(13):e1405-e1415. Elia N, Palmio J, Castañeda MS, Shieh PB, Quinonez M, Suominen T, Hanna MG, Männikkö R, Udd B, Cannon SC. PMID: 30824560; PMCID: PMC6453767.
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Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS. J Clin Neuromuscul Dis. 2019 Mar; 20(3):111-119. Shieh P, Sharma K, Kohrman B, Oh SJ. PMID: 30801481; PMCID: PMC6392213.
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Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy. Neurotherapeutics. 2018 10; 15(4):840-848. Shieh PB. PMID: 30414046; PMCID: PMC6277306.
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Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial. Muscle Nerve. 2018 11; 58(5):639-645. Shieh PB, Mcintosh J, Jin F, Souza M, Elfring G, Narayanan S, Trifillis P, Peltz SW, Mcdonald CM, Darras BT, THE ACT DMD STUDY GROUP. PMID: 30028519; PMCID: PMC6767037.
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Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! Contemp Clin Trials Commun. 2018 Sep; 11:113-119. Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT, NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. PMID: 30094386; PMCID: PMC6072892.
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A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19(1):291. Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. PMID: 29793540; PMCID: PMC5968578.
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Congenital Myasthenic Syndromes. Neurol Clin. 2018 05; 36(2):367-378. Shieh PB, Oh SJ. PMID: 29655455.
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Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med. 2018 02 15; 378(7):625-635. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS, CHERISH Study Group. PMID: 29443664.
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Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. J Neuromuscul Dis. 2018; 5(2):145-158. Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. PMID: 29614695; PMCID: PMC6004919.
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Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec; 82(6):883-891. 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. PMID: 29149772; PMCID: PMC5776712.
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Review of the Diagnosis and Treatment of Periodic Paralysis. Muscle Nerve. 2018 04; 57(4):522-530. Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC. PMID: 29125635; PMCID: PMC5867231.
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Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy. J Clin Neuromuscul Dis. 2017 Sep; 19(1):19-26. Argov Z, Bronstein F, Esposito A, Feinsod-Meiri Y, Florence JM, Fowler E, Greenberg MB, Malkus EC, Rebibo O, Siener CS, Caraco Y, Kolodny EH, Lau HA, Pestronk A, Shieh P, Skrinar AM, Mayhew JE. PMID: 28827485; PMCID: PMC5636058.
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Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 09 23; 390(10101):1489-1498. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group, ACT DMD Study Group. PMID: 28728956.
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Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemp Clin Trials. 2017 07; 58:34-39. Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. PMID: 28450193; PMCID: PMC6279424.
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Exercise responses in patients with chronically high creatine kinase levels. Muscle Nerve. 2017 08; 56(2):264-270. Cooper CB, Dolezal BA, Neufeld EV, Shieh P, Jenner JR, Riley M. PMID: 27935086.
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Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging. 2016 11; 47:218.e1-218.e9. Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H, Muscle Study Group and The International IBM Genetics Consortium. PMID: 27594680; PMCID: PMC5082791.
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Reverse fiber type disproportion: A distinct metabolic myopathy. Muscle Nerve. 2016 06; 54(1):86-93. Cooper CB, Dolezal BA, Riley M, Verity MA, Shieh PB. PMID: 26600317.
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Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS. Muscle Nerve. 2016 May; 53(5):717-25. Oh SJ, Shcherbakova N, Kostera-Pruszczyk A, Alsharabati M, Dimachkie M, Blanco JM, Brannagan T, Lavrnic D, Shieh PB, Vial C, Meisel A, Komoly S, Schoser B, Sivakumar K, So Y, LEMS Study Group. PMID: 26852139.
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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. J Neuromuscul Dis. 2016 03 03; 3(1):49-66. Argov Z, Caraco Y, Lau H, Pestronk A, Shieh PB, Skrinar A, Koutsoukos T, Ahmed R, Martinisi J, Kakkis E. PMID: 27854209; PMCID: PMC5271423.
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Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis. Neurology. 2016 Apr 12; 86(15):1408-1416. Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC, Muscle Study Group. PMID: 26865514; PMCID: PMC4831040.
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Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study. Ann Clin Transl Neurol. 2016 02; 3(2):132-45. 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, Iannaccone ST, 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, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT, NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. PMID: 26900585; PMCID: PMC4748311.
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Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine. Muscle Nerve. 2016 Feb; 53(2):165-8. Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, Dimberg E, Sousa EA, Donofrio PD, Dyck PJ, Engel AG, Ensrud ER, Ferrante M, Freimer M, Gable KL, Gibson S, Gilchrist JM, Goldstein JM, Gooch CL, Goodman BP, Gorelov D, Gospe SM, Goyal NA, Guidon AC, Guptill JT, Gutmann L, Gutmann L, Gwathmey K, Harati Y, Harper CM, Hehir MK, Hobson-Webb LD, Howard JF, Jackson CE, Johnson N, Jones SM, Juel VC, Kaminski HJ, Karam C, Kennelly KD, Khella S, Khoury J, Kincaid JC, Kissel JT, Kolb N, Lacomis D, Ladha S, Larriviere D, Lewis RA, Li Y, Litchy WJ, Logigian E, Lou JS, MacGowen DJ, Maselli R, Massey JM, Mauermann ML, Mathews KD, Meriggioli MN, Miller RG, Moon JS, Mozaffar T, Nations SP, Nowak RJ, Ostrow LW, Pascuzzi RM, Peltier A, Ruzhansky K, Richman DP, Ross MA, Rubin DI, Russell JA, Sachs GM, Salajegheh MK, Saperstein DS, Scelsa S, Selcen D, Shaibani A, Shieh PB, Silvestri NJ, Singleton JR, Smith BE, So YT, Solorzano G, Sorenson EJ, Srinivasen J, Tavee J, Tawil R, Thaisetthawatkul P, Thornton C, Trivedi J, Vernino S, Wang AK, Webb TA, Weiss MD, Windebank AJ, Wolfe GI. PMID: 26662952.
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Metabolic Myopathies. Semin Neurol. 2015 Aug; 35(4):385-97. Adler M, Shieh PB. PMID: 26502762.
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Duchenne muscular dystrophy: clinical trials and emerging tribulations. Curr Opin Neurol. 2015 Oct; 28(5):542-6. Shieh PB. PMID: 26280938.
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The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. Neurobiol Aging. 2015 Apr; 36(4):1766.e1-1766.e3. Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H, Muscle Study Group and the International IBM Genetics Consortium(#). PMID: 25670332; PMCID: PMC4378665.
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Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014 Nov 12; 312(18):1880-7. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. PMID: 25326637; PMCID: PMC4278636.
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Muscular dystrophies and other genetic myopathies. Neurol Clin. 2013 Nov; 31(4):1009-29. Shieh PB. PMID: 24176421.
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 01; 81(14):1205-14. 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. PMID: 23975875; PMCID: PMC3795603.
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Intact skeletal muscle mitochondrial enzyme activity but diminished exercise capacity in advanced heart failure patients on optimal medical and device therapy. Clin Res Cardiol. 2013 Aug; 102(8):547-54. Middlekauff HR, Verity MA, Horwich TB, Fonarow GC, Hamilton MA, Shieh P. PMID: 23575739; PMCID: PMC3710307.
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Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 Apr 23; 80(17):1584-9. Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG. PMID: 23553484; PMCID: PMC3662324.
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Abnormalities of calcium handling proteins in skeletal muscle mirror those of the heart in humans with heart failure: a shared mechanism? J Card Fail. 2012 Sep; 18(9):724-33. Middlekauff HR, Vigna C, Verity MA, Fonarow GC, Horwich TB, Hamilton MA, Shieh P, Tupling AR. PMID: 22939042; PMCID: PMC3437990.
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012 Apr 29; 44(6):704-8. Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. PMID: 22544365; PMCID: PMC3366034.
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Valosin-containing protein mutation and Parkinson's disease. Parkinsonism Relat Disord. 2012 Jan; 18(1):107-9. Chan N, Le C, Shieh P, Mozaffar T, Khare M, Bronstein J, Kimonis V. PMID: 21816654.
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Limb-girdle muscular dystrophy 2H and the role of TRIM32. Handb Clin Neurol. 2011; 101:125-33. Shieh PB, Kudryashova E, Spencer MJ. PMID: 21496629.
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Cerebellar transcranial magnetic stimulation impairs verbal working memory. Ann Neurol. 2005 Oct; 58(4):553-60. Desmond JE, Chen SH, Shieh PB. PMID: 16178033.
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