Perry B Shieh

Title(s)HS Clinical Professor, Neurology
SchoolMedicine
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. J Neurol Neurosurg Psychiatry. 2024 Jan 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    3. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    6. 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.
      View in: PubMed   Mentions: 2     Fields:    
    7. 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.
      View in: PubMed   Mentions: 6  
    8. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    9. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCTClinical Trials
    10. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    11. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    12. 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.
      View in: PubMed   Mentions: 5  
    13. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    14. 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.
      View in: PubMed   Mentions: 51     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    15. 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.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansCTClinical Trials
    16. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCTClinical Trials
    18. 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.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    19. 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.
      View in: PubMed   Mentions:
    20. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    21. 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.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    22. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    23. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    24. 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.
      View in: PubMed   Mentions:    Fields:    
    25. 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.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCTClinical Trials
    26. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    27. 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.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansCTClinical Trials
    28. 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.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCTClinical Trials
    29. 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.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    30. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCTClinical Trials
    31. 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.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCTClinical Trials
    32. 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.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    33. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    34. 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.
      View in: PubMed   Mentions: 5  
    35. Advances in the Genetic Testing of Neuromuscular Diseases. Neurol Clin. 2020 08; 38(3):519-528. Shieh PB. PMID: 32703465.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    36. 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.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCellsPHPublic Health
    37. 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.
      View in: PubMed   Mentions: 1  
    38. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    39. 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.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    40. 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.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansPHPublic Health
    41. 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    42. Healthcare Utilization, Costs of Care, and Mortality Among Psatients 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.
      View in: PubMed   Mentions: 5  
    43. 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: 37362080; PMCID: PMC10290515.
      View in: PubMed   Mentions: 1  
    44. 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.
      View in: PubMed   Mentions: 3  
    45. 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.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    46. 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.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansCells
    47. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    48. 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.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCTClinical Trials
    49. 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.
      View in: PubMed   Mentions: 1  
    50. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCTClinical Trials
    51. 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.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    52. Hearing and Vision Loss in an Older Man. JAMA Neurol. 2018 11 01; 75(11):1439-1440. Ho VM, Arac A, Shieh PB. PMID: 30039160.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    53. Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy. Neurotherapeutics. 2018 10; 15(4):840-848. Shieh PB. PMID: 30414046; PMCID: PMC6277306.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansAnimals
    54. 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.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    55. 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.
      View in: PubMed   Mentions: 9  
    56. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    57. Congenital Myasthenic Syndromes. Neurol Clin. 2018 05; 36(2):367-378. Shieh PB, Oh SJ. PMID: 29655455.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    58. 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.
      View in: PubMed   Mentions: 479     Fields:    Translation:HumansCTClinical Trials
    59. 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.
      View in: PubMed   Mentions: 70     Fields:    Translation:HumansPHPublic Health
    60. 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.
      View in: PubMed   Mentions: 120     Fields:    Translation:Humans
    61. 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.
      View in: PubMed   Mentions: 67     Fields:    Translation:Humans
    62. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    63. 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.
      View in: PubMed   Mentions: 194     Fields:    Translation:HumansCTClinical Trials
    64. 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.
      View in: PubMed   Mentions: 33     Fields:    Translation:Humans
    65. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    66. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    67. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    68. 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.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCTClinical Trials
    69. 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.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCTClinical Trials
    70. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    71. 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.
      View in: PubMed   Mentions: 59     Fields:    
    72. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    73. Metabolic Myopathies. Semin Neurol. 2015 Aug; 35(4):385-97. Adler M, Shieh PB. PMID: 26502762.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    74. Duchenne muscular dystrophy: clinical trials and emerging tribulations. Curr Opin Neurol. 2015 Oct; 28(5):542-6. Shieh PB. PMID: 26280938.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    75. 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.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    76. 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.
      View in: PubMed   Mentions: 465     Fields:    Translation:Humans
    77. Action potential-evoked calcium release is impaired in single skeletal muscle fibers from heart failure patients. PLoS One. 2014; 9(10):e109309. DiFranco M, Quiñonez M, Shieh P, Fonarow GC, Cruz D, Deng MC, Vergara JL, Middlekauff HR. PMID: 25310188; PMCID: PMC4195605.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    78. Muscular dystrophies and other genetic myopathies. Neurol Clin. 2013 Nov; 31(4):1009-29. Shieh PB. PMID: 24176421.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    79. 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.
      View in: PubMed   Mentions: 77     Fields:    Translation:Humans
    80. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    81. 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.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    82. 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.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    83. 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.
      View in: PubMed   Mentions: 123     Fields:    Translation:HumansAnimalsCells
    84. 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.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    85. 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.
      View in: PubMed   Mentions: 23     Fields:    Translation:Humans
    86. Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy. Dev Dyn. 2008 Feb; 237(2):403-10. Hao M, Akrami K, Wei K, De Diego C, Che N, Ku JH, Tidball J, Graves MC, Shieh PB, Chen F. PMID: 18213585.
      View in: PubMed   Mentions: 31     Fields:    Translation:AnimalsCells
    87. Cerebellar transcranial magnetic stimulation impairs verbal working memory. Ann Neurol. 2005 Oct; 58(4):553-60. Desmond JE, Chen SH, Shieh PB. PMID: 16178033.
      View in: PubMed   Mentions: 53     Fields:    Translation:HumansCTClinical Trials
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