Search Results - Shieh, Perry B.

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  1. 1
    Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy

    Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy by Shieh, Perry B.

    Published 2018
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  2. 2
    Myelopathy in a patient with leukodystrophy due to CSF1R mutation

    Myelopathy in a patient with leukodystrophy due to CSF1R mutation by Ho, Victoria M., Hovsepian, Dominic A., Shieh, Perry B.

    Published 2019
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  3. 3
    Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy

    Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy by Tan, Hiangkiat, Gu, Tao, Chen, Er, Punekar, Rajeshwari, Shieh, Perry B.

    Published 2019
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  4. 4
    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

    Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled,... by Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.

    Published 2021
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  5. 5
    Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte

    Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte by Shieh, Perry B., Bönnemann, Carsten G., Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.

    Published 2020
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  6. 6
    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

    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, Controll... by Argov, Zohar, Caraco, Yoseph, Lau, Heather, Pestronk, Alan, Shieh, Perry B., Skrinar, Alison, Koutsoukos, Tony, Ahmed, Ruhi, Martinisi, Julia, Kakkis, Emil

    Published 2016
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  7. 7
    Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis

    Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis by Sansone, Valeria A., Johnson, Nicholas E., Hanna, Michael G., Ciafaloni, Emma, Statland, Jeffrey M., Shieh, Perry B., Cohen, Fredric, Griggs, Robert C.

    Published 2021
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  8. 8
    Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial

    Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial by Shieh, Perry B., Mcintosh, Joseph, Jin, Fengbin, Souza, Marcio, Elfring, Gary, Narayanan, Siva, Trifillis, Panayiota, Peltz, Stuart W., Mcdonald, Craig M., Darras, Basil T.

    Published 2018
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  9. 9
    Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4

    Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4 by Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.

    Published 2019
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  10. 10
    Large in-frame 5’ deletions in DMD associated with mild Duchenne muscular dystrophy: two case reports and a review of the literature

    Large in-frame 5’ deletions in DMD associated with mild Duchenne muscular dystrophy: two case reports and a review of the literature by Gibbs, Elizabeth M., Barthélémy, Florian, Douine, Emilie D., Hardiman, Natalie, Shieh, Perry B., Khanlou, Negar, Crosbie, Rachelle H., Nelson, Stanley F., Miceli, M. Carrie

    Published 2019
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  11. 11
    Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

    Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study by Acsadi, Gyula, Crawford, Thomas O., Müller‐Felber, Wolfgang, Shieh, Perry B., Richardson, Randal, Natarajan, Niranjana, Castro, Diana, Ramirez‐Schrempp, Daniela, Gambino, Giulia, Sun, Peng, Farwell, Wildon

    Published 2021
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  12. 12
    Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

    Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum by Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.

    Published 2013
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  13. 13
    Review of the Diagnosis and Treatment of Periodic Paralysis

    Review of the Diagnosis and Treatment of Periodic Paralysis by Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas E., Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert C.

    Published 2017
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  14. 14
    Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials

    Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials by McDonald, Craig M., Sajeev, Gautam, Yao, Zhiwen, McDonnell, Erin, Elfring, Gary, Souza, Marcio, Peltz, Stuart W., Darras, Basil T., Shieh, Perry B., Cox, David A., Landry, John, Signorovitch, James

    Published 2019
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  15. 15
    Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

    Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening by Glascock, Jacqueline, Sampson, Jacinda, Haidet-Phillips, Amanda, Connolly, Anne, Darras, Basil, Day, John, Finkel, Richard, Howell, R. Rodney, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill

    Published 2018
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  16. 16
    Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

    Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 by Glascock, Jacqueline, Sampson, Jacinda, Connolly, Anne M., Darras, Basil T., Day, John W., Finkel, Richard, Howell, R. Rodney, Klinger, Katherine W., Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Crawford, Thomas O., Kerr, Douglas, Jarecki, Jill

    Published 2020
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  17. 17
    Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial

    Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial by McDonald, Craig M., Shieh, Perry B., Abdel-Hamid, Hoda Z., Connolly, Anne M., Ciafaloni, Emma, Wagner, Kathryn R., Goemans, Nathalie, Mercuri, Eugenio, Khan, Navid, Koenig, Erica, Malhotra, Jyoti, Zhang, Wenfei, Han, Baoguang, Mendell, Jerry R.

    Published 2021
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  18. 18
    A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment

    A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment by Mitelman, Olga, Abdel-Hamid, Hoda Z., Byrne, Barry J., Connolly, Anne M., Heydemann, Peter, Proud, Crystal, Shieh, Perry B., Wagner, Kathryn R., Dugar, Ashish, Santra, Sourav, Signorovitch, James, Goemans, Nathalie, McDonald, Craig M., Mercuri, Eugenio, Mendell, Jerry R.

    Published 2022
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  19. 19
    RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

    RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design by Finkel, Richard S., Day, John W., De Vivo, Darryl C., Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Shieh, Perry B., Tizzano, Eduardo, Desguerre, Isabelle, Quijano-Roy, Susana, Saito, Kayoko, Droege, Marcus, Dabbous, Omar, Khan, Farid, Renault, Lydie, Anderson, Frederick A., Servais, Laurent

    Published 2020
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  20. 20
    The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic

    The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic by Veerapandiyan, Aravindhan, Wagner, Kathryn R., Apkon, Susan, McDonald, Craig M., Mathews, Katherine D., Parsons, Julie A., Wong, Brenda L., Eichinger, Katy, Shieh, Perry B., Butterfield, Russell J., Rao, Vamshi K., Smith, Edward C., Proud, Crystal M., Connolly, Anne M., Ciafaloni, Emma

    Published 2020
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