Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy

por Ramos-Platt, Leigh, Elman, Lauren, Shieh, Perry B
Publicado 2022

Myelopathy in a patient with leukodystrophy due to CSF1R mutation

por Ho, Victoria M., Hovsepian, Dominic A., Shieh, Perry B.
Publicado 2019

Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy

por Tan, Hiangkiat, Gu, Tao, Chen, Er, Punekar, Rajeshwari, Shieh, Perry B.
Publicado 2019

Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy

por Tan, Hiangkiat, Gu, Tao, Chen, Er, Punekar, Rajeshwari, Shieh, Perry B.
Publicado 2019

The Last Mile: DSCSA Solution Through Blockchain Technology: Drug Tracking, Tracing, and Verification at the Last Mile of the Pharmaceutical Supply Chain with BRUINchain

por Chien, William, de Jesus, Josenor, Taylor, Ben, Dods, Victor, Alekseyev, Leo, Shoda, Diane, Shieh, Perry B.
Publicado 2020

Safety, tolerability, and pharmacokinetics of casimersen in patients with Duchenne muscular dystrophy amenable to exon 45 skipping: A randomized, double‐blind, placebo‐controlled,...

por Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.
Publicado 2021

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

por Shieh, Perry B., Bönnemann, Carsten G., Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.
Publicado 2020

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...

por Argov, Zohar, Caraco, Yoseph, Lau, Heather, Pestronk, Alan, Shieh, Perry B., Skrinar, Alison, Koutsoukos, Tony, Ahmed, Ruhi, Martinisi, Julia, Kakkis, Emil
Publicado 2016

Long‐term efficacy and safety of dichlorphenamide for treatment of primary periodic paralysis

por Sansone, Valeria A., Johnson, Nicholas E., Hanna, Michael G., Ciafaloni, Emma, Statland, Jeffrey M., Shieh, Perry B., Cohen, Fredric, Griggs, Robert C.
Publicado 2021

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

por Shieh, Perry B., Mcintosh, Joseph, Jin, Fengbin, Souza, Marcio, Elfring, Gary, Narayanan, Siva, Trifillis, Panayiota, Peltz, Stuart W., Mcdonald, Craig M., Darras, Basil T.
Publicado 2018

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

por Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.
Publicado 2019

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

por 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
Publicado 2021

Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status

por McDonald, Craig M, Marden, Jessica R, Shieh, Perry B, Wong, Brenda L, Lane, Henry, Zhang, Adina, Nguyen, Ha, Frean, Molly, Trifillis, Panayiota, Koladicz, Karyn, Signorovitch, James
Publicado 2023

Review of the Diagnosis and Treatment of Periodic Paralysis

por 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.
Publicado 2017

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

por 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
Publicado 2019

Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

por 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
Publicado 2018

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

por 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
Publicado 2020

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

por 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.
Publicado 2021

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

por 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.
Publicado 2022

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

por 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
Publicado 2020