Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy

von Shieh, Perry B.
Veröffentlicht in Neurotherapeutics (2018)

Myelopathy in a patient with leukodystrophy due to CSF1R mutation

von Ho, Victoria M., Hovsepian, Dominic A., Shieh, Perry B.
Veröffentlicht in Neurol Genet (2019)

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

von Tan, Hiangkiat, Gu, Tao, Chen, Er, Punekar, Rajeshwari, Shieh, Perry B.
Veröffentlicht in J Health Econ Outcomes Res (2019)

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

von Shieh, Perry B., Bönnemann, Carsten G., Müller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James J., Kuntz, Nancy L., Seferian, Andreea M.
Veröffentlicht in Hum Gene Ther (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...

von Argov, Zohar, Caraco, Yoseph, Lau, Heather, Pestronk, Alan, Shieh, Perry B., Skrinar, Alison, Koutsoukos, Tony, Ahmed, Ruhi, Martinisi, Julia, Kakkis, Emil
Veröffentlicht in J Neuromuscul Dis (2016)

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

von Shieh, Perry B., Mcintosh, Joseph, Jin, Fengbin, Souza, Marcio, Elfring, Gary, Narayanan, Siva, Trifillis, Panayiota, Peltz, Stuart W., Mcdonald, Craig M., Darras, Basil T.
Veröffentlicht in Muscle Nerve (2018)

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

von Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.
Veröffentlicht in Neurology (2019)

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

von Gibbs, Elizabeth M., Barthélémy, Florian, Douine, Emilie D., Hardiman, Natalie, Shieh, Perry B., Khanlou, Negar, Crosbie, Rachelle H., Nelson, Stanley F., Miceli, M. Carrie
Veröffentlicht in Neuromuscul Disord (2019)

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

von 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
Veröffentlicht in Muscle Nerve (2021)

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

von 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.
Veröffentlicht 2013

Review of the Diagnosis and Treatment of Periodic Paralysis

von 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.
Veröffentlicht in Muscle Nerve (2017)

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

von 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
Veröffentlicht in Muscle Nerve (2019)

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

von 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
Veröffentlicht in J Neuromuscul Dis (2018)

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

von 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
Veröffentlicht in J Neuromuscul Dis (2020)

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

von 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
Veröffentlicht in J Neuromuscul Dis (2020)

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

von 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
Veröffentlicht in Muscle Nerve (2020)

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

von Madsen, Karen L., Buch, Astrid E., Cohen, Bruce H., Falk, Marni J., Goldsberry, Angela, Goldstein, Amy, Karaa, Amel, Koenig, Mary K., Muraresku, Colleen C., Meyer, Colin, O'Grady, Megan, Scaglia, Fernando, Shieh, Perry B., Vockley, Jerry, Zolkipli-Cunningham, Zarazuela, Haller, Ronald G., Vissing, John
Veröffentlicht in Neurology (2020)

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

von Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.
Veröffentlicht 2013

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

von Lee, Hane, Deignan, Joshua L., Dorrani, Naghmeh, Strom, Samuel P., Kantarci, Sibel, Quintero-Rivera, Fabiola, Das, Kingshuk, Toy, Traci, Harry, Bret, Yourshaw, Michael, Fox, Michelle, Fogel, Brent L., Martinez-Agosto, Julian A., Wong, Derek A., Chang, Vivian Y., Shieh, Perry B., Palmer, Christina G. S., Dipple, Katrina M., Grody, Wayne W., Vilain, Eric, Nelson, Stanley F.
Veröffentlicht in JAMA (2014)

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

von Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar
Veröffentlicht in Neurol Genet (2020)