Search Results - "Shieh, Perry B."

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders by 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

“…IMPORTANCE: Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders. OBJECTIVE: To…”
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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.

“…ABSTRACT Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs…”
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Muscular Dystrophies and Other Genetic Myopathies by Shieh, Perry B., MD, PhD

“…With advances in the genetics of muscle disease, the term, muscular dystrophy , has expanded to include mutations in an increasing large list of genes. This…”
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy by 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.

“…OBJECTIVE:To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in…”
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Congenital Myasthenic Syndromes by Shieh, Perry B., MD, PhD, Oh, Shin J., MD

“…The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these…”
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration by Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Jen, Joanna C

“…Jaonna Jen and colleagues identify mutations in EXOSC3 , encoding a core RNA exosome component, causing pontocerebellar hypoplasia type 1 (PCH1), a recessive…”
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Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy by Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz‐Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez‐Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, Rijn, Marc, Attie, Kenneth M.

“…Introduction/Aims Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we…”
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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 by Mendell, Jerry R, Shieh, Perry B, McDonald, Craig M, Sahenk, Zarife, Lehman, Kelly J, Lowes, Linda P, Reash, Natalie F, Iammarino, Megan A, Alfano, Lindsay N, Sabo, Brenna, Woods, Jeremy D, Skura, Christy L, Mao, Howard C, Staudt, Loretta A, Griffin, Danielle A, Lewis, Sarah, Wang, Shufang, Potter, Rachael A, Singh, Teji, Rodino-Klapac, Louise R

“…Delandistrogene moxeparvovec (SRP-9001) is an investigational gene transfer therapy designed for targeted expression of SRP-9001 dystrophin protein, a…”
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Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status by 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

“…To examine benefits of corticosteroids for Duchenne muscular dystrophy (DMD) by age and disease progression. Data from daily steroid users (placebo-treated)…”
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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 by Chien, William, de Jesus, Josenor, Taylor, Ben, Dods, Victor, Alekseyev, Leo, Shoda, Diane, Shieh, Perry B

“…As part of the FDA's DSCSA Pilot Project Program, UCLA and its solution partner, LedgerDomain (collectively referred to as the team hereafter), focused on…”
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Cerebellar transcranial magnetic stimulation impairs verbal working memory by Desmond, John E., Chen, S. H. Annabel, Shieh, Perry B.

“…Previous functional magnetic resonance imaging and patient studies indicate cerebellar participation in verbal working memory. In particular, event‐related…”
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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 by Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.

“…Introduction/Aims Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene resulting in the absence of dystrophin. Casimersen is a…”
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The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis by Gang, Qiang, Bettencourt, Conceicao, Machado, Pedro M, Fox, Zoe, Brady, Stefen, Healy, Estelle, Parton, Matt, Holton, Janice L, Hilton-Jones, David, Shieh, Perry B, Zanoteli, Edmar, De Paepe, Boel, De Bleecker, Jan, Shaibani, Aziz, Ripolone, Michela, Violano, Raffaella, Moggio, Maurizio, Barohn, Richard J, Dimachkie, Mazen M, Mora, Marina, Mantegazza, Renato, Zanotti, Simona, Hanna, Michael G, Houlden, Henry

“…Abstract A previous study showed that, in carriers of the apolipoprotein E ( APOE ) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat…”
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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

“…To understand treatment patterns, healthcare resource utilization, and costs of care among patients with spinal muscular atrophy (SMA). SMA patients were…”
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Advances in the Genetic Testing of Neuromuscular Diseases by Shieh, Perry B.

“…Genetic testing in clinical practice commonly involves next-generation sequencing and most testing has been focused on specific sets of genes that are relevant…”
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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 by Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, Mendell, Jerry R

“…Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the…”
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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 by Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

“…SPR1NT ( NCT03505099 ) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic…”
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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 by Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

“…Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT ( NCT03505099 ), a Phase III,…”
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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

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Muscleblind‐like 2 (Mbnl2) ‐deficient mice as a model for myotonic dystrophy by Hao, Minqi, Akrami, Kevan, Wei, Ke, De Diego, Carlos, Che, Nam, Ku, Jeong‐Hee, Tidball, James, Graves, Michael C., Shieh, Perry B., Chen, Fabian

“…Myotonic dystrophy (DM), the most common adult‐onset muscular dystrophy, is caused by CTG or CCTG microsatellite repeat expansions. Expanded DM mRNA…”
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