Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
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
Published in JAMA : the journal of the American Medical Association (12.11.2014)
Published in JAMA : the journal of the American Medical Association (12.11.2014)
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Review of the Diagnosis and Treatment of Periodic Paralysis
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 in Muscle & nerve (01.04.2018)
Published in Muscle & nerve (01.04.2018)
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
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
Published in Neurology (01.10.2013)
Published in Neurology (01.10.2013)
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
JIJUN WAN, YOURSHAW, Michael, 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, MAMSA, Hafsa, VINTERS, Harry V, ZUGEN CHEN, ZERRES, Klaus, RYAN, Monique M, NELSON, Stanley F, JEN, Joanna C, RUDNIK-SCHONEBORN, Sabine, MENEZES, Manoj P, JI EUN HONG, LEONG, Derek W, SENDEREK, Jan, SALMAN, Michael S, CHITAYAT, David
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy
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.
Published in Muscle & nerve (01.07.2022)
Published in Muscle & nerve (01.07.2022)
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Disease progression rates in ambulatory Duchenne muscular dystrophy by steroid type, patient age and functional status
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
Published in Journal of comparative effectiveness research (01.04.2023)
Published in Journal of comparative effectiveness research (01.04.2023)
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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
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
Published in Frontiers in cell and developmental biology (11.07.2023)
Published in Frontiers in cell and developmental biology (11.07.2023)
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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
Chien, William, de Jesus, Josenor, Taylor, Ben, Dods, Victor, Alekseyev, Leo, Shoda, Diane, Shieh, Perry B
Published in Blockchain in healthcare today (2020)
Published in Blockchain in healthcare today (2020)
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Cerebellar transcranial magnetic stimulation impairs verbal working memory
Desmond, John E., Chen, S. H. Annabel, Shieh, Perry B.
Published in Annals of neurology (01.10.2005)
Published in Annals of neurology (01.10.2005)
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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
Wagner, Kathryn R., Kuntz, Nancy L., Koenig, Erica, East, Lilly, Upadhyay, Sameer, Han, Baoguang, Shieh, Perry B.
Published in Muscle & nerve (01.09.2021)
Published in Muscle & nerve (01.09.2021)
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The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis
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
Published in Neurobiology of aging (01.04.2015)
Published in Neurobiology of aging (01.04.2015)
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Muscleblind‐like 2 (Mbnl2) ‐deficient mice as a model for myotonic dystrophy
Hao, Minqi, Akrami, Kevan, Wei, Ke, De Diego, Carlos, Che, Nam, Ku, Jeong‐Hee, Tidball, James, Graves, Michael C., Shieh, Perry B., Chen, Fabian
Published in Developmental dynamics (01.02.2008)
Published in Developmental dynamics (01.02.2008)
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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
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
Published in Nature medicine (01.07.2022)
Published in Nature medicine (01.07.2022)
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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
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
Published in Nature medicine (01.07.2022)
Published in Nature medicine (01.07.2022)
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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
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
Published in Lancet neurology (01.04.2021)
Published in Lancet neurology (01.04.2021)
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