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1.

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G.

J Neurol Neurosurg Psychiatry; 95(2): 103-113, 2024 Jan 11.

Artículo en Inglés | MEDLINE | ID: mdl-38041679

2.

Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability.

Widholm, Per; Ahlgren, André; Karlsson, Markus; Romu, Thobias; Tawil, Rabi; Wagner, Kathryn R; Statland, Jeffrey M; Wang, Leo H; Shieh, Perry B; van Engelen, Baziel G M; Cadavid, Diego; Ronco, Lucienne; Odueyungbo, Adefowope O; Jiang, John G; Mellion, Michelle L; Dahlqvist Leinhard, Olof.

Muscle Nerve; 66(2): 183-192, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35585766

3.

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; van de Rijn, Marc; Attie, Kenneth M.

Muscle Nerve; 66(1): 50-62, 2022 07.

Artículo en Inglés | MEDLINE | ID: mdl-35428982

4.

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.

Guglieri, Michela; Bushby, Kate; McDermott, Michael P; Hart, Kimberly A; Tawil, Rabi; Martens, William B; Herr, Barbara E; McColl, Elaine; Speed, Chris; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M; Eagle, Michelle; Brown, Mary W; Willis, Tracey; Griggs, Robert C; Straub, Volker; van Ruiten, Henriette; Childs, Anne-Marie; Ciafaloni, Emma; Shieh, Perry B; Spinty, Stefan; Maggi, Lorenzo; Baranello, Giovanni; Butterfield, Russell J; Horrocks, I A; Roper, Helen; Alhaswani, Zoya; Flanigan, Kevin M; Kuntz, Nancy L; Manzur, Adnan; Darras, Basil T; Kang, Peter B; Morrison, Leslie; Krzesniak-Swinarska, Monika; Mah, Jean K; Mongini, Tiziana E; Ricci, Federica; von der Hagen, Maja; Finkel, Richard S; O'Reardon, Kathleen; Wicklund, Matthew; Kumar, Ashutosh; McDonald, Craig M; Han, Jay J; Joyce, Nanette; Henricson, Erik K; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Wilichowski, Ekkehard.

JAMA; 327(15): 1456-1468, 2022 04 19.

Artículo en Inglés | MEDLINE | ID: mdl-35381069

5.

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Mercuri, Eugenio; Darras, Basil T; Chiriboga, Claudia A; Day, John W; Campbell, Craig; Connolly, Anne M; Iannaccone, Susan T; Kirschner, Janbernd; Kuntz, Nancy L; Saito, Kayoko; Shieh, Perry B; Tulinius, Már; Mazzone, Elena S; Montes, Jacqueline; Bishop, Kathie M; Yang, Qingqing; Foster, Richard; Gheuens, Sarah; Bennett, C Frank; Farwell, Wildon; Schneider, Eugene; De Vivo, Darryl C; Finkel, Richard S.

N Engl J Med; 378(7): 625-635, 2018 02 15.

Artículo en Inglés | MEDLINE | ID: mdl-29443664

6.

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.

Muscle Nerve; 64(3): 285-292, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34105177

7.

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

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

Muscle Nerve; 64(3): 342-346, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34129236

8.

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

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.

Muscle Nerve; 63(5): 668-677, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33501671

9.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Lee, Hane; Huang, Alden Y; Wang, Lee-Kai; Yoon, Amanda J; Renteria, Genecee; Eskin, Ascia; Signer, Rebecca H; Dorrani, Naghmeh; Nieves-Rodriguez, Shirley; Wan, Jijun; Douine, Emilie D; Woods, Jeremy D; Dell'Angelica, Esteban C; Fogel, Brent L; Martin, Martin G; Butte, Manish J; Parker, Neil H; Wang, Richard T; Shieh, Perry B; Wong, Derek A; Gallant, Natalie; Singh, Kathryn E; Tavyev Asher, Y Jane; Sinsheimer, Janet S; Krakow, Deborah; Loo, Sandra K; Allard, Patrick; Papp, Jeanette C; Palmer, Christina G S; Martinez-Agosto, Julian A; Nelson, Stanley F.

Genet Med; 22(3): 490-499, 2020 03.

Artículo en Inglés | MEDLINE | ID: mdl-31607746

10.

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

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.

Muscle Nerve; 61(1): 26-35, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31599456

11.

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

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.

Muscle Nerve; 62(1): 41-45, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32329920

12.

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu, Haluk; Tulinius, Már; Vilchez, Juan J; Voit, Thomas; Wong, Brenda; Elfring, Gary; Kroger, Hans; Luo, Xiaohui; McIntosh, Joseph; Ong, Tuyen; Riebling, Peter; Souza, Marcio; Spiegel, Robert J; Peltz, Stuart W; Mercuri, Eugenio.

Lancet; 390(10101): 1489-1498, 2017 09 23.

Artículo en Inglés | MEDLINE | ID: mdl-28728956

13.

Natural history of infantile-onset spinal muscular atrophy.

Kolb, Stephen J; Coffey, Christopher S; Yankey, Jon W; Krosschell, Kristin; Arnold, W David; Rutkove, Seward B; Swoboda, Kathryn J; Reyna, Sandra P; Sakonju, Ai; Darras, Basil T; Shell, Richard; Kuntz, Nancy; Castro, Diana; Parsons, Julie; Connolly, Anne M; Chiriboga, Claudia A; McDonald, Craig; Burnette, W Bryan; Werner, Klaus; Thangarajh, Mathula; Shieh, Perry B; Finanger, Erika; Cudkowicz, Merit E; McGovern, Michelle M; McNeil, D Elizabeth; Finkel, Richard; Iannaccone, Susan T; Kaye, Edward; Kingsley, Allison; Renusch, Samantha R; McGovern, Vicki L; Wang, Xueqian; Zaworski, Phillip G; Prior, Thomas W; Burghes, Arthur H M; Bartlett, Amy; Kissel, John T.

Ann Neurol; 82(6): 883-891, 2017 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-29149772

14.

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

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

Muscle Nerve; 58(5): 639-645, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30028519

15.

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.

Muscle Nerve; 57(4): 522-530, 2018 04.

Artículo en Inglés | MEDLINE | ID: mdl-29125635

16.

Reverse fiber type disproportion: A distinct metabolic myopathy.

Cooper, Christopher B; Dolezal, Brett A; Riley, Marshall; Verity, M Anthony; Shieh, Perry B.

Muscle Nerve; 54(1): 86-93, 2016 06.

Artículo en Inglés | MEDLINE | ID: mdl-26600317

17.

Amifampridine phosphate (Firdapse(®)) is effective and safe in a phase 3 clinical trial in LEMS.

Oh, Shin J; Shcherbakova, Natalya; Kostera-Pruszczyk, Anna; Alsharabati, Mohammad; Dimachkie, Mazen; Blanco, Jose Munoz; Brannagan, Thomas; Lavrnic, Dragana; Shieh, Perry B; Vial, Christophe; Meisel, Andreas; Komoly, Samuel; Schoser, Benedikt; Sivakumar, Kumaraswamy; So, Yuen.

Muscle Nerve; 53(5): 717-25, 2016 May.

Artículo en Inglés | MEDLINE | ID: mdl-26852139

18.

Duchenne muscular dystrophy: clinical trials and emerging tribulations.

Shieh, Perry B.

Curr Opin Neurol; 28(5): 542-6, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-26280938

19.

Metabolic Myopathies.

Adler, Margaret; Shieh, Perry B.

Semin Neurol; 35(4): 385-97, 2015 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-26502762

20.

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.

JAMA; 312(18): 1880-7, 2014 Nov 12.

Artículo en Inglés | MEDLINE | ID: mdl-25326637

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