A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease
van der Ploeg, Ans T, Clemens, Paula R, Corzo, Deyanira, Escolar, Diana M, Florence, Julaine, Groeneveld, Geert Jan, Herson, Serge, Kishnani, Priya S, Laforet, Pascal, Lake, Stephen L, Lange, Dale J, Leshner, Robert T, Mayhew, Jill E, Morgan, Claire, Nozaki, Kenkichi, Park, Dorothy J, Pestronk, Alan, Rosenbloom, Barry, Skrinar, Alison, van Capelle, Carine I, van der Beek, Nadine A, Wasserstein, Melissa, Zivkovic, Sasa A
Published in The New England journal of medicine (15.04.2010)
Published in The New England journal of medicine (15.04.2010)
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Journal Article
Consensus treatment recommendations for late-onset Pompe disease
Cupler, Edward J., Berger, Kenneth I., Leshner, Robert T., Wolfe, Gil I., Han, Jay J., Barohn, Richard J., Kissel, John T.
Published in Muscle & nerve (01.03.2012)
Published in Muscle & nerve (01.03.2012)
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Journal Article
Feasibility and Reproducibility of Echocardiographic Measures in Children with Muscular Dystrophies
Spurney, Christopher F., MD, McCaffrey, Francis M., MD, Cnaan, Avital, PhD, Morgenroth, Lauren P., MS, Ghelani, Sunil J., MD, Gordish-Dressman, Heather, MD, PhD, Arrieta, Adrienne, MS, Connolly, Anne M., MD, Lotze, Timothy E., MD, McDonald, Craig M., MD, Leshner, Robert T., MD, Clemens, Paula R., MD
Published in Journal of the American Society of Echocardiography (01.08.2015)
Published in Journal of the American Society of Echocardiography (01.08.2015)
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Journal Article
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Hogarth, Marshall W., Houweling, Peter J., Thomas, Kristen C., Gordish-Dressman, Heather, Bello, Luca, Pegoraro, Elena, Hoffman, Eric P., Head, Stewart I., North, Kathryn N.
Published in Nature communications (31.01.2017)
Published in Nature communications (31.01.2017)
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Journal Article
Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy
Mayhew, Jill E., Florence, Julaine M., Mayhew, Thomas P., Henricson, Erik K., Leshner, Robert T., McCarter, Robert J., Escolar, Diana M.
Published in Muscle & nerve (01.01.2007)
Published in Muscle & nerve (01.01.2007)
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Journal Article
The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
van Capelle, Carine I., van der Beek, Nadine A. M. E., de Vries, Juna M., van Doorn, Pieter A., Duivenvoorden, Hugo J., Leshner, Robert T., Hagemans, Marloes L. C., van der Ploeg, Ans T.
Published in Journal of inherited metabolic disease (01.03.2012)
Published in Journal of inherited metabolic disease (01.03.2012)
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Journal Article
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Lee, Angela J, Jones, Karra A, Butterfield, Russell J, Cox, Mary O, Konersman, Chamindra G, Grosmann, Carla, Abdenur, Jose E, Boyer, Monica, Beson, Brent, Wang, Ching, Dowling, James J, Gibbons, Melissa A, Ballard, Alison, Janas, Joanne S, Leshner, Robert T, Donkervoort, Sandra, Bönnemann, Carsten G, Malicki, Denise M, Weiss, Robert B, Moore, Steven A, Mathews, Katherine D
Published in Neurology. Genetics (01.04.2019)
Published in Neurology. Genetics (01.04.2019)
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Journal Article
Isolated Cranial Nerve Enhancement in Metachromatic Leukodystrophy
Singh, Rani K., MD, Leshner, Robert T., MD, Kadom, Nadja, MD, Vanderver, Adeline L., MD
Published in Pediatric neurology (01.05.2009)
Published in Pediatric neurology (01.05.2009)
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Journal Article
Antiretroviral Therapy-Associated Acute Motor and Sensory Axonal Neuropathy
Capers, Kimberly N., Turnacioglu, Sinan, Leshner, Robert T., Crawford, John R.
Published in Case reports in neurology (11.01.2011)
Published in Case reports in neurology (11.01.2011)
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Journal Article
Acute Pediatric Rhabdomyolysis
Watemberg, Nathan, Leshner, Robert L., Armstrong, Brent A., Lerman-Sagie, Tally
Published in Journal of child neurology (01.04.2000)
Published in Journal of child neurology (01.04.2000)
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Journal Article
Respiratory failure as a first presentation of myasthenia gravis
Qureshi, Adnan I, Choundry, Mohammad A, Mohammad, Yousef, Chua, Hoe C, Yahia, Abutaher M, Ulatowski, John A, Krendel, David A, Leshner, Robert T
Published in Medical science monitor (01.12.2004)
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Published in Medical science monitor (01.12.2004)
Journal Article
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
McDonald, Craig M, Henricson, Erik K, Abresch, Richard T, Duong, Tina, Joyce, Nanette C, Hu, Fengming, Clemens, Paula R, Hoffman, Eric P, Cnaan, Avital, Gordish-Dressman, Heather, Vishwanathan, Vijay, Chidambaranathan, S, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, Tesi-Rocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorin, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M.
Published in The Lancet (British edition) (03.02.2018)
Published in The Lancet (British edition) (03.02.2018)
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Journal Article
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
Henricson, Erik K., Abresch, R. Ted, Cnaan, Avital, Hu, Fengming, Duong, Tina, Arrieta, Adrienne, Han, Jay, Escolar, Diana M., Florence, Julaine M., Clemens, Paula R., Hoffman, Eric P., McDonald, Craig M.
Published in Muscle & nerve (01.07.2013)
Published in Muscle & nerve (01.07.2013)
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Journal Article
Intraoperative Pediatric Laryngeal Electromyography: Experience and Caveats with Monopolar Electrodes
Wohl, Daniel L., Kilpatrick, Jefferson K., Leshner, Robert T., Shaia, Wayne T.
Published in Annals of otology, rhinology & laryngology (01.06.2001)
Published in Annals of otology, rhinology & laryngology (01.06.2001)
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Journal Article
Conference Proceeding
The cooperative international neuromuscular research group duchenne natural history study-a longitudinal investigation in the era of glucocorticoid therapy: Design of protocol and the methods used
McDonald, Craig M., Henricson, Erik K., Abresch, R. Ted, Han, Jay J., Escolar, Diana M., Florence, Julaine M., Duong, Tina, Arrieta, Adrienne, Clemens, Paula R., Hoffman, Eric P., Cnaan, Avital
Published in Muscle & nerve (01.07.2013)
Published in Muscle & nerve (01.07.2013)
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Journal Article
Diagnostic criteria for late-onset (childhood and adult) pompe disease
Published in Muscle & nerve
(01.07.2009)
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Journal Article
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
Bello, Luca, Flanigan, Kevin M., Weiss, Robert B., Dunn, Diane M., Swoboda, Kathryn J., Gappmaier, Eduard, Howard, Michael T., Sampson, Jacinda B., Bromberg, Mark B., Butterfield, Russell, Kerr, Lynne, Pestronk, Alan, Florence, Julaine M., Connolly, Anne, Lopate, Glenn, Golumbek, Paul, Schierbecker, Jeanine, Malkus, Betsy, Renna, Renee, Siener, Catherine, Finkel, Richard S., Bonnemann, Carsten G., Medne, Livija, Glanzman, Allan M., Flickinger, Jean, Mendell, Jerry R., King, Wendy M., Lowes, Linda, Alfano, Lindsay, Mathews, Katherine D., Stephan, Carrie, Laubenthal, Karla, Baldwin, Kris, Wong, Brenda, Morehart, Paula, Meyer, Amy, Day, John W., Naughton, Cameron E., Margolis, Marcia, Spitali, Pietro, Aartsma-Rus, Annemieke, Muntoni, Francesco, Zaharieva, Irina, Ferlini, Alessandra, Mercuri, Eugenio, Tuffery-Giraud, Sylvie, Claustres, Mireille, Straub, Volker, Lochmüller, Hanns, Barp, Andrea, Vianello, Sara, Pegoraro, Elena, Punetha, Jaya, Gordish-Dressman, Heather, Giri, Mamta, McDonald, Craig M., Hoffman, Eric P., Cnaan, Avital, Abresch, Richard T., Henricson, Erik K., Morgenroth, Lauren P., Duong, Tina, Chidambaranathan, V. Viswanathan, Biggar, W. Douglas, McAdam, Laura C., Mah, Jean, Tulinius, Mar, Leshner, Robert, Rocha, Carolina Tesi, Thangarajh, Mathula, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Teasley, Jean, Bertorini, Tulio E., North, Kathryn, Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Karachunski, Peter, Bodensteiner, John B.
Published in American journal of human genetics (03.11.2016)
Published in American journal of human genetics (03.11.2016)
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Journal Article
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M, Hoffman, Eric P, Koeks, Zaida, Eka Suchiman, H, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A C, Niks, Erik H, Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
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Journal Article
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial
Mah, Jean K, Clemens, Paula R, Guglieri, Michela, Smith, Edward C, Finkel, Richard S, Tulinius, Mar, Nevo, Yoram, Ryan, Monique M, Webster, Richard, Castro, Diana, Kuntz, Nancy L, McDonald, Craig M, Damsker, Jesse M, Schwartz, Benjamin D, Mengle-Gaw, Laurel J, Jackowski, Stefan, Stimpson, Georgia, Ridout, Deborah A, Ayyar-Gupta, Vandana, Baranello, Giovanni, Manzur, Adnan Y, Muntoni, Francesco, Gordish-Dressman, Heather, Leinonen, Mika, Ward, Leanne M, Hoffman, Eric P, Dang, Utkarsh J
Published in JAMA network open (04.01.2022)
Published in JAMA network open (04.01.2022)
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Journal Article
Rasch Analysis of the Pediatric Quality of Life Inventory 4.0 Generic Core Scales Administered to Patients With Duchenne Muscular Dystrophy
Landfeldt, Erik, Iff, Joel, Henricson, Erik, Vishwanathan, V., Chidambaranathan, S., Biggar, W. Douglas, McAdam, Laura C., Mah, Jean K., Tulinius, Mar, Cnaan, Avital, Morgenroth, Lauren P., Leshner, Robert, TesiRocha, Carolina, Thangarajh, Mathula, Duong, Tina, Kornberg, Andrew, Ryan, Monique, Nevo, Yoram, Dubrovsky, Alberto, Clemens, Paula R., Abdel-Hamid, Hoda, Connolly, Anne M., Pestronk, Alan, Teasley, Jean, Bertorini, Tulio E., Webster, Richard, Kolski, Hanna, Kuntz, Nancy, Driscoll, Sherilyn, Bodensteiner, John B., Carlo, Jose, Gorni, Ksenija, Lotze, Timothy, Day, John W., Karachunski, Peter, Henricson, Erik K., Abresch, Richard T., Joyce, Nanette C., McDonald, Craig M.
Published in Value in health (01.10.2021)
Published in Value in health (01.10.2021)
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