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
Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
Whyte, Michael P, Greenberg, Cheryl R, Salman, Nada J, Bober, Michael B, McAlister, William H, Wenkert, Deborah, Van Sickle, Bradley J, Simmons, Jill H, Edgar, Terence S, Bauer, Martin L, Hamdan, Mohamed A, Bishop, Nick, Lutz, Richard E, McGinn, Mairead, Craig, Stanley, Moore, Jean N, Taylor, John W, Cleveland, Robert H, Cranley, William R, Lim, Ruth, Thacher, Tom D, Mayhew, Jill E, Downs, Matthew, Millán, José Luis, Skrinar, Alison M, Crine, Philippe, Landy, Hal
Published in The New England journal of medicine (08.03.2012)
Published in The New England journal of medicine (08.03.2012)
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Journal Article
Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
Evins, Ayla, Mayhew, Jill, Cimms, Tricia, Whyte, Julie, Vong, Kathy, Hribal, Elizabeth, Evans, Christopher J, Grimm, Andrew
Published in Therapeutic advances in endocrinology and metabolism (01.01.2024)
Published in Therapeutic advances in endocrinology and metabolism (01.01.2024)
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Journal Article
Clinical features of late-onset Pompe disease: A prospective cohort study
Wokke, John H.J., Escolar, Diana M., Pestronk, Alan, Jaffe, Kenneth M., Carter, Gregory T., van den Berg, Leonard H., Florence, Julaine M., Mayhew, Jill, Skrinar, Alison, Corzo, Deyanira, Laforet, Pascal
Published in Muscle & nerve (01.10.2008)
Published in Muscle & nerve (01.10.2008)
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Journal Article
Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII
Jones, Simon, Coker, Mahmut, López, Antonio González-Meneses, Sniadecki, Jennifer, Mayhew, Jill, Hensman, Pauline, Jurecka, Agnieszka
Published in Molecular genetics and metabolism reports (01.09.2021)
Published in Molecular genetics and metabolism reports (01.09.2021)
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Journal Article
Development and preliminary evidence of the psychometric properties of the GNE myopathy functional activity scale
Mayhew, Jill, Bonner, Nicola, Arbuckle, Rob, Turnbull, Alice, Bowden, Alexandra, Skrinar, Alison
Published in Journal of comparative effectiveness research (01.04.2018)
Published in Journal of comparative effectiveness research (01.04.2018)
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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
CINRG pilot trial of coenzyme Q10 in steroid-treated duchenne muscular dystrophy
Spurney, Christopher F., Rocha, Carolina Tesi, Henricson, Erik, Florence, Julaine, Mayhew, Jill, Gorni, Ksenija, Pasquali, Livia, Pestronk, Alan, Martin, Gerard R., Hu, Fengming, Nie, Lei, Connolly, Anne M., Escolar, Diana M.
Published in Muscle & nerve (01.08.2011)
Published in Muscle & nerve (01.08.2011)
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Journal Article
Characterization of Strength and Function in Ambulatory Adults With GNE Myopathy
Argov, Zohar, Bronstein, Faye, Esposito, Alicia, Feinsod-Meiri, Yael, Florence, Julaine M, Fowler, Eileen, Greenberg, Marcia B, Malkus, Elizabeth C, Rebibo, Odelia, Siener, Catherine S, Caraco, Yoseph, Kolodny, Edwin H, Lau, Heather A, Pestronk, Alan, Shieh, Perry, Skrinar, Alison M, Mayhew, Jill E
Published in Journal of clinical neuromuscular disease (01.09.2017)
Published in Journal of clinical neuromuscular disease (01.09.2017)
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Journal Article
CINRG pilot trial of oxatomide in steroid-naïve Duchenne muscular dystrophy
Buyse, Gunnar M, Goemans, Nathalie, Henricson, Erik, Jara, Alejandro, van den Hauwe, Marleen, Leshner, Robert, Florence, Julaine M, Mayhew, Jill E, Escolar, Diana M
Published in European journal of paediatric neurology (01.11.2007)
Published in European journal of paediatric neurology (01.11.2007)
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Journal Article
eP167: The impact of glycogen storage disease type III on children and adults: Results from an online survey
Mayhew, Jill, Evins, Ayla, Cimms, Tricia, Grimm, Andrew
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study
De Giorgis, Valentina, Bhatia, Kailash P., Boespflug‐Tanguy, Odile, Gras, Domitille, Marina, Adela Della, Desurkar, Archana, Toledo, Manuel, Miller, Ian, Rotstein, Michael, Schneider, Susanne A., Tarquinio, Daniel C., Weber, Yvonne, Brandabur, Melanie, Mayhew, Jill, Koutsoukos, Tony, De Vivo, Darryl C.
Published in Movement disorders (01.08.2024)
Published in Movement disorders (01.08.2024)
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Journal Article
PP531 Quality Of Life Of Patients With Long-Chain Fatty Acid Oxidation Disorders Before And During Treatment With Triheptanoin
Kruger, Eliza, Marsden, Deborah, Bensimon, Arielle, Cook, Erin, Orvis, Eli, Yang, Hongbo, Mayhew, Jill, Thomas, Nina
Published in International journal of technology assessment in health care (01.12.2020)
Published in International journal of technology assessment in health care (01.12.2020)
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Journal Article
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy
Escolar, Diana M., Buyse, Gunnar, Henricson, Erik, Leshner, Robert, Florence, Julaine, Mayhew, Jill, Tesi-Rocha, Carolina, Gorni, Ksenija, Pasquali, Livia, Patel, Kantilal M., McCarter, Robert, Huang, Jennifer, Mayhew, Thomas, Bertorini, Tulio, Carlo, Jose, Connolly, Anne M., Clemens, Paula R., Goemans, Nathalie, Iannaccone, Susan T., Igarashi, Masanori, Nevo, Yoram, Pestronk, Alan, Subramony, S. H., Vedanarayanan, V. V., Wessel, Henry
Published in Annals of neurology (01.07.2005)
Published in Annals of neurology (01.07.2005)
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Journal Article
Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy
Zimmerman, Angela, Clemens, Paula R., Tesi-Rocha, Carolina, Connolly, Anne, Iannaccone, Susan T., Kuntz, Nancy, Arrieta, Adrienne, Hache, Lauren, Henricson, Erik, Hu, Fengming, Mayhew, Jill, Escolar, Diana M.
Published in Muscle & nerve (01.08.2011)
Published in Muscle & nerve (01.08.2011)
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Journal Article