-
1دورية أكاديمية
المؤلفون: Byrne, Barry, Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Clemens, Paula, Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans, Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida, Johnson, Franklin, Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen
المصدر: Journal of Neurology. 271(4)
مصطلحات موضوعية: n-Butyldeoxynojirimycin, Alpha glucosidases, Glycogen storage disease type II, Lysosomal storage diseases, Myozyme, Pharmacokinetics, Adult, Humans, Glycogen Storage Disease Type II, Treatment Outcome, alpha-Glucosidases, Indoles, Enzyme Replacement Therapy, Propionates, 1-Deoxynojirimycin
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4639m33cTest
-
2دورية أكاديمية
المؤلفون: Dang, Utkarsh, Damsker, Jesse, Guglieri, Michela, Clemens, Paula, Perlman, Seth, Smith, Edward, Horrocks, Iain, Finkel, Richard, Mah, Jean, Deconinck, Nicolas, Goemans, Nathalie, Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin, Harper, Amy, Shieh, Perry, De Waele, Liesbeth, Castro, Diana, Yang, Michele, Ryan, Monique, Tulinius, Mar, Webster, Richard, Mcmillan, Hugh, Kuntz, Nancy, Rao, Vamshi, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie, Selby, Kathryn, Monduy, Migvis, Nevo, Yoram, Vilchez, Juan, Nascimento-Osorio, Andres, Niks, Erik, De Groot, Imelda, Katsalouli, Marina, Van Den Anker, John, Ward, Leanne, Leinonen, Mika, DAlessandro, Andrea, Hoffman, Eric, McDonald, Craig
المصدر: Neurology. 102(5)
مصطلحات موضوعية: Humans, Male, Biomarkers, Muscular Dystrophy, Duchenne, Prednisone, Pregnadienediols, Child, Preschool, Child
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4dd1d08dTest
-
3دورية أكاديمية
المؤلفون: Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, DAngelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, DAmico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, Hoffman, Eric, Pegoraro, Elena, McDonald, Craig
المصدر: Journal of Neuromuscular Diseases. 11(2)
مصطلحات موضوعية: Duchenne muscular dystrophy, LTBP4, dilated cardiomyopathy, genetic modifiers, glucocorticoid treatment, Humans, Dystrophin, Haplotypes, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Muscular Dystrophy, Duchenne, Cardiomyopathies, Protein Isoforms, Latent TGF-beta Binding Proteins
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5v7247q8Test
-
4دورية أكاديمية
المؤلفون: Clemens, Paula, Gordish-Dressman, Heather, Niizawa, Gabriela, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne, Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward, Kuntz, Nancy, Upadhyayula, S, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Iannaccone, Susan, Dang, Utkarsh, McDonald, Craig, Henricson, Erik
المصدر: Journal of Neuromuscular Diseases. 11(1)
مصطلحات موضوعية: Muscular dystrophies, dystrophin, muscle, natural history, skeletal, Adult, Adolescent, Humans, Child, Muscular Dystrophy, Duchenne, Prospective Studies, Cross-Sectional Studies, Phenotype, Myocardium
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9k77c2d2Test
-
5دورية أكاديمية
المؤلفون: Fang, Yuan, Clemens, Paula, Gordish, Heather-Dressman, Illei, Kate, Hoffman, Eric, Dang, Utkarsh, McDonald, Craig
المصدر: Journal of Neuromuscular Diseases. 10(3)
مصطلحات موضوعية: Duchenne muscular dystrophy, cluster analysis, early age outcomes, heterogeneity in progression, longitudinal trajectories, Male, Humans, Child, Muscular Dystrophy, Duchenne, Adrenal Cortex Hormones, Anti-Inflammatory Agents, Walking, Disease Progression
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/96z974v4Test
-
6دورية أكاديمية
المؤلفون: Smith, Edward, Zaidman, Craig, Nakagawa, Tomoyuki, Hoffman, Eric, Clemens, Paula, Rao, Vamshi, Connolly, Anne, Harper, Amy, Mah, Jean, McDonald, Craig
المصدر: Journal of Neuromuscular Diseases. 10(3)
مصطلحات موضوعية: Duchenne muscular dystrophy, clinical efficacy, dystrophin, exon skipping, viltolarsen, Male, Humans, Muscular Dystrophy, Duchenne, Dystrophin, Oligonucleotides, Glucocorticoids
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/57f918sqTest
-
7دورية أكاديمية
المؤلفون: Byrne, Barry J., Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Clemens, Paula R., Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans T., Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida R., Johnson, Franklin, Das, Sheela Sitaraman, Wasfi, Yasmine, Mozaffar, Tahseen
المصدر: Byrne , B J , Schoser , B , Kishnani , P S , Bratkovic , D , Clemens , P R , Goker-Alpan , O , Ming , X , Roberts , M , Vorgerd , M , Sivakumar , K , van der Ploeg , A T , Goldman , M , Wright , J , Holdbrook , F , Jain , V , Benjamin , E R , Johnson , F , Das , S S , Wasfi , Y & Mozaffar , T 2024 , ' Long-term safety and efficacy of cipaglucosidase alfa plus miglustat ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s00415-023-12096-0Test
https://pure.eur.nl/en/publications/1650e4fe-e335-4dd2-bde7-ae2621abef72Test
https://pure.eur.nl/ws/files/121767485/Long-term_safety_and_efficacy_of_cipaglucosidase_alfa_plus_miglustat_in_individuals_living_with_Pompe_disease.pdfTest
http://www.scopus.com/inward/record.url?scp=85178872458&partnerID=8YFLogxKTest -
8دورية أكاديمية
المؤلفون: Dang, Utkarsh J, Damsker, Jesse M, Guglieri, Michela, Clemens, Paula R, Perlman, Seth J, Smith, Edward C, Horrocks, Iain, Finkel, Richard S, Mah, Jean K, Deconinck, Nicolas, Goemans, Nathalie M, Haberlová, Jana, Straub, Volker, Mengle-Gaw, Laurel, Schwartz, Benjamin D, Harper, Amy, Shieh, Perry B, De Waele, Liesbeth, Castro, Diana, Yang, Michele L, Ryan, Monique M, McDonald, Craig M, Tulinius, Mar, Webster, Richard I, Mcmillan, Hugh J, Kuntz, Nancy, Rao, Vamshi K, Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M, Selby, Kathryn A, Monduy, Migvis, Nevo, Yoram, Vilchez, Juan J, Nascimento-Osorio, Andres, Niks, Erik H, De Groot, Imelda J M, Katsalouli, Marina, Van Den Anker, John N, Ward, Leanne M, Leinonen, Mika, D'Alessandro, Andrea L, Hoffman, Eric P
المصدر: Pharmacy Faculty Scholarship
وصف الملف: application/pdf
العلاقة: https://orb.binghamton.edu/pharmacy_fac/17Test; https://orb.binghamton.edu/context/pharmacy_fac/article/1018/viewcontent/WNL.0000000000208112.pdfTest
-
9دورية أكاديمية
المؤلفون: Hoffman, Eric, Gaglianone, Suzanne, Ketema, Rahel, Tu, Wangshu, Peay, Holly, Clemens, Paula, Dang, Utkarsh, Conklin, Laurie
المساهمون: National Institutes of Health
المصدر: BMJ Open ; volume 14, issue 3, page e080097 ; ISSN 2044-6055 2044-6055
-
10دورية أكاديمية
المؤلفون: Kishnani, Priya, Byrne, Barry, Claeys, Kristl, Clemens, Paula, Díaz-Manera, Jordi, Dimachkie, Mazen, Kushlaf, Hani, Mozaffar, Tahseen, Roberts, Mark, Toscano, Antonio, Hummel, Noemi, Holdbrook, Fred, Shohet, Simon, Schoser, Benedikt
المصدر: Genetics in Medicine Open ; volume 2, page 100905 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.100905Test
https://api.elsevier.com/content/article/PII:S2949774424000517?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424000517?httpAccept=text/plainTest