نتائج البحث - "Vilchez-Padilla, Juan"

1

دورية أكاديمية

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy.

المصدر: Muscle and Nerve. 66(1)

مصطلحات موضوعية: FSHD, controlled trial, facioscapulohumeral muscular dystrophy, randomized, Adolescent, Adult, Cytomegalovirus Infections, Humans, Magnetic Resonance Imaging, Muscle Contraction, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4rb044kbTest

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2

دورية أكاديمية

Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene

المؤلفون: Martí Pérez, Salvador, León Rodríguez, Marian, Orellana Alonso, Carmen, Prieto Martínez, Javier, Ponsoda i Martí, Xavier, López García, Carlos, Vílchez Padilla, Juan Jesús, Sevilla Mantecón, Teresa, Torres Ibáñez, José Manuel

مصطلحات موضوعية: Cèl·lules, Sistema nerviós Malalties

وصف الملف: application/pdf

العلاقة: Stem Cell Research, 2017, vol. 18, p. 1-4; Martí Pérez, Salvador León Rodríguez, Marian Orellana Alonso, Carmen Prieto Martínez, Javier Ponsoda i Martí, Xavier López García, Carlos Vílchez Padilla, Juan Jesús Sevilla Mantecón, Teresa Torres Ibáñez, José Manuel 2017 Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene Stem Cell Research 18 1 4; https://hdl.handle.net/10550/84235Test; 115301

الإتاحة: https://doi.org/10.1016/j.scr.2016.11.017Test
https://hdl.handle.net/10550/84235Test

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3

دورية أكاديمية

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy

المساهمون: Neurology, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy, FSHD, Randomized, Controlled trial

وصف الملف: application/pdf

العلاقة: Muscle & Nerve; Statland JM, Campbell C, Desai U, et al. Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2022;66(1):50-62. doi:10.1002/mus.27558; https://hdl.handle.net/1805/34597Test

الإتاحة: https://doi.org/10.1002/mus.27558Test
https://hdl.handle.net/1805/34597Test

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4

دورية أكاديمية

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy ; A Randomized Clinical Trial

المؤلفون: Guglieri, Michela, Clemens, Paula R., Perlman, Seth J., Smith, Edward C., Horrocks, Iain, Finkel, Richard S., Mah, Jean K., Deconinck, Nicolas, Goemans, Nathalie, Haberlova, Jana, Straub, Volker, Mengle-Gaw, Laurel J., Schwartz, Benjamin D., Harper, Amy D., Shieh, Perry B., De Waele, Liesbeth, Castro, Diana, Yang, Michelle L., Ryan, Monique M., McDonald, Craig M., Tulinius, Mar, Webster, Richard, McMillan, Hugh J., Kuntz, Nancy L., Rao, Vashmi K., Baranello, Giovanni, Spinty, Stefan, Childs, Anne-Marie, Sbrocchi, Annie M., Selby, Kathryn A., Monduy, Migvis, Nevo, Yoram, Vilchez-Padilla, Juan J., Nascimento-Osorio, Andres, Niks, Erik H., de Groot, Imelda J.M., Katsalouli, Marina, James, Meredith K., van den Anker, Johannes, Damsker, Jesse M., Ahmet, Alexandra, Ward, Leanne M., Jaros, Mark, Shale, Phil, Dang, Utkarsh J., Hoffman, Eric P.

المصدر: JAMA Neurology ; volume 79, issue 10, page 1005 ; ISSN 2168-6149

الإتاحة: https://doi.org/10.1001/jamaneurol.2022.2480Test
https://jamanetwork.com/journals/jamaneurology/articlepdf/2795868/jamaneurology_guglieri_2022_oi_220049_1664471626.01632.pdfTest

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5

دورية أكاديمية

Guía clínica de la enfermedad de Pompe de inicio tardío ; Clinical guidelines for late-onset Pompe disease

المؤلفون: Barba-Romero, Miguel A., Barrot, Emilia, Bautista-Lorite, Juan, Gutiérrez-Rivas, Eduardo, Illa, Isabel, Jiménez, Luis M., Ley-Martos, Myriam, López de Munain, Adolfo, Pardo, Julio, Pascual-Pascual, S. I., Pérez-López, Jordi, Solera, Jesús, Vílchez-Padilla, Juan J.

المساهمون: UAM. Departamento de Pediatría

مصطلحات موضوعية: Alfa-glucosidasa, Análisis mutacional, Enfermedad de Pompe, Inicio tardío, Muestra en sangre seca (DBS), Terapia de sustitución enzimática, Medicina

وصف الملف: application/pdf

العلاقة: Revista de Neurología; Revista de Neurologia 54.8 (2012): 497-507; 0210-0010 (print); 1576-6578 (online); http://hdl.handle.net/10486/668772Test; 497; 507; 54

الإتاحة: http://hdl.handle.net/10486/668772Test

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