المؤلفون: 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.

المساهمون: Acceleron

المصدر: Muscle & Nerve ; volume 66, issue 1, page 50-62 ; ISSN 0148-639X 1097-4598

الإتاحة: https://doi.org/10.1002/mus.27558Test

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

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

المؤلفون: Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco

المساهمون: Instituto de Salud Carlos III

المصدر: Clinical Genetics ; volume 101, issue 2, page 233-241 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.14093Test

المؤلفون: Marco‐Hernández, Ana Victoria, Tomás‐Vila, Miguel, Montoya‐Filardi, Alejandro, Barranco‐González, Honorio, Vilchez Padilla, Juan Jesus, Azorín, Inmaculada, Smeyers Dura, Patricia, Monfort‐Membrado, Sandra, Pitarch‐Castellano, Inmaculada, Martínez‐Castellano, Francisco

المصدر: Clinical Genetics; Feb2022, Vol. 101 Issue 2, p233-241, 9p

مصطلحات موضوعية: GENETIC variation, MITOCHONDRIA, NEUROPATHY, BRAIN diseases, GENETIC code, MITOCHONDRIAL membranes

المؤلفون: Cervera-Deval, Juan, Morant-Guillen, Maria P., Fenollosa-Vasquez, Pedro, Serra-Escorihuela, Margarita, Vilchez-Padilla, Juan, Burguera, Juan

المصدر: Archives of Physical Medicine and Rehabilitation ; volume 75, issue 11, page 1223-1227 ; ISSN 0003-9993

مصطلحات موضوعية: Rehabilitation, Physical Therapy, Sports Therapy and Rehabilitation

الإتاحة: https://doi.org/10.1016/0003-9993Test(94)90009-4
https://api.elsevier.com/content/article/PII:0003999394900094?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:0003999394900094?httpAccept=text/plainTest

المؤلفون: Martínez Torres, Irene

المساهمون: Vílchez Padilla, Juan Jesús, Limousin, Patricia, Departament de Medicina

مصطلحات موضوعية: enfermedad de Parkinson, estimulación cerebral profunda, nucleo subtalámico, UNESCO::CIENCIAS MÉDICAS

وصف الملف: 254 p.

العلاقة: http://hdl.handle.net/10550/38907Test

الإتاحة: http://hdl.handle.net/10550/38907Test