المؤلفون: Mayhew A. G., James M. K., Moore U., Sutherland H., Jacobs M., Feng J., Lowes L. P., Alfano L. N., Muni Lofra R., Rufibach L. E., Rose K., Duong T., Bello L., Pedrosa-Hernandez I., Holsten S., Sakamoto C., Canal A., Sanchez-Aguilera Praxedes N., Thiele S., Siener C., Vandevelde B., DeWolf B., Maron E., Gordish-Dressman H., Hilsden H., Guglieri M., Hogrel J. -Y., Blamire A. M., Carlier P. G., Spuler S., Day J. W., Jones K. J., Bharucha-Goebel D. X., Salort-Campana E., Pestronk A., Walter M. C., Paradas C., Stojkovic T., Mori-Yoshimura M., Bravver E., Diaz-Manera J., Pegoraro E., Mendell J. R., Jain COS Consortium, Straub V.

المساهمون: Mayhew, A. G., James, M. K., Moore, U., Sutherland, H., Jacobs, M., Feng, J., Lowes, L. P., Alfano, L. N., Muni Lofra, R., Rufibach, L. E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernandez, I., Holsten, S., Sakamoto, C., Canal, A., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Vandevelde, B., Dewolf, B., Maron, E., Gordish-Dressman, H., Hilsden, H., Guglieri, M., Hogrel, J. -Y., Blamire, A. M., Carlier, P. G., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., Jain COS, Consortium, Straub, V.

مصطلحات موضوعية: clinical outcome assessment, dysferlinopathy, limb girdle muscular dystrophy, PROM, quality of life

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35359643; info:eu-repo/semantics/altIdentifier/wos/WOS:000785348200001; volume:13; firstpage:828525; numberofpages:13; journal:FRONTIERS IN NEUROLOGY; http://hdl.handle.net/11577/3443657Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127415774

الإتاحة: https://doi.org/10.3389/fneur.2022.828525Test
http://hdl.handle.net/11577/3443657Test

المؤلفون: Mayhew, Anna G., James, Meredith K., Moore, Ursula, Sutherland, Helen, Jacobs, Marni, Feng, Jia, Lowes, Linda Pax, Alfano, Lindsay N., Muni Lofra, Robert, Rufibach, Laura E., Rose, Kristy, Duong, Tina, Bello, Luca, Pedrosa-Hernández, Irene, Holsten, S., Sakamoto, C., Canal, Aurélie, Sánchez-Aguilera Práxedes, N., Thiele, S., Siener, C., Vandevelde, B., DeWolf, Brittney, Maron, E., Gordish-Dressman, H., Hilsden, H., Guglieri, M., Hogrel, J.Y., Blamire, Andrew, Carlier, Pierre G., Spuler, S., Day, John W., Jones, K.J., Bharucha-Goebel, Diana, Salort-Campana, E., Pestronk, Alan, Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, Madoka, Bravver, Elena, Diaz-Manera, Jordi, Pegoraro, Elena, Mendell, J. R., Jain COS Consortium, None, Straub, V.

مصطلحات موضوعية: Limb girdle muscular dystrophy, Dysferlinopathy, PROMs, Quality of life, Clinical outcome assessments

وصف الملف: application/pdf

العلاقة: Frontiers in neurology; Vol. 13 (october 2022), p. 828525; https://ddd.uab.cat/record/284168Test; urn:10.3389/fneur.2022.828525; urn:oai:ddd.uab.cat:284168; urn:scopus_id:85127415774; urn:articleid:16642295v13p828525; urn:pmid:35359643; urn:pmc-uid:8961025; urn:pmcid:PMC8961025; urn:oai:pubmedcentral.nih.gov:8961025

الإتاحة: https://ddd.uab.cat/record/284168Test

المؤلفون: Jacobs M. B., James M. K., Lowes L. P., Alfano L. N., Eagle M., Muni Lofra R., Moore U., Feng J., Rufibach L. E., Rose K., Duong T., Bello L., Pedrosa-Hernandez I., Holsten S., Sakamoto C., Canal A., Sanchez-Aguilera Praxedes N., Thiele S., Siener C., Vandevelde B., DeWolf B., Maron E., Guglieri M., Hogrel J. -Y., Blamire A. M., Carlier P. G., Spuler S., Day J. W., Jones K. J., Bharucha-Goebel D. X., Salort-Campana E., Pestronk A., Walter M. C., Paradas C., Stojkovic T., Mori-Yoshimura M., Bravver E., Diaz-Manera J., Pegoraro E., Mendell J. R., Mayhew A. G., Straub V.

المساهمون: Jacobs, M. B., James, M. K., Lowes, L. P., Alfano, L. N., Eagle, M., Muni Lofra, R., Moore, U., Feng, J., Rufibach, L. E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernandez, I., Holsten, S., Sakamoto, C., Canal, A., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Vandevelde, B., Dewolf, B., Maron, E., Guglieri, M., Hogrel, J. -Y., Blamire, A. M., Carlier, P. G., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., Mayhew, A. G., Straub, V.

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Child, Clinical Trials as Topic, Cohort Studie, Disease Progression, Female, Human, Longitudinal Studie, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Psychometric, Treatment Outcome, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33576057; info:eu-repo/semantics/altIdentifier/wos/WOS:000621809900001; volume:89; issue:5; firstpage:967; lastpage:978; numberofpages:12; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11577/3395004Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101597341

الإتاحة: https://doi.org/10.1002/ana.26044Test
http://hdl.handle.net/11577/3395004Test

المؤلفون: Jacobs, M.B., James, Meredith K, Lowes, Linda P, Alfano, Lindsay N, Eagle, M., Muni Lofra, R., Moore, U., Feng, J., Rufibach, L.E., Rose, K., Duong, T., Bello, Luca, Pedrosa-Hernández, Irene, Holsten, Scott, Sakamoto, C., Canal, Aurélie, Sanchez-Aguilera Práxedes, N., Thiele, S., Siener, C., Vandevelde, B., DeWolf, Brittney, Maron, E., Guglieri, M., Hogrel, J.Y., Blamire, Andrew, Carlier, Pierre G, Spuler, S., Day, John W, Jones, K.J., Bharucha-Goebel, Diana, Salort-Campana, E., Pestronk, Alan, Walter, Maggie C, Paradas, C., Stojkovic, T., Mori-Yoshimura, Madoka, Bravver, Elena, Diaz-Manera, Jordi, Pegoraro, Elena, Mendell, J. R., Mayhew, A.G., Straub, Volker

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Aged, 80 and over, Child, Clinical Trials as Topic, Cohort Studies, Disease Progression, Female, Humans, Longitudinal Studies, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Psychometrics, Treatment Outcome, Young Adult

وصف الملف: application/pdf

العلاقة: Annals of neurology; Vol. 89 Núm. 5 (may 2021), p. 967-978; https://ddd.uab.cat/record/271994Test; urn:10.1002/ana.26044; urn:oai:ddd.uab.cat:271994; urn:scopus_id:85101597341; urn:pmid:33576057; urn:articleid:15318249v89n5p967

الإتاحة: https://ddd.uab.cat/record/271994Test

المؤلفون: Moore U., Jacobs M., James M. K., Mayhew A. G., Fernandez-Torron R., Feng J., Cnaan A., Eagle M., Bettinson K., Rufibach L. E., Lofra R. M., Blamire A. M., Carlier P. G., Mittal P., Lowes L. P., Alfano L., Rose K., Duong T., Berry K. M., Montiel-Morillo E., Pedrosa-Hernandez I., Holsten S., Sanjak M., Ashida A., Sakamoto C., Tateishi T., Yajima H., Canal A., Ollivier G., Decostre V., Mendez J. B., Praxedes N. S. -A., Thiele S., Siener C., Shierbecker J., Florence J. M., Vandevelde B., Dewolf B., Hutchence M., Gee R., Prugel J., Maron E., Hilsden H., Lochmuller H., Grieben U., Spuler S., Rocha C. T., Day J. W., Jones K. J., Bharucha-Goebel D. X., Salort-Campana E., Harms M., Pestronk A., Krause S., Schreiber-Katz O., Walter M. C., Paradas C., Hogrel J. -Y., Stojkovic T., Takeda S., Mori-Yoshimura M., Bravver E., Sparks S., Diaz-Manera J., Bello L., Semplicini C., Pegoraro E., Mendell J. R., Bushby K., Straub V.

المساهمون: Moore, U., Jacobs, M., James, M. K., Mayhew, A. G., Fernandez-Torron, R., Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L. E., Lofra, R. M., Blamire, A. M., Carlier, P. G., Mittal, P., Lowes, L. P., Alfano, L., Rose, K., Duong, T., Berry, K. M., Montiel-Morillo, E., Pedrosa-Hernandez, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J. B., Praxedes, N. S. -A., Thiele, S., Siener, C., Shierbecker, J., Florence, J. M., Vandevelde, B., Dewolf, B., Hutchence, M., Gee, R., Prugel, J., Maron, E., Hilsden, H., Lochmuller, H., Grieben, U., Spuler, S., Rocha, C. T., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Harms, M., Pestronk, A., Krause, S., Schreiber-Katz, O., Walter, M. C., Paradas, C., Hogrel, J. -Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, E., Sparks, S., Diaz-Manera, J., Bello, L., Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, K., Straub, V.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30626655; info:eu-repo/semantics/altIdentifier/wos/WOS:000462547500007; volume:92; issue:5; firstpage:E461; lastpage:E474; journal:NEUROLOGY; http://hdl.handle.net/11577/3330170Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065551123; http://www.neurology.orgTest

الإتاحة: https://doi.org/10.1212/WNL.0000000000006858Test
http://hdl.handle.net/11577/3330170Test
http://www.neurology.orgTest

المؤلفون: James, M., Dressman, H. Gordish, Hilsden, H., Rufibach, L., Human, A., Duong, T., Maron, E., DeWolf, B., Rose, K., Siener, C., Thiele, S., Sanchez-Aguilera Praxedes, N., Canal, A., Holsten, S., Sakamoto, C., Pedrosa-Hernandez, I., Bello, L., Alfano, L., Lowes, L. Pax, Straub, V., Mayhew, A.

المساهمون: James, M. Newcastle Univ & Newcastle Hosp, Newcastle Upon Tyne, Tyne & Wear, England, Mayhew, A. Newcastle Univ & Newcastle Hosp, Newcastle Upon Tyne, Tyne & Wear, England, Dressman, H. Gordish Natl Childrens Hosp, Washington, DC USA, Hilsden, H. Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England, Straub, V. Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England, Rufibach, L. Jain Fdn, Seattle, WA USA, Human, A. Univ Pretoria, Pretoria, South Africa, Duong, T. Stanford Univ, Palo Alto, CA USA, Maron, E. ELAN PHYSIO, Berlin, Germany, DeWolf, B. Childrens Natl Hlth Syst, Washington, DC USA, Rose, K. Childrens Hosp Westmead, Sydney, NSW, Australia, Siener, C. Washington Univ, Sch Med, St Louis, MO USA, Thiele, S. Ludwig Maximilians Univ Munchen, Munich, Germany, Sanchez-Aguilera Praxedes, N. Hosp Univ Virgen Del Rocio, Seville, Spain, Canal, A. Inst Myol, Paris, France, Holsten, S. Carolinas HealthCare Syst, Charlotte, NC USA, Sakamoto, C. NCNP, Tokyo, Japan, Pedrosa-Hernandez, I. Hosp Santa Creu & Sant Pau, Barcelona, Spain, Bello, L. Univ Padua, Padua, Italy, Alfano, L. Nationwide Childrens Hosp, Columbus, OH USA, Lowes, L. Pax Nationwide Childrens Hosp, Columbus, OH USA

العلاقة: http://hdl.handle.net/10668/22432Test; 873062200296

الإتاحة: https://doi.org/10.1016/j.nmd.2022.07.300Test
http://hdl.handle.net/10668/22432Test

المؤلفون: Hoffman, EP, Schwartz, BD, Mengle-Gaw, LJ, Smith, EC, Castro, D, Mah, JK, McDonald, CM, Kuntz, NL, Finkel, RS, Guglieri, M, Bushby, K, Tulinius, M, Nevo, Y, Ryan, MM, Webster, R, Smith, AL, Morgenroth, LP, Arrieta, A, Shimony, M, Siener, C, Jaros, M, Shale, P, McCall, JM, Nagaraju, K, van den Anker, J, Conklin, LS, Cnaan, A, Gordish-Dressman, H, Damsker, JM, Clemens, PR

العلاقة: pii: WNL.0000000000008168; Hoffman, E. P., Schwartz, B. D., Mengle-Gaw, L. J., Smith, E. C., Castro, D., Mah, J. K., McDonald, C. M., Kuntz, N. L., Finkel, R. S., Guglieri, M., Bushby, K., Tulinius, M., Nevo, Y., Ryan, M. M., Webster, R., Smith, A. L., Morgenroth, L. P., Arrieta, A., Shimony, M. ,. Clemens, P. R. (2019). Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function. NEUROLOGY, 93 (13), pp.E1312-E1323. https://doi.org/10.1212/WNL.0000000000008168Test.; http://hdl.handle.net/11343/246542Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000008168Test
http://hdl.handle.net/11343/246542Test

المؤلفون: Finkel, RS, Mercuri, E, Darras, BT, Connolly, AM, Kuntz, NL, Kirschner, J, Chiriboga, CA, Saito, K, Servais, L, Tizzano, E, Topaloglu, H, Tulinius, M, Montes, J, Glanzman, AM, Bishop, K, Zhong, ZJ, Gheuens, S, Bennett, CF, Schneider, E, Farwell, W, De Vivo, DC, Bradley, WG, Schroth, MK, Bodensteriner, JB, Davis, CS, Shell, R, Hen, J, Austin, ED, Aziz-Zaman, S, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Gormley, M, Holuba La Marca, N, Khandji, A, Kramer, S, Marra, J, Ortiz-Miller, C, Popolizio, M, Salazar, R, Sanabria, L, Weimer, L, Anand, P, Gadeken, R, Golumbek, PT, Siener, C, Zaidman, CM, Al-Ghamdi, F, Berde, C, Ghosh, P, Graham, R, Harrington, T, Koka, A, Laine, R, Liew, W, Mirek, E, Ordonez, G, Pasternak, A, Quigley, J, Sethna, N, Souris, M, Szelag, H, Wand, L, Day, JW, D'Souza, G, Duong, TT, Gee, R, Kitsuwa-Lowe, J, McFall, D, Patnaik, S, Paulose, S, Perez, J, Proud, C, Purse, B, Ramamurthi, RJ, Sakamuri, S, Sampson, J, Sanjanwala, B, Tesi Rocha, AC, Watson, K, Welsh, L, Pena, LDM, Case, L, Coates, J, DeArmey, S, Homi, MM, Milleson, C, Nelson, N, Ross, A, Smith, E, Taicher, B, Wootton, J, Finanger, E, Benjamin, D, Frank, A, Roberts, C, Russman, B, Farrar, Michelle, Kandula, Tejaswi

المصدر: urn:ISSN:0028-4793 ; urn:ISSN:1533-4406 ; New England Journal of Medicine, 377, 18, 1723-1732

مصطلحات موضوعية: Brain Disorders, Pediatric, Clinical Research, Neurosciences, Genetics, Clinical Trials and Supportive Activities, Orphan Drug, Spinal Muscular Atrophy, Neurodegenerative, Patient Safety, Rare Diseases, Neurological, 3 Good Health and Well Being, Age of Onset, Disease-Free Survival, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Male, Motor Skills, Oligonucleotides, Antisense, RNA, Messenger, Respiration, Artificial, Spinal Muscular Atrophies of Childhood

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_49227Test; https://unsworks.unsw.edu.au/bitstreams/8464c3c3-9df7-43a0-be50-b5125661ad27/downloadTest; https://doi.org/10.1056/NEJMoa1702752Test

الإتاحة: https://doi.org/10.1056/NEJMoa1702752Test
http://hdl.handle.net/1959.4/unsworks_49227Test
https://unsworks.unsw.edu.au/bitstreams/8464c3c3-9df7-43a0-be50-b5125661ad27/downloadTest

المؤلفون: James, M., Dressman, H. Gordish, Hilsden, H., Rufibach, L., Human, A., Duong, T., Maron, E., DeWolf, B., Rose, K., Siener, C., Thiele, S., Práxedes, N. Sánchez-Aguilera, Canal, A., Holsten, S., Sakamoto, C., Pedrosa-Hernández, I., Bello, L., Alfano, L., Lowes, L. Pax, Straub, V., Mayhew, A.

المصدر: Neuromuscular Disorders ; volume 32, page S114 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2022.07.300Test
https://api.elsevier.com/content/article/PII:S0960896622005028?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896622005028?httpAccept=text/plainTest

المؤلفون: Mayhew, A. G., James, M. K., Moore, U., Sutherland, H., Jacobs, M., Feng, J., Lowes, L. P., Alfano, L. N., Muni Lofra, R., Rufibach, L. E., Rose, K., Duong, T., Bello, L., Pedrosa-Hernandez, I., Holsten, S., Sakamoto, C., Canal, A., Sanchez-Aguilera Praxedes, N., Thiele, S., Siener, C., Vandevelde, B., Dewolf, B., Maron, E., Gordish-Dressman, H., Hilsden, H., Guglieri, M., Hogrel, J. -Y., Blamire, A. M., Carlier, P. G., Spuler, S., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, E., Pestronk, A., Walter, M. C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz-Manera, J., Pegoraro, E., Mendell, J. R., Jain COS Consortium, Straub, V.

المساهمون: Jain Foundation, John Walton Centre Muscular Dystrophy Research Centre, MRC Centre Neuromuscular Biobank (UK)

مصطلحات موضوعية: PROMs, Neurology, quality of life, Neurology (clinical), clinical outcome assessments, dysferlinopathy, limb girdle muscular dystrophy, Function and Dysfunction of the Nervous System

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0372f0afd35e5b3c88a636fb40b4f22Test
http://hdl.handle.net/11577/3443657Test