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1Academic Journal
المؤلفون: Guglieri M., Bushby K., McDermott M. P., Hart K. A., Tawil R., Martens W. B., Herr B. E., McColl E., Speed C., Wilkinson J., Kirschner J., King W. M., Eagle M., Brown M. W., Willis T., Griggs R. C., Straub V., van Ruiten H., Childs A. -M., Ciafaloni E., Shieh P. B., Spinty S., Maggi L., Baranello G., Butterfield R. J., Horrocks I. A., Roper H., Alhaswani Z., Flanigan K. M., Kuntz N. L., Manzur A., Darras B. T., Kang P. B., Morrison L., Krzesniak-Swinarska M., Mah J. K., Mongini T. E., Ricci F., von der Hagen M., Finkel R. S., O'Reardon K., Wicklund M., Kumar A., McDonald C. M., Han J. J., Joyce N., Henricson E. K., Schara-Schmidt U., Gangfuss A., Wilichowski E., Barohn R. J., Statland J. M., Campbell C., Vita G., Vita G. L., Howard J. F., Hughes I., McMillan H. J., Pegoraro E., Bello L., Burnette W. B., Thangarajh M., Chang T.
المساهمون: Guglieri M., Bushby K., McDermott M.P., Hart K.A., Tawil R., Martens W.B., Herr B.E., McColl E., Speed C., Wilkinson J., Kirschner J., King W.M., Eagle M., Brown M.W., Willis T., Griggs R.C., Straub V., van Ruiten H., Childs A.-M., Ciafaloni E., Shieh P.B., Spinty S., Maggi L., Baranello G., Butterfield R.J., Horrocks I.A., Roper H., Alhaswani Z., Flanigan K.M., Kuntz N.L., Manzur A., Darras B.T., Kang P.B., Morrison L., Krzesniak-Swinarska M., Mah J.K., Mongini T.E., Ricci F., von der Hagen M., Finkel R.S., O'Reardon K., Wicklund M., Kumar A., McDonald C.M., Han J.J., Joyce N., Henricson E.K., Schara-Schmidt U., Gangfuss A., Wilichowski E., Barohn R.J., Statland J.M., Campbell C., Vita G., Vita G.L., Howard J.F., Hughes I., McMillan H.J., Pegoraro E., Bello L., Burnette W.B., Thangarajh M., Chang T.
مصطلحات موضوعية: Child, Preschool, Female, Human, Male, Pregnenedione, Glucocorticoid, Muscular Dystrophy, Duchenne, Prednisone
Relation: info:eu-repo/semantics/altIdentifier/pmid/35381069; info:eu-repo/semantics/altIdentifier/wos/WOS:000779463300001; volume:327; issue:15; firstpage:1456; lastpage:1468; numberofpages:13; journal:JAMA; http://hdl.handle.net/2318/1858767; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128799842
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2Academic Journal
المؤلفون: Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR
المصدر: Epilepsia Open, 2018
وصف الملف: application/pdf
Relation: https://eprints.ncl.ac.uk/256708; https://eprints.ncl.ac.uk/fulltext.aspx?url=256708/685478BA-2DF3-4631-A3FB-71B3922102C3.pdf&pub_id=256708
الاتاحة: https://eprints.ncl.ac.uk/256708
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3Academic Journal
المؤلفون: Guglieri, M, Bushby, K, McDermott, MP, Hart, KA, Tawil, R, Martens, WB, Herr, BE, McColl, E, Speed, C, Wilkinson, J, Kirschner, J, King, WM, Eagle, M, Brown, MW, Willis, T, Griggs, RC, Straub, V, van Ruiten, H, Childs, AM, Ciafaloni, E, Shieh, PB, Spinty, S, Maggi, L, Baranello, G, Butterfield, RJ, Horrocks, IA, Roper, H, Alhaswani, Z, Flanigan, KM, Kuntz, NL, Manzur, A, Darras, BT, Kang, PB, Morrison, L, Krzesniak-Swinarska, M, Mah, JK, Mongini, TE, Ricci, F, von der Hagen, M, Finkel, RS, O'Reardon, K, Wicklund, M, Kumar, A, McDonald, CM, Han, JJ, Joyce, N, Henricson, EK, Schara-Schmidt, U, Gangfuss, A, Wilichowski, E, Barohn, RJ, Statland, JM, Campbell, C, Vita, G, Vita, GL, Howard, JF, Hughes, I, McMillan, HJ, Pegoraro, E, Bello, L, Burnette, WB, Thangarajh, M, Chang, T
المصدر: JAMA , 327 (15) pp. 1456-1468. (2022)
مصطلحات موضوعية: Child, Preschool, Female, Glucocorticoids, Humans, Male, Muscular Dystrophy, Duchenne, Prednisone, Pregnenediones
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4Academic Journal
المؤلفون: Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, Straub V, van Ruiten H, Childs A-M, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T
المصدر: JAMA, 19 April 2022
Relation: https://eprints.ncl.ac.uk/281766
الاتاحة: https://eprints.ncl.ac.uk/281766
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5
المؤلفون: Guglieri, M., Bushby, K., Mcdermott, M. P., Hart, K. A., Tawil, R., Martens, W. B., Herr, B. E., Mccoll, E., Speed, C., Wilkinson, J., Kirschner, J., King, W. M., Eagle, M., Brown, M. W., Willis, T., Griggs, R. C., Straub, V., van Ruiten, H., Childs, A. -M., Ciafaloni, E., Shieh, P. B., Spinty, S., Maggi, L., Baranello, G., Butterfield, R. J., Horrocks, I. A., Roper, H., Alhaswani, Z., Flanigan, K. M., Kuntz, N. L., Manzur, A., Darras, B. T., Kang, P. B., Morrison, L., Krzesniak-Swinarska, M., Mah, J. K., Mongini, T. E., Ricci, F., von der Hagen, M., Finkel, R. S., O'Reardon, K., Wicklund, M., Kumar, A., Mcdonald, C. M., Han, J. J., Joyce, N., Henricson, E. K., Schara-Schmidt, U., Gangfuss, A., Wilichowski, E., Barohn, R. J., Statland, J. M., Campbell, C., Vita, G., Vita, G. L., Howard, J. F., Hughes, I., Mcmillan, H. J., Pegoraro, E., Bello, L., Burnette, W. B., Thangarajh, M., Chang, T.
المساهمون: Schara-Schmidt, Ulrike (Beitragende*r), Gangfuss, Andrea (Beitragende*r)
المصدر: JAMA
مصطلحات موضوعية: Male, Medizin, General Medicine, Duchenne, Muscular Dystrophy, Duchenne, Child, Child, Preschool, Female, Humans, Pregnenediones, Glucocorticoids, Prednisone, Muscular Dystrophy, Preschool, Original Investigation
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6Academic Journal
المؤلفون: Mercuri E., Muntoni F., Baranello G., Masson R., Boespflug-Tanguy O., Bruno C., Corti S., Daron A., Deconinck N., Servais L., Straub V., Ouyang H., Chand D., Tauscher-Wisniewski S., Mendonca N., Lavrov A., Seferian A., De Lucia S., Tachibana S., Jollet A., Mouffak S., Pedemonte M., Brolatti N., Morando S., Vanlander A., De Vos E., Tahon V., Govoni A., Magri F., Comi G., Foa M., Parente V., Buscemi L., Dal Farra F., Schneider O., Jonas A., Defeldre A. C., Pagliano E., Zanin R., Arnoldi M. T., Schembri V., Del Sole M., Mandelli A., Pera M. C., Antonaci L., Coratti G., de Sanctis R., Pane M., Scoto M., Groves K., Edel L., Abel F., Van Ruiten H., Lofra R. M., Thompson E.
المساهمون: Mercuri, E., Muntoni, F., Baranello, G., Masson, R., Boespflug-Tanguy, O., Bruno, C., Corti, S., Daron, A., Deconinck, N., Servais, L., Straub, V., Ouyang, H., Chand, D., Tauscher-Wisniewski, S., Mendonca, N., Lavrov, A., Seferian, A., De Lucia, S., Tachibana, S., Jollet, A., Mouffak, S., Pedemonte, M., Brolatti, N., Morando, S., Vanlander, A., De Vos, E., Tahon, V., Govoni, A., Magri, F., Comi, G., Foa, M., Parente, V., Buscemi, L., Dal Farra, F., Schneider, O., Jonas, A., Defeldre, A. C., Pagliano, E., Zanin, R., Arnoldi, M. T., Schembri, V., Del Sole, M., Mandelli, A., Pera, M. C., Antonaci, L., Coratti, G., de Sanctis, R., Pane, M., Scoto, M., Groves, K., Edel, L., Abel, F., Van Ruiten, H., Lofra, R. M., Thompson, E.
مصطلحات موضوعية: spinal muscular atrrophy, gene therapy
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000701741000018; volume:20; issue:10; firstpage:832; lastpage:841; numberofpages:10; journal:LANCET NEUROLOGY; https://hdl.handle.net/11381/2997698; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114778312
الاتاحة: https://hdl.handle.net/11381/2997698
https://doi.org/10.1016/S1474-4422(21)00251-9 -
7Academic Journal
المؤلفون: van Ruiten, H. J. A., Straub, V., Bushby, K., Guglieri, M.
المصدر: Archives of Disease in Childhood ; volume 99, issue 12, page 1074-1077 ; ISSN 0003-9888 1468-2044
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8Electronic Resource
المؤلفون: Mercuri, Eugenio Maria, Muntoni, F., Baranello, Giovanni, Masson, R., Boespflug-Tanguy, O., Bruno, C., Corti, S., Daron, A., Deconinck, N., Servais, L., Straub, V., Ouyang, H., Chand, D., Tauscher-Wisniewski, S., Mendonca, N., Lavrov, A., Seferian, A., De Lucia, S., Tachibana, S., Jollet, A., Mouffak, S., Pedemonte, M., Brolatti, N., Morando, S., Vanlander, A., De Vos, E., Tahon, V., Govoni, A., Magri, F., Comi, G., Foa, M., Parente, V., Buscemi, L., Dal Farra, F., Schneider, O., Jonas, A., Defeldre, A. C., Pagliano, E., Zanin, R., Arnoldi, M. T., Schembri, V., Del Sole, M., Mandelli, A., Pera, Maria Carmela, Antonaci, Laura, Coratti, Giorgia, De Sanctis, Roberto, Pane, Marika, Scoto, M., Groves, K., Edel, L., Abel, F., Van Ruiten, H., Lofra, R. M., Thompson, E., Mercuri E. (ORCID:0000-0002-9851-5365), Baranello G., Pera M. C. (ORCID:0000-0001-6777-1721), Antonaci L., Coratti G. (ORCID:0000-0001-6666-5628), de Sanctis R., Pane M. (ORCID:0000-0002-4851-6124)
مصطلحات الفهرس: spinal muscular atrrophy, gene therapy, Settore MED/26 - NEUROLOGIA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, info:eu-repo/semantics/article
URL:
http://hdl.handle.net/10807/187120
info:eu-repo/semantics/altIdentifier/pmid/34536405
info:eu-repo/semantics/altIdentifier/wos/WOS:000701741000018
volume:20
issue:10
firstpage:832
lastpage:841
numberofpages:10
issueyear:2021
journal:LANCET NEUROLOGY -
9Academic Journal
المؤلفون: Berrington, J, Summers, D, Van Ruiten, H
المصدر: Pediatric Research ; volume 70, page 619-619 ; ISSN 0031-3998 1530-0447
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10Academic Journal
المؤلفون: Guglieri, M., van Ruiten, H., Scoto, M., Manzur, A., Munot, P., Muntoni, F., Alanzi, A., Brusa, C., Marini-Bettolo, C., Specht, S., Straub, V.
المصدر: Neuromuscular Disorders ; volume 29, page S127 ; ISSN 0960-8966
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11Academic Journal
المؤلفون: Elliott, E., van Ruiten, H., Guglieri, M., Evangelista, T., Lochmüller, H., Straub, V., Bushby, K., Marini-Bettolo, C.
المصدر: Neuromuscular Disorders ; volume 27, page S38 ; ISSN 0960-8966
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12Academic Journal
المؤلفون: Marini Bettolo, C., van Ruiten, H., Guglieri, M., Eagle, M., Straub, V., Lochmüller, H., Bushby, K.
المصدر: Neuromuscular Disorders ; volume 25, page S301-S302 ; ISSN 0960-8966
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13Academic Journal
المؤلفون: Marini Bettolo, C., Guglieri, M., van Ruiten, H., Straub, V., Bushby, K., Lochmüller, H.
المصدر: Neuromuscular Disorders ; volume 25, page S200 ; ISSN 0960-8966
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14Academic Journal
المؤلفون: Collier, D. J., Nickol, A. H., Milledge, J. S., Van Ruiten, H. J. A., Collier, C. J., Swenson, E. R., Datta, Avijit, Wolff, C. B.
المصدر: Journal of Applied Physiology; Feb2008, Vol. 104 Issue 2, p404-415, 12p, 1 Chart, 10 Graphs
مصطلحات موضوعية: ALVEOLAR process, VENTILATION, RESPIRATION, OSCILLATIONS, DYNAMOMETER, EXERCISE, SEA level, HYPOXEMIA
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15Conference
المؤلفون: Reeves T, Williams E, Waugh S, Gunti S, Basu A, Devlin A, Forsyth R, Mcfarland R, Pang K, van Ruiten H, Roncero I
المصدر: British Paediatric Neurology Association, Abstracts of the Annual Meeting
Relation: https://eprints.ncl.ac.uk/279834
الاتاحة: https://eprints.ncl.ac.uk/279834
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16Conference
المؤلفون: Bettolo CM, van Ruiten H, Guglieri M, Eagle M, Straub V, Lochmuller H, Bushby K
المصدر: 20th International Congress of the The World Muscle Society
Relation: https://eprints.ncl.ac.uk/220185
الاتاحة: https://eprints.ncl.ac.uk/220185
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17Academic Journal
المؤلفون: Elliott, E., van Ruiten, H., Guglieri, M., Evangelista, T., Lochmüller, H., Straub, V., Bushby, K., Marini-Bettolo, C.
المصدر: Neuromuscular Disorders. Mar2017 Supplement 1, Vol. 27, pS38-S38. 1p.
مصطلحات موضوعية: *HOSPITAL admission & discharge, *NEUROMUSCULAR diseases, *PATIENTS