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1دورية أكاديمية
المؤلفون: Syeda, S., Mohammed, M., Foley, A., Donkervoort, S., Saade, D., Neuhaus, S., Mohassel, P., Bharucha-Goebel, D., Leach, M., Fink, M., Dastgir, J., Bönnemann, C.
المصدر: Neuromuscular Disorders ; volume 31, page S67 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016Test/j.nmd.2021.07.085
https://api.elsevier.com/content/article/PII:S0960896621002728?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621002728?httpAccept=text/plainTest -
2دورية أكاديمية
المؤلفون: Foley, A. Reghan, Zou, Y. (Yaqun), Dunford, James E., Rooney, J. (Jachinta), Chandra, G. (Goutam), Xiong, H. (Hui), Straub, V. (Volker), Voit, T. (Thomas), Romero, N. (Norma), Donkervoort, S. (Sandra), Hu, Y. (Ying), Markello, T. (Thomas), Horn, A. (Adam), Qebibo, L. (Leila), Dastgir, J. (Jahannaz), Meilleur, Katherine G., Finkel, Richard S., Fan, Y. (Yanbin), Mamchaoui, K. (Kamel), Duguez, S. (Stephanie), Nelson, I. (Isabelle), Laporte, J. (Jocelyn), Santi, M. (Mariarita), Malfatti, E. (Edoardo), Maisonobe, T. (Thierry), Touraine, P. (Philippe), Hirano, M. (Michio), Hughes, I. (Imelda), Bushby, K. (Kate), Oppermann, U. (Udo), Böhm, J. (Johann), Jaiswal, Jyoti K., Stojkovic, T. (Tanya), Bönnemann, Carsten G.
مصطلحات موضوعية: Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC]
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3دورية أكاديمية
المؤلفون: Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Bohm, J, Jaiswal, JK, Stojkovic, T, Bonnemann, CG
المصدر: Annals of Neurology (2020) (In press).
مصطلحات موضوعية: GERANYLGERANYL PYROPHOSPHATE SYNTHASE, SENSORINEURAL HEARING-LOSS, VICI SYNDROME, PROTEIN PRENYLATION, DIPHOSPHATE SYNTHASE, CRYSTAL-STRUCTURE, MUTATION, BALANCE, GTPASES, CELLS
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10105171/1/ana.25772.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10105171Test/
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4دورية أكاديمية
المؤلفون: Tasca G., Monforte M., Diaz-Manera J., Brisca G., Semplicini C., D'Amico A., Fattori F., Pichiecchio A., Berardinelli A., Maggi L., Maccagnano E., Lokken N., Marini-Bettolo C., Munell F., Sanchez A., Alshaikh N., Voermans N. C., Dastgir J., Vlodavets D., Haberlova J., Magnano G., Walter M. C., Quijano-Roy S., Carlier R. -Y., Van Engelen B. G. M., Vissing J., Straub V., Bonnemann C. G., Mercuri E., Muntoni F., Pegoraro E., Bertini E., Udd B., Ricci E., Bruno C.
المساهمون: Tasca, G., Monforte, M., Diaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Lokken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlova, J., Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. -Y., Van Engelen, B. G. M., Vissing, J., Straub, V., Bonnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E., Bruno, C.
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Europe, Female, Human, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal, Mutation, Phenotype, Sarcoglycanopathie, Sarcoglycan, United States
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28889091; info:eu-repo/semantics/altIdentifier/wos/WOS:000418228400012; volume:89; issue:1; firstpage:72-77; lastpage:77; journal:JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY; http://hdl.handle.net/11571/1348616Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85039991338
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5دورية أكاديمية
المؤلفون: Dastgir, J., Rastogi, S., Philips, D., Wilson, C., Boulos, N., Hall, J., Jimenez, V., Gilmor, M., Falabella, P., Owusu, L., Fiscella, M., Liu, Y., Pakola, S., Danos, O.
المصدر: Neuromuscular Disorders ; volume 33, page S101 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016Test/j.nmd.2023.07.143
https://api.elsevier.com/content/article/PII:S0960896623003231?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623003231?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Giunta, C., Baumann, M., Fauth, C., Lindert, U., Abdalla, E.M., Brady, A.F., Collins, J., Dastgir, J., Donkervoort, S., Ghali, N., Johnson, D.S., Kariminejad, A., Koch, J., Kraenzlin, M., Lahiri, N., Lozic, B., Manzur, A.Y., Morton, J.E.V., Pilch, J., Pollitt, R.C., Schreiber, G., Shannon, N.L., Sobey, G., Vandersteen, A., van Dijk, F.S., Witsch-Baumgartner, M., Zschocke, J., Pope, F.M., Bönnemann, C.G., Rohrbach, M.
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/119110/1/gim201770a.pdfTest; Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20 (1). pp. 42-54. ISSN 1098-3600
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7دورية أكاديمية
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 -
8دورية أكاديمية
المؤلفون: Zygmunt, A., Deng, S., Donkervoort, S., Mohassel, P., Bharucha-Goebel, D., Saade, D., Neuhaus, S., Dastgir, J., Acquaye, N., Hinkley, L., Lehky, T., Foley, A., Bönnemann, C.
المصدر: Neuromuscular Disorders ; volume 32, page S57 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016Test/j.nmd.2022.07.066
https://api.elsevier.com/content/article/PII:S0960896622002681?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896622002681?httpAccept=text/plainTest -
9
المؤلفون: McDonald CM, A238., Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, Rs, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, Es, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud LC, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo AP, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Finkel, R, Frank, Lm, Harper, A, Hattori, A, Herguner, O, Iannaccone, S, Janas, J, Jong, Yj, Komaki, H, Kuntz, N, Lee, Wt, Leung, E, Mah, J, Cm, M, Mercuri, E, Mcmillan, H, Mueller-Felber, W, Lopez de Munain, A, Nakamura, A, Niks, E, Ogata, K, Pascual, S, Pegoraro, E, Pereon, Y, Renfroe, B, Sanka, Rb, Schallner, J, Sendra, Ii, Servais, L, Smith, E, Sparks, S, Victor, R, Wicklund, M, Wilichoswki, E, Wong, B.
المصدر: Muscle & Nerve
مصطلحات موضوعية: Male, Duchenne muscular dystrophy, 0301 basic medicine, medicine.medical_specialty, Physiology, medicine.drug_class, Prednisolone, Anti-Inflammatory Agents, Walking, 030105 genetics & heredity, Placebo, prednisone/prednisolone, ambulatory function, deflazacort, meta-analysis, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Pregnenediones, Prednisone, Physiology (medical), Internal medicine, Humans, Multicenter Studies as Topic, Medicine, Child, Clinical Research Articles, Randomized Controlled Trials as Topic, Clinical Research Article, business.industry, medicine.disease, Confidence interval, Muscular Dystrophy, Duchenne, Deflazacort, Treatment Outcome, meta‐analysis, Ambulatory, Disease Progression, Corticosteroid, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226b242305b42902003713d1980f97f5Test
https://doi.org/10.1002/mus.26736Test -
10دورية أكاديمية
المؤلفون: A238. McDonald CM, Sajeev G, Yao Z, McDonnell E, Elfring G, Souza M, Peltz SW, Darras BT, Shieh PB, Cox DA, Landry J, Signorovitch J, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Alfano LN, Eagle M, James MK, Lowes L, Mayhew A, Mazzone ES, Nelson L, Rose KJ, Abdel-Hamid HZ, Apkon SD, Barohn RJ, Bertini E, Bloetzer C, de Vaud LC, Butterfield RJ, Chabrol B, Chae JH, Jongno-Gu DR, Comi GP, Dastgir J, Desguerre I, Escobar RG, Finanger E, Guglieri M, Hughes I, Iannaccone ST, Jones KJ, Karachunski P, Kudr M, Lotze T, Mah JK, Mathews K, Nevo Y, Parsons J, Péréon Y, de Queiroz Campos Araujo AP, Renfroe JB, de Mbd R, Ryan M, Selby K, Tennekoon G, Vita G, Abdel-Hamid H, Apkon S, Barohn R, Belousova E, Brandsema J, Bruno C, Burnette W, Butterfield R, Byrne B, Carlo J, Chandratre S, Comi G, Connolly A, De Groot I, Deconinck N, Dooley J, Dubrovsky A, Durigneux J, Finkel R, Frank LM, Harper A, Hattori A, Herguner O, Iannaccone S, Janas J, Jong YJ, Komaki H, Kuntz N, Lee WT, Leung E, Mah J, Cm M, Mercuri E, McMillan H, Mueller-Felber W, Lopez de Munain A, Nakamura A, Niks E, Ogata K, Pascual S, Pegoraro E, Pereon Y, Renfroe B, Sanka RB, Schallner J, Sendra II, Servais L, Smith E, Sparks S, Victor R, Wicklund M, Wilichoswki E, Wong B.
المساهمون: A238., McDonald CM, Sajeev, G, Yao, Z, Mcdonnell, E, Elfring, G, Souza, M, Peltz, Sw, Darras, Bt, Shieh, Pb, Cox, Da, Landry, J, Signorovitch, J, Campbell, C, Torricelli, Re, Finkel, R, Flanigan, Km, Goemans, N, Heydemann, P, Kaminska, A, Kirschner, J, Muntoni, F, Osorio, An, Schara, U, Sejersen, T, Sweeney, Hl, Topaloglu, H, Tulinius, M, Vilchez, Jj, Voit, T, Wong, B, Alfano, Ln, Eagle, M, James, Mk, Lowes, L, Mayhew, A, Mazzone, E, Nelson, L, Rose, Kj, Abdel-Hamid, Hz, Apkon, Sd, Barohn, Rj, Bertini, E, Bloetzer, C, de Vaud, Lc, Butterfield, Rj, Chabrol, B, Chae, Jh, Jongno-Gu, Dr, Comi, Gp, Dastgir, J, Desguerre, I, Escobar, Rg, Finanger, E, Guglieri, M, Hughes, I, Iannaccone, St, Jones, Kj, Karachunski, P, Kudr, M, Lotze, T, Mah, Jk, Mathews, K, Nevo, Y, Parsons, J, Péréon, Y, de Queiroz Campos Araujo, Ap, Renfroe, Jb, de Mbd, R, Ryan, M, Selby, K, Tennekoon, G, Vita, G, Abdel-Hamid, H, Apkon, S, Barohn, R, Belousova, E, Brandsema, J, Bruno, C, Burnette, W, Butterfield, R, Byrne, B, Carlo, J, Chandratre, S, Comi, G, Connolly, A, De Groot, I, Deconinck, N, Dooley, J, Dubrovsky, A, Durigneux, J, Frank, Lm, Harper, A, Hattori, A, Herguner, O
مصطلحات موضوعية: Duchenne muscular dystrophy, ambulatory function, deflazacort, meta-analysi, prednisone/prednisolone
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31599456; info:eu-repo/semantics/altIdentifier/wos/WOS:000494992300001; volume:61; firstpage:26; lastpage:35; numberofpages:10; journal:MUSCLE & NERVE; http://hdl.handle.net/11570/3145121Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85075179793
