نتائج البحث - "TAWIL R"

المساهمون: Lemmers, Rjlf, van der Stoep, N, Vliet, Pjv, Moore, Sa, San Leon Granado, D, Johnson, K, Topf, A, Straub, V, Evangelista, T, Mozaffar, T, Kimonis, V, Selvatici, R, Ferlini, A, Voermans, N, van Engelen, B, Sacconi, S, Tawil, R, Lamers, M, van der Maarel, Sm, Shaw, Dn

مصطلحات موضوعية: ATPase domain, BAMS, D4Z4, DUX4, FSHD, mutation spectrum, SMCHD1

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/31243061; info:eu-repo/semantics/altIdentifier/wos/WOS:000514845400008; volume:56; issue:10; firstpage:693; lastpage:700; numberofpages:8; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11392/2407228; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068329890; https://jmg.bmj.com/content/56/10/693

الاتاحة: http://hdl.handle.net/11392/2407228
https://doi.org/10.1136/jmedgenet-2019-106168
https://jmg.bmj.com/content/56/10/693

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5

Electronic Resource

Facioscapulohumeral muscular dystrophy: the road to targeted therapies.

المؤلفون: Tihaya, M.S., Mul, K., Balog, J., Greef, J.C. de, Tapscott, S.J., Tawil, R., Statland, J.M., Maarel, S.M. van der

المصدر: Nature Reviews. Neurology; 91; 108; 1759-4758; 2; 19; ~Nature Reviews. Neurology~91~108~~~1759-4758~2~19~~

URL: https://repository.ubn.ru.nl/handle/2066/291173

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6

Academic Journal

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

المؤلفون: van der Wal, Estella, Hamer, B, van der Vliet, PJ, Tok, M, Brands, Tom, Eussen, HJFMM (Bert), Lemmers, R, Freund, C, de Klein, Annelies, Buijsen, RAM, van Roon-Mom, WMC, Tawil, R, van der Maarel, SM, de Greef, JC

المصدر: van der Wal , E , Hamer , B , van der Vliet , PJ , Tok , M , Brands , T , Eussen , HJFMM , Lemmers , R , Freund , C , de Klein , A , Buijsen , RAM , van Roon-Mom , WMC , Tawil , R , van der Maarel , SM & de Greef , JC 2019 , ' Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients ' , Stem Cell Research , vol. 40 , Unsp 101560 . https://doi.org/10.1016/j.scr.2019.101560

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a3cc818f-f8d1-4921-934a-1146df91921e
https://doi.org/10.1016/j.scr.2019.101560
https://pure.eur.nl/ws/files/48240025/Repub_119548_O-A.pdf
http://hdl.handle.net/1765/119548

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7

Academic Journal

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

المؤلفون: LoRusso S, Johnson NE, McDermott MP, Eichinger K, Butterfield RJ, Carraro E, Higgs K, Lewis L, Mul K, Sacconi S, Sansone VA, Shieh P, van Engelen B, Wagner K, Wang L, Statland JM, Tawil R

المساهمون: S. Lorusso, N. Johnson, M. Mcdermott, K. Eichinger, R. Butterfield, E. Carraro, K. Higg, L. Lewi, K. Mul, S. Sacconi, V. Sansone, P. Shieh, B. van Engelen, K. Wagner, L. Wang, J. Statland, R. Tawil

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Outcome measure, Clinical trial, Functional testing, Electrical impedance Myography, Biomarkers, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/pmid/31506080; info:eu-repo/semantics/altIdentifier/wos/WOS:000485267200001; volume:19; issue:1; firstpage:1; lastpage:13; numberofpages:13; journal:BMC NEUROLOGY; http://hdl.handle.net/2434/698649; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072044121

الاتاحة: http://hdl.handle.net/2434/698649
https://doi.org/10.1186/s12883-019-1452-x

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8

Academic Journal

Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy

المؤلفون: Wang, L.H., Leung, D.G., Wagner, K.R., Lowry, S.J., McDermott, M.P., Eichinger, K., Higgs, K., Walker, M., Lewis, L., Martens, W.B., Mul, K., Sansone, V.A., Shieh, P., Elsheikh, B., LoRusso, S., Butterfield, R.J., Johnson, N., Preston, M.R., Messina, C., Carraro, E., Tawil, R., Statland, J.

المصدر: Neuromuscular Disorders, 33, 9, pp. 63-68

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl/handle/2066/301067

الاتاحة: https://repository.ubn.ru.nl/handle/2066/301067
https://doi.org/10.1016/j.nmd.2023.06.008

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9

Academic Journal

P51 Phase 1/2 study to evaluate AOC 1020 for adult patients with facioscapulohumeral muscular dystrophy: FORTITUDE trial design

المؤلفون: Halseth, A., Ackermann, E., Brandt, T., Chen, C., Cho, H., Stahl, M., DiTrapani, K., Hughes, S., Tawil, R., Statland, J.

المصدر: Neuromuscular Disorders ; volume 33, page S71 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.032
https://api.elsevier.com/content/article/PII:S0960896623002122?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623002122?httpAccept=text/plain

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10

Academic Journal

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial

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

الاتاحة: http://hdl.handle.net/2318/1858767
https://doi.org/10.1001/jama.2022.4315

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11

Conference

Design of Reach:Phase 3 randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in FSHD

المؤلفون: Tawil, R., Han, J., Wang, L., Vissing, J., van Engelen, B., Statland, J., Mellion, M., Shoskes, J., Morabito, C., Jiang, J., Webster, J.

المصدر: Tawil , R , Han , J , Wang , L , Vissing , J , van Engelen , B , Statland , J , Mellion , M , Shoskes , J , Morabito , C , Jiang , J & Webster , J 2022 , ' Design of Reach : Phase 3 randomized, double-blind, placebo-controlled, 48-week study of the efficacy and safety of losmapimod in FSHD ' , Neuromuscular Disorders , vol. 32 , no. Supplement 1 , P.136 , pp. S104-S104 . https://doi.org/10.1016/j.nmd.2022.07.258

الاتاحة: https://curis.ku.dk/portal/da/publications/design-of-reach(9cb316a3-db88-4cf5-b7dc-ddf6a1804daa).html
https://doi.org/10.1016/j.nmd.2022.07.258

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12

Academic Journal

EDTA as chelating agent for sol-gel synthesis of spinel LiMn₂O₄ cathode material for lithium batteries

المؤلفون: Hashem, Ahmed M., Abdel-Ghany, Ashraf E., Abuzeid, Hanaa M., El-Tawil, R. S., Indris, Sylvio, Ehrenberg, Helmut, Mauger, Alain, Julien, Christian M.

المصدر: Journal of alloys and compounds, 737, 758-766 ; ISSN: 0925-8388, 1873-4669

مصطلحات موضوعية: ddc:620, Engineering & allied operations, info:eu-repo/classification/ddc/620

Relation: info:eu-repo/semantics/altIdentifier/wos/000419212900093; info:eu-repo/semantics/altIdentifier/issn/0925-8388; info:eu-repo/semantics/altIdentifier/issn/1873-4669; https://publikationen.bibliothek.kit.edu/1000078408

الاتاحة: https://publikationen.bibliothek.kit.edu/1000078408

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13

Academic Journal

EDTA as chelating agent for sol-gel synthesis of spinel LiMn 2 O 4 cathode material for lithium batteries

المؤلفون: Hashem, A., M, Abdel-Ghany, A., Abuzeid, H., M, El-Tawil, R, S, Indris, S., Ehrenberg, H., Mauger, A., Julien, C.M.

المساهمون: Karlsruhe Institute of Technology = Karlsruher Institut für Technologie (KIT), Institut de minéralogie, de physique des matériaux et de cosmochimie (IMPMC), Muséum national d'Histoire naturelle (MNHN)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de recherche pour le développement IRD : UR206-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0925-8388 ; Journal of Alloys and Compounds ; https://hal.sorbonne-universite.fr/hal-01693666 ; Journal of Alloys and Compounds, 2018, 737, pp.758-766. ⟨10.1016/j.jallcom.2017.12.153⟩.

مصطلحات موضوعية: [CHIM.MATE]Chemical Sciences/Material chemistry

Relation: hal-01693666; https://hal.sorbonne-universite.fr/hal-01693666; https://hal.sorbonne-universite.fr/hal-01693666/document; https://hal.sorbonne-universite.fr/hal-01693666/file/EDTA%20spinel%20%28revised%20AM_CMJ%29%20HAL.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-01693666
https://hal.sorbonne-universite.fr/hal-01693666/document
https://hal.sorbonne-universite.fr/hal-01693666/file/EDTA%20spinel%20%28revised%20AM_CMJ%29%20HAL.pdf
https://doi.org/10.1016/j.jallcom.2017.12.153

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14

Academic Journal

A checklist for clinical trials in rare disease: Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial

المؤلفون: Crow, R, Hart, K, McDermott, M, Tawil, R, Martens, W, Thangarajh, Mathula, +several additional authors

المصدر: Neurology Faculty Publications

مصطلحات موضوعية: Clinical Trials, Neurology

وصف الملف: application/pdf

Relation: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/463; https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1464&context=smhs_neuro_facpubs

الاتاحة: https://hsrc.himmelfarb.gwu.edu/smhs_neuro_facpubs/463
https://hsrc.himmelfarb.gwu.edu/cgi/viewcontent.cgi?article=1464&context=smhs_neuro_facpubs

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15

Academic Journal

P.072 Agreement between children and their parents’ ratings of the health-related quality of life of children with Duchenne Muscular Dystrophy

المؤلفون: Brar, S, Campbell, C, McColl, E, Martens, W, McDermott, M, Tawil, R, Hart, K, Herr, B, Kirschner, J, Guglieri, M, Griggs, R

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 45, issue s2, page S35-S35 ; ISSN 0317-1671 2057-0155

الاتاحة: http://dx.doi.org/10.1017/cjn.2018.174
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167118001749

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