المؤلفون: Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgic B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaclioglu CT, Knoppke B, Kohl M, Kolbel H, Kolker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Muller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadza D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel G-F, Wagner M, Van Der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H

المصدر: Hepatology, May 2024

Relation: https://eprints.ncl.ac.uk/298135

الاتاحة: https://eprints.ncl.ac.uk/298135

المؤلفون: Topf A, Pyle A, Griffin H, Matalonga L, Schon K, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kolbel H, Roos A, Horvath R

المصدر: European Journal of Human Genetics, 1 September 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/282157; https://eprints.ncl.ac.uk/fulltext.aspx?url=282157/590F877E-2694-44E9-A0C9-1D935A092E4B.pdf&pub_id=282157

الاتاحة: https://eprints.ncl.ac.uk/282157

المؤلفون: Gangfuss A, Czech A, Hentschel A, Munchberg U, Horvath R, Topf A, O'Heir E, Lochmuller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kolbel H, Christiansen J, Schara-Schmidt U, Roos A

المصدر: Journal of Pathology, 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/278598; https://eprints.ncl.ac.uk/fulltext.aspx?url=278598/620E2757-7FD0-4AEC-81A5-098503D82684.pdf&pub_id=278598

الاتاحة: https://eprints.ncl.ac.uk/278598

المؤلفون: Chiriboga C. A., Bruno C., Duong T., Fischer D., Mercuri E., Kirschner J., Kostera-Pruszczyk A., Jaber B., Gorni K., Kletzl H., Carruthers I., Martin C., Warren F., Scalco R. S., Wagner K. R., Muntoni F., Deconinck N., Balikova I., Joniau I., Tahon V., Wittevrongel S., Goemans N., Cassiman C., Prove L., Vancampenhout L., van den Hauwe M., Van Impe A., Cances C., Soler V., De La Morandais L. M., Vovan D., Cintas P., Auriol F., Mus M., Alphonsa G., Bellio V., Gil Mato O., Flamein F., Evrard C., Ziouche A., Bouacha-Allou I., Debruyne P., Derlyn G., Defoort S., Leroy F., Danjoux L., Desguerre I., Bremond-Gignac D., Rateuax M., Deladriere E., Vuillerot C., Veillerot Q., Sibille-Dabadi B., Barriere A., Tinat M., Saidi M., Fontaine S., De Montferrand C., Le-Goff L., Portefaix A., Louvier U. W., Duval P. -A., Caradec P., Touati S., Herranz A. Z., Bollig J., Molnar F., Vogt S., Pechmann A., Schorling D., Wider S., Kolbel H., Schara U., Braun F., Gangfuss A., Hagenacker T., Eckstein A., Dekowski D., Oeverhaus M., Stoehr M., Andres B., Smuda K., Bertini E., D'Amico A., Petroni S., Valente P., Bonetti A. M., Carlesi A., Mizzoni I., Pedemonte M., Brolatti N., Priolo E., Rao G., Sposetti L., Morando S., Comi G., Osnaghi S., Minorini V., Abbati F., Fassini F., Foa M., Lopopolo M. A., Magri F., Govoni A., Meneri M., Parente V., Antonaci L., Pera M. C., Pane M., Amorelli G. M., Barresi C., D'Amico G., Orazi L., Coratti G., De Sanctis R., Vita G., Sframeli M., Vita G. L., Aragona P., Inferrera L., Postorino E. I., Montanini D., Di Bella V., Donato C., Cala E., Van der Pol L., Aalbers J., de Boer J., Imhof S., Cooijmans P., Ruyten T., Van Der Woude D., Klimaszewska B., Romanczak D., Gierlak-Wojcicka Z., Kepa M., Sikorski A., Sobieraj M., Lusakowska A., Kierdaszuk B., Czeczko K., Henzi B., Gugleta K., Kusnyerik A., Siems P., Akos S., Frei N., Seppi C., Haschke C. W., Guglieri M., Straub V., Bell R., Nassar M., Page S., Clarke M. P., Regan A., Mayhew A., Lofra R. M., Parasuraman D., Bruschi S., Ghauri A. -J., Castle A., Naqvi S., Patt N., Scoto M., Trucco F., Henderson R. H., Kukadia R., Moore W., Milev E., Rye C., Selby V., Wolfe A., Darras B., Baglieri A. M., Fulton A., Lucken C., Maczek E., Pasternak A., Kane S., Bautista M. E. M., Frommer E., Pensec N., Salazar R., Yochai C., Rodrigues-Torres R., Chawla M., Day J., Beres S., Gee R., Young S. D., Finkel R., Nazario A. N., Fasiuddin A., Wells J. A., Wilson J., Berry D., Rizzo V., Duke J., Monduy M., Collado J.

المساهمون: Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, E., Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, C., Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, E., D'Amico, A., Petroni, S., Valente, P., Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F.

مصطلحات موضوعية: Inglese

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001022795200001; volume:12; issue:5; firstpage:1799; lastpage:1801; numberofpages:3; journal:NEUROLOGY AND THERAPY; https://hdl.handle.net/11381/2997715; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169422493

الاتاحة: https://hdl.handle.net/11381/2997715
https://doi.org/10.1007/s40120-023-00503-7

المؤلفون: Kolbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Topf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Furst DO, Schara U

المصدر: Human Mutation, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/268170; https://eprints.ncl.ac.uk/fulltext.aspx?url=268170/6CF8584F-AA6E-4F48-B54C-E3F3133A7B89.pdf&pub_id=268170

الاتاحة: https://eprints.ncl.ac.uk/268170

المؤلفون: Mercuri, E, Muntoni, F, Osorio, AN, Tulinius, M, Buccella, F, Morgenroth, LP, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, L, Kristensen, A, Santos, CL, Henricson, EK, McDonald, CM, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintova, Z, Danhofer, P, Fabulova, P, Jurikova, L, Fuchsova, P, Haberlova, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Pereon, Y, Cuisset, JM, Coopman-Degryse, S, Enaud, E, Jacquemont, ML, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, LV, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, JB, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D'Amico, A, Pane, M, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, AM, Alhaswani, Z, Roper, H, Parasuraman, D, DeGoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, WD, McAdam, LC, Mah, JK, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, RT, Joyce, NC, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, PR, Abdel-Hamid, H, Connolly, AM, Pestronk, A, Teasley, J, Harper, A, Bertorini, TE, Kuntz, N, Driscoll, S, Day, JW, Karachunski, P, Lotze, T

المساهمون: E. Mercuri, F. Muntoni, A. Osorio, M. Tuliniu, F. Buccella, L. Morgenroth, H. Gordish-Dressman, J. Jiang, P. Trifilli, L. Zhu, A. Kristensen, C. Santo, E. Henricson, C. Mcdonald, I. Desguerre, G. Bernert, M. Gosk-Tomek, A. Ille, A. Kellersmann, S. Wei, V. Pilshofer, Z. Balintova, P. Danhofer, P. Fabulova, L. Jurikova, P. Fuchsova, J. Haberlova, F. Laffargue, C. Sarret, B. Pontier, R. Bellance, E. Sarrazin, P. Sabouraud, A. Magot, S. Mercier, Y. Pereon, J. Cuisset, S. Coopman-Degryse, E. Enaud, M. Jacquemont, A. Perville, M. Renouil, V. Trommsdorff, D. Verheulpen, S. Fontaine-Carbonnel, C. Vuillerot, S. Peudenier, J. Ropar, F. Audic, B. Chabrol, S. Chabrier, G. Gousse, E. Lagrue, K. Aragon, C. Barneria, L. Brande, S. De Lucia, T. Gidaro, A. Seferian, L. Servai, V. Laugel, C. Espil-Tari, H. Mecili, E. Raffo, S. Ragot-Mandry, S. Borrell, J. Kirschner, A. Gangfu, M. Henrich, H. Kolbel, U. Schara, N. Sponemann, E. Temme, J. Seeger, A. Hirsch, J. Denecke, J. Johannsen, A. Neu, D. Osinski, S. Rugner, S. Schussler, R. Trollmann, A. Kaindl, J. Schneider, C. Stoltenburg, C. Wei, G. Schreiber, A. Hahn, M. Grzybowski, E. Pavlidou, E. Pavlou, S. Dobner, Z. Liptai, T. Dor, C. Brogna, M. Catteruccia, A. D'Amico, M. Pane

مصطلحات موضوعية: ataluren, dystrophin, effectivene, nonsense mutation Duchenne muscular dystrophy, safety, STRIDE Registry, Settore MED/26 - Neurologia

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000533276600004; volume:9; issue:5; firstpage:341; lastpage:360; numberofpages:20; journal:JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH; http://hdl.handle.net/2434/853343; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081222196

الاتاحة: http://hdl.handle.net/2434/853343
https://doi.org/10.2217/cer-2019-0171

المؤلفون: Topf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasus AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG, Akay E, Alonso-Perez J, Baets J, Barisic N, Bastian A, Borell S, Chamova T, Claeys K, Colomer J, Coppens S, Deconinck N, de Ridder W, Diaz-Manera J, Dominguez-Gonzalez C, Duncan A, Durmus H, Fahmy NA, Farrugia ME, Fernandez-Torron R, Gonzalez-Quereda L, Haberlova J, von der Hagen M, Hahn A, Jakovcevic A, JericoPascual I, Kapetanovic S, Kenina V, Kirschner J, Klein A, Kolbel H, Kostera-Pruszczyk A, Kulshrestha R, Lahdetie J, Layegh M, Longman C, Lopezde Munain A, Loscher W, Lusakowska A, Maddison P, Magot A, Majumdar A, Marti P, MartinezArroyo A, Mazanec R, Mercier S, Mongini T, Muelas N, Nascimento A, Nafissi S, Omidi S, Ortez C, Paquay S, Pereon Y, Peric S, Ponzalino V, Rakocevic Stojanovic V, Remiche G, RodriguezSainz A, Rudnik S, SanchezAlbisua I, Santos M, Schara U, Shatillo A, Sertic J, Stephani U, Strang-Karlsson S, Sznajer Y, Tanev A, Tournev I, Van den Bergh P, Van Parijs V, Vilchez J, Vill K, Vissing J, Wallgren-Pettersson C, Wanschitz J, Willis T, Witting N, Zulaica M, Straub V

المصدر: Genetics in Medicine, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/267566; https://eprints.ncl.ac.uk/fulltext.aspx?url=267566/5017D509-DDA2-4331-9E22-C96779FB4397.pdf&pub_id=267566

الاتاحة: https://eprints.ncl.ac.uk/267566

المؤلفون: Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., Bruschi S.

مصطلحات الفهرس: Inglese, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Settore MED/33 - MALATTIE APPARATO LOCOMOTORE, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/260234
info:eu-repo/semantics/altIdentifier/pmid/37395990
info:eu-repo/semantics/altIdentifier/wos/WOS:001022795200001
volume:12
issue:5
firstpage:1799
lastpage:1801
numberofpages:3
issueyear:2023
journal:NEUROLOGY AND THERAPY

المؤلفون: Roos A, van der Ven PFM, Alrohaif H, Kolbel H, Heil L, Della Marina A, Weis J, Assent M, Beck-Wodl S, Barresi R, Topf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schroder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Robisch L, Hentschel A, Gruneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmuller H

المصدر: Brain, 3 October 2023

Relation: https://eprints.ncl.ac.uk/294343

الاتاحة: https://eprints.ncl.ac.uk/294343

المؤلفون: Mohassel P., Donkervoort S., Lone M. A., Nalls M., Gable K., Gupta S. D., Foley A. R., Hu Y., Saute J. A. M., Moreira A. L., Kok F., Introna A., Logroscino G., Grunseich C., Nickolls A. R., Pourshafie N., Neuhaus S. B., Saade D., Gangfuss A., Kolbel H., Piccus Z., Le Pichon C. E., Fiorillo C., Ly C. V., Topf A., Brady L., Specht S., Zidell A., Pedro H., Mittelmann E., Thomas F. P., Chao K. R., Konersman C. G., Cho M. T., Brandt T., Straub V., Connolly A. M., Schara U., Roos A., Tarnopolsky M., Hoke A., Brown R. H., Lee C. -H., Hornemann T., Dunn T. M., Bonnemann C. G.

المساهمون: Mohassel, P., Donkervoort, S., Lone, M. A., Nalls, M., Gable, K., Gupta, S. D., Foley, A. R., Hu, Y., Saute, J. A. M., Moreira, A. L., Kok, F., Introna, A., Logroscino, G., Grunseich, C., Nickolls, A. R., Pourshafie, N., Neuhaus, S. B., Saade, D., Gangfuss, A., Kolbel, H., Piccus, Z., Le Pichon, C. E., Fiorillo, C., Ly, C. V., Topf, A., Brady, L., Specht, S., Zidell, A., Pedro, H., Mittelmann, E., Thomas, F. P., Chao, K. R., Konersman, C. G., Cho, M. T., Brandt, T., Straub, V., Connolly, A. M., Schara, U., Roos, A., Tarnopolsky, M., Hoke, A., Brown, R. H., Lee, C. -H., Hornemann, T., Dunn, T. M., Bonnemann, C. G.

مصطلحات موضوعية: Adolescent, Adult, Allele, Amino Acid Sequence, Amyotrophic Lateral Sclerosi, CRISPR-Cas System, Child, Female, Genes, Dominant, HEK293 Cell, Human, Male, Middle Aged, Mutation, Serine C-Palmitoyltransferase, Sphingolipid, Young Adult

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34059824; info:eu-repo/semantics/altIdentifier/wos/WOS:000656411000002; volume:27; firstpage:1197; lastpage:1204; numberofpages:8; journal:NATURE MEDICINE; https://hdl.handle.net/11567/1065217; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107325100

الاتاحة: https://hdl.handle.net/11567/1065217
https://doi.org/10.1038/s41591-021-01346-1

المؤلفون: Topf A., Johnson K., Bates A., Phillips L., Chao K. R., England E. M., Laricchia K. M., Mullen T., Valkanas E., Xu L., Bertoli M., Blain A., Casasus A. B., Duff J., Mroczek M., Specht S., Lek M., Ensini M., MacArthur D. G., Akay E., Alonso-Perez J., Baets J., Barisic N., Bastian A., Borell S., Chamova T., Claeys K., Colomer J., Coppens S., Deconinck N., de Ridder W., Diaz-Manera J., Dominguez-Gonzalez C., Duncan A., Durmus H., Fahmy N. A., Farrugia M. E., Fernandez-Torron R., Gonzalez-Quereda L., Haberlova J., von der Hagen M., Hahn A., Jakovcevic A., JericoPascual I., Kapetanovic S., Kenina V., Kirschner J., Klein A., Kolbel H., Kostera-Pruszczyk A., Kulshrestha R., Lahdetie J., Layegh M., Longman C., Lopezde Munain A., Loscher W., Lusakowska A., Maddison P., Magot A., Majumdar A., Marti P., MartinezArroyo A., Mazanec R., Mercier S., Mongini T., Muelas N., Nascimento A., Nafissi S., Omidi S., Ortez C., Paquay S., Pereon Y., Peric S., Ponzalino V., Rakocevic Stojanovic V., Remiche G., RodriguezSainz A., Rudnik S., SanchezAlbisua I., Santos M., Schara U., Shatillo A., Sertic J., Stephani U., Strang-Karlsson S., Sznajer Y., Tanev A., Tournev I., Van den Bergh P., Van Parijs V., Vilchez J., Vill K., Vissing J., Wallgren-Pettersson C., Wanschitz J., Willis T., Witting N., Zulaica M., Straub V.

المساهمون: Topf A., Johnson K., Bates A., Phillips L., Chao K.R., England E.M., Laricchia K.M., Mullen T., Valkanas E., Xu L., Bertoli M., Blain A., Casasus A.B., Duff J., Mroczek M., Specht S., Lek M., Ensini M., MacArthur D.G., Akay E., Alonso-Perez J., Baets J., Barisic N., Bastian A., Borell S., Chamova T., Claeys K., Colomer J., Coppens S., Deconinck N., de Ridder W., Diaz-Manera J., Dominguez-Gonzalez C., Duncan A., Durmus H., Fahmy N.A., Farrugia M.E., Fernandez-Torron R., Gonzalez-Quereda L., Haberlova J., von der Hagen M., Hahn A., Jakovcevic A., JericoPascual I., Kapetanovic S., Kenina V., Kirschner J., Klein A., Kolbel H., Kostera-Pruszczyk A., Kulshrestha R., Lahdetie J., Layegh M., Longman C., Lopezde Munain A., Loscher W., Lusakowska A., Maddison P., Magot A., Majumdar A., Marti P., MartinezArroyo A., Mazanec R., Mercier S., Mongini T., Muelas N., Nascimento A., Nafissi S., Omidi S., Ortez C., Paquay S., Pereon Y., Peric S., Ponzalino V., Rakocevic Stojanovic V., Remiche G., RodriguezSainz A., Rudnik S., SanchezAlbisua I., Santos M., Schara U., Shatillo A., Sertic J., Stephani U., Strang-Karlsson S., Sznajer Y., Tanev A., Tournev I., Van den Bergh P., Van Parijs V., Vilchez J., Vill K., Vissing J., Wallgren-Pettersson C., Wanschitz J., Willis T., Witting N., Zulaica M., Straub V.

مصطلحات موضوعية: genetic diagnosi, limb-girdle weakne, neuromuscular disease, next-generation sequencing, targeted exome analysis

Relation: info:eu-repo/semantics/altIdentifier/pmid/32528171; info:eu-repo/semantics/altIdentifier/wos/WOS:000539889800001; volume:22; issue:9; firstpage:1478; lastpage:1488; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/2318/1786318; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086267166

الاتاحة: http://hdl.handle.net/2318/1786318
https://doi.org/10.1038/s41436-020-0840-3

المؤلفون: Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, Lotze, T.

المصدر: Pediatric Neurology Briefs
Journal of Comparative Effectiveness Research

مصطلحات موضوعية: safety, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Neurosurgery, STRIDE, effectiveness, Duchenne Muscular Dystrophy, Pediatrics, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Child Development, STRIDE Registry, International database, Internal medicine, medicine, Humans, In patient, Registries, Child, 030304 developmental biology, Pediatric, 0303 health sciences, Brain Diseases, Oxadiazoles, business.industry, Health Policy, Disease progression, Infant, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Treatment Outcome, chemistry, Neurology, Muscle Disorders, Codon, Nonsense, Neuromuscular, Propensity score matching, dystrophin, Nervous System Diseases, business, 030217 neurology & neurosurgery, Natural history study, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c3d73c52768050ba6c0561d601a50f
http://europepmc.org/articles/PMC7718099

المؤلفون: Kolbel H

المصدر: Archiv für Gynäkologie. 186:294-298

مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, business.industry, Obstetrics and Gynecology, General Medicine, biology.organism_classification, Fluorescence, Mycobacterium tuberculosis, Medicine, Microscopic method, business, Value (mathematics), Menstrual blood

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35f6634b128c9889d8c9cc3455a5c5e8
https://doi.org/10.1007/bf02124578