المؤلفون: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E

المصدر: Neurology. 91(13):E1215-E1219

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139754915

المؤلفون: Shieh P. B., Kuntz N. L., Dowling J. J., Muller-Felber W., Bonnemann C. G., Seferian A. M., Servais L., Smith B. K., Muntoni F., Blaschek A., Foley A. R., Saade D. N., Neuhaus S., Alfano L. N., Beggs A. H., Buj-Bello A., Childers M. K., Duong T., Graham R. J., Jain M., Coats J., MacBean V., James E. S., Lee J., Mavilio F., Miller W., Varfaj F., Murtagh M., Han C., Noursalehi M., Lawlor M. W., Prasad S., Rico S.

المساهمون: Shieh, P. B., Kuntz, N. L., Dowling, J. J., Muller-Felber, W., Bonnemann, C. G., Seferian, A. M., Servais, L., Smith, B. K., Muntoni, F., Blaschek, A., Foley, A. R., Saade, D. N., Neuhaus, S., Alfano, L. N., Beggs, A. H., Buj-Bello, A., Childers, M. K., Duong, T., Graham, R. J., Jain, M., Coats, J., Macbean, V., James, E. S., Lee, J., Mavilio, F., Miller, W., Varfaj, F., Murtagh, M., Han, C., Noursalehi, M., Lawlor, M. W., Prasad, S., Rico, S.

Relation: info:eu-repo/semantics/altIdentifier/pmid/37977713; info:eu-repo/semantics/altIdentifier/wos/WOS:001114755000001; volume:22; issue:12; firstpage:1125; lastpage:1139; journal:LANCET NEUROLOGY; https://hdl.handle.net/11380/1352586; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177075437

الاتاحة: https://hdl.handle.net/11380/1352586
https://doi.org/10.1016/S1474-4422(23)00313-7

المؤلفون: Wang, CH, Dowling, JJ, North, K, Schroth, MK, Sejersen, T, Shapiro, F, Bellini, J, Weiss, H, Guillet, M, Amburgey, K, Apkon, S, Bertini, E, Bonnemann, C, Clarke, N, Connolly, AM, Estournet-Mathiaud, B, Fitzgerald, D, Florence, JM, Gee, R, Gurgel-Giannetti, J, Glanzman, AM, Hofmeister, B, Jungbluth, H, Koumbourlis, AC, Laing, NG, Main, M, Morrison, LA, Munns, C, Rose, K, Schuler, PM, Sewry, C, Storhaug, K, Vainzof, M, Yuan, N

المصدر: Journal of child neurology. 27(3):363-382

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:124305099

المؤلفون: Nagy, S, Lau, T, Alavi, S, Karimiani, EG, Vallian, J, Ng, BG, Noroozi Asl, S, Akhondian, J, Bahreini, A, Yaghini, O, Uapinyoying, P, Bonnemann, C, Freeze, HH, Dissanayake, VHW, Sirisena, ND, Schmidts, M, Houlden, H, Moreno-De-Luca, A, Maroofian, R

وصف الملف: application/pdf; image/jpeg

Relation: https://openaccess.sgul.ac.uk/id/eprint/115052/1/Clinical%20Genetics%20-%202022%20-%20Nagy%20-%20A%20recurrent%20homozygous%20missense%20DPM3%20variant%20leads%20to%20muscle%20and%20brain%20disease.pdf; https://openaccess.sgul.ac.uk/id/eprint/115052/6/cge14208-sup-0001-figures1.jpg; https://openaccess.sgul.ac.uk/id/eprint/115052/11/cge14208-sup-0002-figures2.jpg; Nagy, S; Lau, T; Alavi, S; Karimiani, EG; Vallian, J; Ng, BG; Noroozi Asl, S; Akhondian, J; Bahreini, A; Yaghini, O; et al. Nagy, S; Lau, T; Alavi, S; Karimiani, EG; Vallian, J; Ng, BG; Noroozi Asl, S; Akhondian, J; Bahreini, A; Yaghini, O; Uapinyoying, P; Bonnemann, C; Freeze, HH; Dissanayake, VHW; Sirisena, ND; Schmidts, M; Houlden, H; Moreno-De-Luca, A; Maroofian, R (2022) A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Clin Genet, 102 (6). pp. 530-536. ISSN 1399-0004 https://doi.org/10.1111/cge.14208 SGUL Authors: Karimiani, Ehsan Ghayoor

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115052/
https://openaccess.sgul.ac.uk/id/eprint/115052/1/Clinical%20Genetics%20-%202022%20-%20Nagy%20-%20A%20recurrent%20homozygous%20missense%20DPM3%20variant%20leads%20to%20muscle%20and%20brain%20disease.pdf
https://openaccess.sgul.ac.uk/id/eprint/115052/6/cge14208-sup-0001-figures1.jpg
https://openaccess.sgul.ac.uk/id/eprint/115052/11/cge14208-sup-0002-figures2.jpg
https://doi.org/10.1111/cge.14208

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

Relation: 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/11571/1348616; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85039991338

الاتاحة: http://hdl.handle.net/11571/1348616
https://doi.org/10.1136/jnnp-2017-316736

المؤلفون: Doreswamy, K., Foley, R., Norato, G., Waite, M., Acquaye, N., Hinkley, L., Alfano, L., Lowes, L., Bonnemann, C., Jain, M.

المصدر: Neuromuscular Disorders ; volume 33, page S159 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.367
https://api.elsevier.com/content/article/PII:S0960896623005473?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623005473?httpAccept=text/plain

المؤلفون: Bharucha-Goebel, D., Saade, D., Todd, J., Huryn, L., Norato, G., DeLong, T., Averion, G., Donkervoort, S., Foley, A., Acquaye, N., Mendoza, C., Gray, S., Zein, W., Bonnemann, C.

المصدر: Neuromuscular Disorders ; volume 33, page S189 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.482
https://api.elsevier.com/content/article/PII:S0960896623006624?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623006624?httpAccept=text/plain

المؤلفون: Zorzato, Francesco, Treves, Susan Nella, Schartner, V., Romero, N. B., Donkervoort, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Neto, O. A., Brochier, G., Lornage, X., Eymard, B., Taratuto, A. L., Böhm, J., Gonorazky, H., Ramos-Platt, L., Feng, L., Phadke, R., Bharucha-Goebel, D. X., Sumner, C. J., Bui, M. T., Lacene, E., Beuvin, M., Labasse, C., Dondaine, N., Schneider, R., Thompson, J., Boland, A., Deleuze, J. -F., Matthews, E., Pakleza, A. N., Sewry, C. A., Biancalana, V., Quijano-Roy, S., Muntoni, Francesco, Fardeau, M., Bönnemann C. G., Laporte, J.

المساهمون: Zorzato, Francesco, Treves, Susan Nella, Schartner, V., Romero, N. B., Donkervoort, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Neto, O. A., Brochier, G., Lornage, X., Eymard, B., Taratuto, A. L., Böhm, J., Gonorazky, H., Ramos-Platt, L., Feng, L., Phadke, R., Bharucha-Goebel, D. X., Sumner, C. J., Bui, M. T., Lacene, E., Beuvin, M., Labasse, C., Dondaine, N., Schneider, R., Thompson, J., Boland, A., Deleuze, J. -F., Matthews, E., Pakleza, A. N., Sewry, C. A., Biancalana, V., Quijano-Roy, S., Muntoni, Francesco, Fardeau, M., Bönnemann, C. G., Laporte, J.

مصطلحات موضوعية: Centronuclear myopathy, Congenital myopathy, Core myopathy, DHPR, Excitation–contraction coupling, Myotubular myopathy, Triad

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28012042; info:eu-repo/semantics/altIdentifier/wos/WOS:000397315500002; volume:133; issue:4; firstpage:517; lastpage:533; numberofpages:15; journal:ACTA NEUROPATHOLOGICA; http://hdl.handle.net/11392/2363523; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85007190235; https://link.springer.com/article/10.1007/s00401-016-1656-8; https://discovery.ucl.ac.uk/id/eprint/10051648/1/Matthews 161207DHPRmanuscript post revisions.pdf

الاتاحة: http://hdl.handle.net/11392/2363523
https://doi.org/10.1007/s00401-016-1656-8
https://link.springer.com/article/10.1007/s00401-016-1656-8
https://discovery.ucl.ac.uk/id/eprint/10051648/1/Matthews 161207DHPRmanuscript post revisions.pdf

المؤلفون: Hoffman E P, Bonnemann C, Boutin M, Brais B, Buccella F, Burghes A, Coffey C, Dasgupta N, Dawkins H, De Luca Annamaria, Dowd C, Duong T, Eagle M, Finkel R, Furlong P, Gagnon C, Goemans N, Guglieri M, Hathout Y, Johnson N, Kakkis E, Kaufmann P, Kimmelman J, Korngut L, Kullman J, Lochmüller H, Marini S, McDonald C, Mohan C, Morgenroth L, Morizono H, Nagaraju K, Porter J, Reilly L, Rüegg M, Schneider J, Spitali P, Straub V, Sweeney L, Tasca G, Turner C, Veldhuizen O, Verschuuren J, Ward S, Willmann R

المساهمون: Hoffman, E P, Bonnemann, C, Boutin, M, Brais, B, Buccella, F, Burghes, A, Coffey, C, Dasgupta, N, Dawkins, H, DE LUCA, Annamaria, Dowd, C, Duong, T, Eagle, M, Finkel, R, Furlong, P, Gagnon, C, Goemans, N, Guglieri, M, Hathout, Y, Johnson, N, Kakkis, E, Kaufmann, P, Kimmelman, J, Korngut, L, Kullman, J, Lochmüller, H, Marini, S, Mcdonald, C, Mohan, C, Morgenroth, L, Morizono, H, Nagaraju, K, Porter, J, Reilly, L, Rüegg, M, Schneider, J, Spitali, P, Straub, V, Sweeney, L, Tasca, G, Turner, C, Veldhuizen, O, Verschuuren, J, Ward, S, Willmann, R

مصطلحات موضوعية: no key words available

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000404491000014; volume:27; issue:7; firstpage:693; lastpage:701; numberofpages:9; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11586/208852; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018567245

الاتاحة: http://hdl.handle.net/11586/208852
https://doi.org/10.1016/j.nmd.2017.02.013

المؤلفون: Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y. Q., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., Beetz, C., Sedghi, M., Ansari, B., Barresi, R., Basiri, K., Cortese, A., Elgar, G., Fernandez-Garcia, M. A., Yip, J., Foley, A. R., Gutowski, N., Jungbluth, H., Lassche, S., Lavin, T., Marcelis, C., Marks, P., Marini-Bettolo, C., Medne, L., Moslemi, Ali-Reza, Sarkozy, A., Reilly, M. M., Muntoni, F., Millan, F., Muraresku, C. C., Need, A. C., Nemeth, A. H., Neuhaus, S. B., Norwood, F., O'Donnell, M., O'Driscoll, M., Rankin, J., Yum, S. W., Zolkipli-Cunningham, Z., Brusius, I., Wunderlich, G., Karakaya, M., Wirth, B., Fakhro, K. A., Tajsharghi, H., Bonnemann, C. G., Taylor, J. C., Houlden, H.

المصدر: Brain : a journal of neurology. 144:584-600

مصطلحات موضوعية: Neurosciences, Neurovetenskaper, hereditary motor and sensory neuropathies, nerve conduction studies, EMG, genetics: neuropathy, whole-genome sequencing, matrix protein warp, zebrafish, mutations, model, genotype, sequence, genome, Neurosciences & Neurology

URL الوصول: https://gup.ub.gu.se/publication/305559

المؤلفون: Perez, GF, Shieh, P, Kuntz, N, Dowling, J, Mueller-Felber, W, Blaschek, A, Bonnemann, C, Foley, A, Saade, D, Seferian, A, Servais, L, Lawlor, M, MacBean, V, Coats, J, Han, C, Lee, J, Noursalehi, M, Prasad, S, Rico, S, Miller, W, Graham, R

وصف الملف: 1 - 3; Print-Electronic

Relation: American Journal of Respiratory and Critical Care Medicine; A3003; Perez, G.F., Shieh, P., Kuntz, N., Dowling, J.J., Müller-Felber, W., Blaschek, A., Bönnemann, C., Foley, A.R., Saade, D., Seferian, A.M.S., Servais, V., Lawlor, M., MacBean, V., Coats J.,Han C., Lee J., Noursalehi M., Prasad S., Rico, S., Miller, W. and Graham, R.J. (2022) 'Improved Respiratory Outcomes for X-Linked Myotubular Myopathy (XLMTM) with Gene Replacement Therapy, Resamirigene Bilparvovec (ASPIRO): Preliminary Results from ASPIRO, a Phase 1/2/3 Study', American Journal of Respiratory and Critical Care Medicine, 205, A3003, pp. 1-3. doi:10.1164/ajrccm-conference.2022.205.1_MeetingAbstracts.A3003.; https://bura.brunel.ac.uk/handle/2438/24737; https://doi.org/10.1164/ajrccm-conference.2022.205.1_MeetingAbstracts.A3003

الاتاحة: https://bura.brunel.ac.uk/handle/2438/24737
https://doi.org/10.1164/ajrccm-conference.2022.205.1_MeetingAbstracts.A3003

المؤلفون: Oates, E, Jones, K, Donkervoort, S, Charlton, A, Brammah, S, Smith, J, Ware, J, Yau, K, Swanson, L, Whiffin, N, Peduto, A, Bournazos, A, Waddell, L, Farrar, M, Sampaio, H, Teoh, H, Lamont, P, Mowat, D, Fitzsimmons, R, Corbett, A, Ryan, M, O'Grady, G, Sandaradura, S, Ghaoui, R, Joshi, H, Marshall, J, Nolan, M, Kaur, S, Punetha, J, Topf, A, Harris, E, Bakshi, M, Genetti, C, Marttila, M, Werkauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M, Foley, A, Bharucha-Goeber, D, Collins, J, Connolly, A, Gilbreath, H, Iannaccone, S, Castro, D, Cummings, B, Webster, R, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H, Thomas, N, Foulds, N, Illingworth, M, Ellard, S, McLean, C, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Clarke, N, Lek, M, Beggs, A, Bonnemann, C, MacArthur, D, Granzier, H, Davis, M, Laing, N

المصدر: urn:ISSN:0364-5134 ; urn:ISSN:1531-8249 ; Annals or Neurology, 83, 6, 1105-1124

مصطلحات موضوعية: 32 Biomedical and Clinical Sciences, 3201 Cardiovascular Medicine and Haematology, Congenital Structural Anomalies, Genetics, Rare Diseases, Cardiovascular, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Musculoskeletal, Cardiomyopathy, Dilated, Connectin, Female, Humans, Male, Muscle Proteins, Muscle, Skeletal, Mutation, Phenotype, Protein Isoforms, anzsrc-for: 32 Biomedical and Clinical Sciences, anzsrc-for: 3201 Cardiovascular Medicine and Haematology, anzsrc-for: 111403 Paediatrics, anzsrc-for: 110904 Neurology and Neuromuscular Diseases, anzsrc-for: 1103 Clinical Sciences, anzsrc-for: 1109 Neurosciences, anzsrc-for: 3202 Clinical sciences, anzsrc-for: 3209 Neurosciences

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_62223; https://doi.org/10.1002/ana.25241

الاتاحة: http://hdl.handle.net/1959.4/unsworks_62223
https://unsworks.unsw.edu.au/bitstreams/6deca7d7-eccf-445d-b5de-cf095ff7c3f0/download
https://doi.org/10.1002/ana.25241

المؤلفون: Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara S. M., D'Angelo, M. Grazia, Bernert, Günther, Cuisset, Jean Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Buyse, Gunnar M, Bernert, G., Knipp, F., Buyse, G. M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J. M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., Vílchez Padilla, J. J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., Mcdonald, C., Henricson, E., Joyce, N., Mcdonald, Craig M., Apkon, S., Richardson, R. C., POLITANO, Luisa

المساهمون: Meier, Thoma, Voit, Thoma, Schara, Ulrike, Straathof, Chiara S. M., D'Angelo, M. Grazia, Bernert, Günther, Cuisset, Jean Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Buyse, Gunnar M, Bernert, G., Knipp, F., Buyse, G. M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J. M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, Luisa, D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., Vílchez Padilla, J. J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., Mcdonald, C., Henricson, E., Joyce, N., Mcdonald, Craig M., Apkon, S., Richardson, R. C.

مصطلحات موضوعية: Airway infection, Duchenne muscular dystrophy, Idebenone, Respiratory function, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical)

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000381545300001; volume:26; issue:8; firstpage:473; lastpage:480; numberofpages:8; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11591/368569; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84969972170; www.elsevier.com/locate/nmd

الاتاحة: http://hdl.handle.net/11591/368569
https://doi.org/10.1016/j.nmd.2016.05.008

المؤلفون: Dabaj, I., Ben Yaou, R., Bonnemann, C., Nascimento, A., Rutkowski, A., Erazo Torricelli, R., Muntoni, F., Lagrue, E., Dowling, J., Bushby, K., Casteglioni, C., Kleinsteuber Saa, Karin, Lorenzo, M., Ishiyama, A., Sejersen, T., Gurgel Giannetti, J., Monges, S., Bonne, G., Quijano roy, S.

المصدر: Neuromuscular Disorders

وصف الملف: application/pdf

Relation: Neuromuscular Disorders 27 (2017) S96–S249; https://repositorio.uchile.cl/handle/2250/148665

الاتاحة: https://doi.org/10.1016/j.nmd.2017.06.167
https://repositorio.uchile.cl/handle/2250/148665

المؤلفون: Donkervoort, S., Kutzner, C. E., Hu, Y., Lornage, X., Rendu, J., Stojkovic, T., Baets, J., Neuhaus, S. B., Tanboon, J., Maroofian, R., Bolduc, V., Mroczek, M., Conijn, S., Kuntz, N. L., Topf, A., Monges, S., Lubieniecki, F., McCarty, R. M., Chao, K. R., Governali, S., Bohm, J., Boonyapisit, K., Malfatti, E., Sangruchi, T., Horkayne-Szakaly, I., Oldfors Hedberg, Carola, 1969, Efthymiou, S., Noguchi, S., Djeddi, S., Iida, A., di Rosa, G., Fiorillo, C., Salpietro, V., Darin, Niklas, 1964, Faure, J., Houlden, H., Oldfors, Anders, 1951, Nishino, I., de Ridder, W., Straub, V., Pokrzywa, W., Laporte, J., Foley, A. R., Romero, N. B., Ottenheijm, C., Hoppe, T., Bonnemann, C. G.

المصدر: American Journal of Human Genetics. 107(6):1078-1095

مصطلحات موضوعية: Microbiology in the Medical Area, Mikrobiologi inom det medicinska området, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/301029

المؤلفون: Ardicli, D., Yoon, G., Straub, V., Bonnemann, C., Donkervoort, S., Valivullah, Z., Chao, K., Ravenscroft, G., Nowak, K., Specht, S., Duff, J., Alikasifoglu, M., Orhan, D., Hernandez Lain, A., Topaloglu, H., Kapetanovic Garcia, S., Farrugia, M., Longman, C., Mroczek, M.

الاتاحة: https://avesis.hacettepe.edu.tr/publication/details/5b8ac65b-4da7-4235-98ab-f6ca7b19d587/oai

المؤلفون: Schneider A. L., Myers C. T., Muir A. M., Calvert S., Basinger A., Perry M. S., Rodan L., Helbig K. L., Chambers C., Gorman K. M., King M. D., Donkervoort S., Soldatos A., Bonnemann C. G., Spataro N., Gabau E., Arellano M., Cappuccio G., Brunetti Pierri N., Rossignol E., Hamdan F. F., Michaud J. L., Balak C., Mefford H. C., Scheffer I. E.

المساهمون: Schneider, A. L., Myers, C. T., Muir, A. M., Calvert, S., Basinger, A., Perry, M. S., Rodan, L., Helbig, K. L., Chambers, C., Gorman, K. M., King, M. D., Donkervoort, S., Soldatos, A., Bonnemann, C. G., Spataro, N., Gabau, E., Arellano, M., Cappuccio, G., Brunetti Pierri, N., Rossignol, E., Hamdan, F. F., Michaud, J. L., Balak, C., Mefford, H. C., Scheffer, I. E.

مصطلحات موضوعية: developmental and epileptic encephalopathy, FBXO28, movement disorder, profound intellectual disability

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000595761300001; volume:62; issue:1; firstpage:13; lastpage:21; numberofpages:9; journal:EPILEPSIA; http://hdl.handle.net/11588/828766; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097098524

الاتاحة: http://hdl.handle.net/11588/828766
https://doi.org/10.1111/epi.16784

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: Mercuri, Eugenio Maria, Bonnemann, C. G., Muntoni, F.

المصدر: The Lancet. 394:2025-2038

مصطلحات موضوعية: Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, General Medicine, Muscular Dystrophies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::175c2054f7d673c2595202edfe0fe129
https://doi.org/10.1016/s0140-6736(19)32910-1

المؤلفون: Servian-Morilla E., Cabrera-Serrano M., Johnson K., Pandey A., Ito A., Rivas E., Chamova T., Muelas N., Mongini T., Nafissi S., Claeys K. G., Grewal R. P., Takeuchi M., Hao H., Bonnemann C., Lopes Abath Neto O., Medne L., Brandsema J., Topf A., Taneva A., Vilchez J. J., Tournev I., Haltiwanger R. S., Takeuchi H., Jafar-Nejad H., Straub V., Paradas C.

المساهمون: Servian-Morilla E., Cabrera-Serrano M., Johnson K., Pandey A., Ito A., Rivas E., Chamova T., Muelas N., Mongini T., Nafissi S., Claeys K.G., Grewal R.P., Takeuchi M., Hao H., Bonnemann C., Lopes Abath Neto O., Medne L., Brandsema J., Topf A., Taneva A., Vilchez J.J., Tournev I., Haltiwanger R.S., Takeuchi H., Jafar-Nejad H., Straub V., Paradas C.

مصطلحات موضوعية: Muscle dystrophy, Notch, POGLUT1, Satellite cell, α-Dystroglycan

Relation: info:eu-repo/semantics/altIdentifier/pmid/31897643; info:eu-repo/semantics/altIdentifier/wos/WOS:000505381000001; volume:139; issue:3; firstpage:565; lastpage:582; numberofpages:18; journal:ACTA NEUROPATHOLOGICA; http://hdl.handle.net/2318/1786327; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85077281157

الاتاحة: http://hdl.handle.net/2318/1786327
https://doi.org/10.1007/s00401-019-02117-6