المؤلفون: Suetterlin, K, Matthews, E, Sud, R, McCall, S, Fialho, D, Burge, J, Jayaseelan, D, Haworth, A, Sweeney, MG, Kullmann, DM, Schorge, S, Hanna, MG, Männikkö, R

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113743/11/awab344.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113743/6/awab344_supplementary_data.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113743/1/awab344.pdfTest; Suetterlin, K; Matthews, E; Sud, R; McCall, S; Fialho, D; Burge, J; Jayaseelan, D; Haworth, A; Sweeney, MG; Kullmann, DM; et al. Suetterlin, K; Matthews, E; Sud, R; McCall, S; Fialho, D; Burge, J; Jayaseelan, D; Haworth, A; Sweeney, MG; Kullmann, DM; Schorge, S; Hanna, MG; Männikkö, R (2022) Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. Brain, 145 (2). pp. 607-620. ISSN 1460-2156 https://doi.org/10.1093/brain/awab344Test SGUL Authors: Haworth, Andrea Matthews, Emma Louise

الإتاحة: https://doi.org/10.1093/brain/awab344Test
https://openaccess.sgul.ac.uk/id/eprint/113743Test/
https://openaccess.sgul.ac.uk/id/eprint/113743/11/awab344.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113743/6/awab344_supplementary_data.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113743/1/awab344.pdfTest

المؤلفون: Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL.

المساهمون: Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, Le, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, Gv, Simpson, Ma, Rich, P, Al-Salmi, F, Patton, Ma, Chioza, Ba, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, Mg, Pucci, P, Houlden, H, Lupski, Jr, Crosby, Ah, Baple, El.

مصطلحات موضوعية: PRUNE1, developmental delay, microcephaly, microtubule polymerization, tubulinopathy, normal brain development

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28334956; info:eu-repo/semantics/altIdentifier/wos/WOS:000397319400018; volume:140; issue:4; firstpage:940; lastpage:952; numberofpages:13; journal:BRAIN; http://hdl.handle.net/11570/3120469Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85021308492; https://academic.oup.com/brain/article/140/4/940/3058658Test

الإتاحة: https://doi.org/10.1093/brain/awx014Test
http://hdl.handle.net/11570/3120469Test
https://academic.oup.com/brain/article/140/4/940/3058658Test

المؤلفون: Vivekanandam, V, Männikkö, R, Skorupinska, I, Germain, L, Gray, B, Wedderburn, S, Kozyra, D, Sud, R, James, N, Holmes, S, Savvatis, K, Fialho, D, Merve, A, Pattni, J, Farrugia, M, Behr, ER, Marini-Bettolo, C, Hanna, MG, Matthews, E

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::669d9a7a88132b38d6ed0a0e62dc137eTest
https://openaccess.sgul.ac.uk/id/eprint/113976/1/awab445.pdfTest

المؤلفون: Zollo, M, Ahmed, M, Ferrucci, V, Salpietro, V, Asadzadeh, F, Carotenuto, M, Maroofian, R, Al-Amri, A, Singh, R, Scognamiglio, I, Mojarrad, M, Musella, L, Duilio, A, Di Somma, A, Karaca, E, Rajab, A, Al-Khayat, A, Mohan Mohapatra, T, Eslahi, A, Ashrafzadeh, F, Rawlins, LE, Prasad, R, Gupta, R, Kumari, P, Srivastava, M, Cozzolino, F, Kumar Rai, S, Monti, M, Harlalka, GV, Simpson, MA, Rich, P, Al-Salmi, F, Patton, MA, Chioza, BA, Efthymiou, S, Granata, F, Di Rosa, G, Wiethoff, S, Borgione, E, Scuderi, C, Mankad, K, Hanna, MG, Pucci, P, Houlden, H, Lupski, JR, Crosby, AH, Baple, EL

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/108821/1/awx014.pdfTest; Zollo, M; Ahmed, M; Ferrucci, V; Salpietro, V; Asadzadeh, F; Carotenuto, M; Maroofian, R; Al-Amri, A; Singh, R; Scognamiglio, I; et al. Zollo, M; Ahmed, M; Ferrucci, V; Salpietro, V; Asadzadeh, F; Carotenuto, M; Maroofian, R; Al-Amri, A; Singh, R; Scognamiglio, I; Mojarrad, M; Musella, L; Duilio, A; Di Somma, A; Karaca, E; Rajab, A; Al-Khayat, A; Mohan Mohapatra, T; Eslahi, A; Ashrafzadeh, F; Rawlins, LE; Prasad, R; Gupta, R; Kumari, P; Srivastava, M; Cozzolino, F; Kumar Rai, S; Monti, M; Harlalka, GV; Simpson, MA; Rich, P; Al-Salmi, F; Patton, MA; Chioza, BA; Efthymiou, S; Granata, F; Di Rosa, G; Wiethoff, S; Borgione, E; Scuderi, C; Mankad, K; Hanna, MG; Pucci, P; Houlden, H; Lupski, JR; Crosby, AH; Baple, EL (2017) PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140 (4). pp. 940-952. ISSN 1460-2156 https://doi.org/10.1093/brain/awx014Test SGUL Authors: Patton, Michael Alexander

الإتاحة: https://doi.org/10.1093/brain/awx014Test
https://openaccess.sgul.ac.uk/id/eprint/108821Test/
https://openaccess.sgul.ac.uk/id/eprint/108821/1/awx014.pdfTest

المؤلفون: Jaffer, F, Avbersek, A, Vavassori, R, Fons, C, Campistol, J, Stagnaro, M, De Grandis, E, Veneselli, E, Rosewich, H, Gianotta, M, Zucca, C, Ragona, F, Granata, T, Nardocci, N, Mikati, M, Helseth, AR, Boelman, C, Minassian, BA, Johns, S, Garry, SI, Scheffer, IE, Gourfinkel-An, I, Carrilho, I, Aylett, SE, Parton, M, Hanna, MG, Houlden, H, Neville, B, Kurian, MA, Novy, J, Sander, JW, Lambiase, PD, Behr, ER, Schyns, T, Arzimanoglou, A, Cross, JH, Kaski, JP, Sisodiya, SM

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/107604/1/Faulty%20cardiac%20repolarization%20reserve%20in%20alternating%20hemiplegia%20of%20childhood%20broadens%20the%20phenotype.pdfTest; Jaffer, F; Avbersek, A; Vavassori, R; Fons, C; Campistol, J; Stagnaro, M; De Grandis, E; Veneselli, E; Rosewich, H; Gianotta, M; et al. Jaffer, F; Avbersek, A; Vavassori, R; Fons, C; Campistol, J; Stagnaro, M; De Grandis, E; Veneselli, E; Rosewich, H; Gianotta, M; Zucca, C; Ragona, F; Granata, T; Nardocci, N; Mikati, M; Helseth, AR; Boelman, C; Minassian, BA; Johns, S; Garry, SI; Scheffer, IE; Gourfinkel-An, I; Carrilho, I; Aylett, SE; Parton, M; Hanna, MG; Houlden, H; Neville, B; Kurian, MA; Novy, J; Sander, JW; Lambiase, PD; Behr, ER; Schyns, T; Arzimanoglou, A; Cross, JH; Kaski, JP; Sisodiya, SM (2015) Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Brain, 138 (Pt 10). pp. 2859-2874. ISSN 1460-2156 https://doi.org/10.1093/brain/awv243Test SGUL Authors: Behr, Elijah Raphael

الإتاحة: https://doi.org/10.1093/brain/awv243Test
https://openaccess.sgul.ac.uk/id/eprint/107604Test/
https://openaccess.sgul.ac.uk/id/eprint/107604/1/Faulty%20cardiac%20repolarization%20reserve%20in%20alternating%20hemiplegia%20of%20childhood%20broadens%20the%20phenotype.pdfTest

المؤلفون: Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenco CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H

المصدر: Brain, 1 November 2017

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=243098/E0B15850-CC21-4D02-96A4-77FBC7374164.pdf&pub_id=243098Test