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Adnan Y. Manzur

Brain : a journal of neurology, Journal of Medical Genetics, American Journal of Neuroradiology, Pediatric Neurology, The Lancet Regional Health - Europe, Neuropathology and Applied Neurobiology, Neurology, Nature Genetics Show more
8
Role
Title
Level Year L/R
🐜 EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
54 auth. S. Byrne, L. Jansen, J. U-King-im, A. Siddiqui, H. Lidov, I. Bodi, Luke Smith, R. Mein, T. Cullup, C. Dionisi-Vici, L. Al-Gazali, M. Al‐Owain, Z. Bruwer, Khalid Al Thihli, Rana El-Garhy, ... Kevin M. Flanigan, Kandamurugu Manickam, E. Zmuda, Wesley Banks, R. Gershoni-baruch, H. Mandel, E. Dagan, A. Raas‐Rothschild, Hila Barash, F. Filloux, D. Creel, Michael Harris, A. Hamosh, S. Kölker, D. Ebrahimi‐Fakhari, G. Hoffmann, D. Manchester, Philip J. Boyer, Adnan Y. Manzur, C. Lourenco, D. Pilz, Arveen Kamath, P. Prabhakar, Vamshi K. Rao, R. C. Rogers, Monique M. Ryan, Natasha J. Brown, C. Mclean, E. Said, U. Schara, A. Stein, C. Sewry, L. Travan, F. Wijburg, M. Zenker, S. Mohammed, M. Fanto, M. Gautel, H. Jungbluth 		6 2016
6
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🐜 Retrospective natural history of thymidine kinase 2 deficiency
43 auth. C. Garone, Robert W Taylor, A. Nascimento, J. Poulton, C. Fratter, C. Domínguez-González, J. Evans, M. Loos, P. Isohanni, A. Suomalainen, D. Ram, M Imelda Hughes, R. Mcfarland, E. Barca, C. Lopez Gomez, ... S. Jayawant, Neil D Thomas, Adnan Y. Manzur, K. Kleinsteuber, Miguel A. Martín, T. Kerr, G. Gorman, E. Sommerville, P. Chinnery, M. Hofer, C. Karch, J. Ralph, Y. Cámara, M. Madruga‐Garrido, J. Domínguez-Carral, C. Ortez, S. Emperador, J. Montoya, A. Chakrapani, Joshua Kriger, R. Schoenaker, B. Levin, John L P Thompson, Yuelin Long, S. Rahman, Maria Alice Donati, S. Dimauro, M. Hirano 		6 2018
6
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🐜 Cranial Ultrasound in Metabolic Disorders Presenting in the Neonatal Period: Characteristic Features and Comparison with MR Imaging
8 auth. L. M. Leijser, L. S. Vries, M. Rutherford, Adnan Y. Manzur, F. Groenendaal, T. J. D. Koning, ... M. Heide-Jalving, F. M. Cowan 		5 2007
5
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🐬 Retrospective study of late febrile seizures.
David W Webb, Ruth R Jones, Adnan Y. Manzur, Kevin Farrell 		3 1999
3
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🐜 Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom
37 auth. V. Gowda, Mark Atherton, Archana Murugan, L. Servais, J. Sheehan, Emma Standing, Adnan Y. Manzur, M. Scoto, Giovanni Baranello, Pinki Munot, Gary McCullagh, Tracey Willis, S. Tirupathi, Iain Horrocks, Anil Dhawan, ... Michael Eyre, Maria Vanegas, Miguel A. Fernandez-Garcia, A. Wolfe, Laura Pinches, Marjorie A. Illingworth, Marion Main, L. Abbott, Hayley Smith, Emily Milton, Sarah D’Urso, Kayal Vijayakumar, Silvia Sanchez Marco, Sinead Warner, Emily Reading, Isobel Douglas, F. Muntoni, Min Ong, Anirban Majumdar, Imelda Hughes, Heinz Jungbluth, E. Wraige 		3 2023
3
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🐜 TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain
20 auth. Pinki Munot, N. McCrea, S. Torelli, Adnan Y. Manzur, Caroline A. Sewry, Darren Chambers, Lucy Feng, Pierpaolo Ala, I. Zaharieva, N. Ragge, ... H. Roper, T. Marton, P. Cox, M. Milev, W. Liang, S. Maruyama, I. Nishino, M. Sacher, R. Phadke, F. Muntoni 		3 2020
3
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🐜 Congenital myopathies
12 auth. Irene Colombo, M. Scoto, Adnan Y. Manzur, Stephanie A. Robb, Lorenzo Maggi, V. Gowda, ... T. Cullup, Michael Yau, R. Phadke, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni 		3 2015
3
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🐜 Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
85 auth. A. Töpf, D. Cox, I. Zaharieva, Valeria Di Leo, J. Sarparanta, P. Jonson, Ian M Sealy, Andrei Smolnikov, Richard J. White, A. Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M. Laricchia, C. Venturini, ... B. Vroling, S. Stenton, Beryl B. Cummings, Elizabeth Harris, C. Marini-Bettolo, J. Díaz-Manera, Matt Henderson, R. Barresi, J. Duff, E. England, Jane Patrick, Sundos Al-Husayni, V. Biancalana, Alan H. Beggs, I. Bodi, Shobhana Bommireddipalli, Carsten G. Bönnemann, A. Cairns, Mei Chiew, Kristl G. Claeys, Sandra T. Cooper, Mark Davis, S. Donkervoort, C. Erasmus, Mahmoud Fassad, C. Genetti, C. Grosmann, H. Jungbluth, E. Kamsteeg, X. Lornage, W. N. Löscher, E. Malfatti, Adnan Y. Manzur, Pilar Martí, T. E. Mongini, N. Muelas, A. Nishikawa, A. O’Donnell-Luria, N. Ogonuki, G. O'grady, Emily O’Heir, S. Paquay, R. Phadke, B. Pletcher, Norma B. Romero, M. Schouten, Snehal Shah, I. Smuts, Yves Sznajer, G. Tasca, Robert W Taylor, A. Tuite, Peter van den Bergh, G. VanNoy, N. Voermans, J. Wanschitz, E. Wraige, Kimihiko Yoshimura, Emily C. Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, J. J. Vílchez, D. MacArthur, A. Sarkozy, Heather J Cordell, Bjarne Udd, E. Busch-Nentwich, F. Muntoni, Volker Straub 		2 2024
2
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