Zobrazeno 1 - 10
of 204
pro vyhledávání: '"Adnan Y. Manzur"'
Autor:
Vandana Ayyar Gupta, Jacqueline M. Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Catherine Rye, Mary Chesshyre, Amy Wolfe, Victoria Selby, Anna Mayhew, Elena S. Mazzone, Valeria Ricotti, Jean-Yves Hogrel, Erik H. Niks, Imelda de Groot, Laurent Servais, Volker Straub, Eugenio Mercuri, Adnan Y. Manzur, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 18, Iss 4 (2023)
The North Star ambulatory assessment (NSAA) is a functional motor outcome measure in Duchenne muscular dystrophy (DMD), widely used in clinical trials and natural history studies, as well as in clinical practice. However, little has been reported on
Externí odkaz:
https://doaj.org/article/a350ca5f353944d0a6c92faad79a4f3f
Autor:
Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri
Publikováno v:
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Ov
Externí odkaz:
https://doaj.org/article/59fc2ba5f36543fab1efe37a189c7b3f
Autor:
Arpana Silwal, Anna Sarkozy, Mariacristina Scoto, Deborah Ridout, Anne Schmidt, Aidan Laverty, Matilde Henriques, Luigi D'Argenzio, Marion Main, Rachael Mein, Adnan Y Manzur, Francois Abel, Fouad Al‐Ghamdi, Casie A Genetti, Didem Ardicli, Goknur Haliloglu, Haluk Topaloglu, Alan H Beggs, Francesco Muntoni
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
Abstract Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprot
Externí odkaz:
https://doaj.org/article/8caf97122a55476785146efefd7434e7
Autor:
Francesco Muntoni, Joana Domingos, Adnan Y Manzur, Anna Mayhew, Michela Guglieri, UK NorthStar Network, Gautam Sajeev, James Signorovitch, Susan J Ward
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0221097 (2019)
Functional variability among boys with Duchenne muscular dystrophy (DMD) is well recognised and complicates interpretation of clinical studies. We hypothesised that boys with DMD could be clustered into groups sharing similar trajectories of ambulato
Externí odkaz:
https://doaj.org/article/35e42ca367af4f029ca82ac5cd3a63de
Autor:
Alberto A, Zambon, Vandana, Ayyar Gupta, Deborah, Ridout, Adnan Y, Manzur, Giovanni, Baranello, Federica, Trucco, Francesco, Muntoni, Claire, Rylance
Publikováno v:
Developmental Medicine & Child Neurology. 64:979-988
To correlate the North Star Ambulatory Assessment (NSAA) and timed rise from floor (TRF) recorded at age of expected peak with age at loss of ambulation (LOA) in Duchenne muscular dystrophy (DMD).Male children with DMD enrolled in the UK North Start
Autor:
Evan Baker, Peter Challenor, Ian Bamsey, Francesco Muntoni, Adnan Y. Manzur, Krasimira Tsaneva-Atanasova
Predicting the trajectory of rare degenerative diseases can be extremely beneficial, especially when these predictions are personalised to be relevant for a specific patient. These predictions can help inform and advise patients, families, and clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0ce2d17cc6f79c090ecfe6632fc1b6c
https://doi.org/10.1101/2022.07.28.22278103
https://doi.org/10.1101/2022.07.28.22278103
Autor:
Federica Trucco, Tracey Davis, Renske I. Wadman, Lucia Schottlaender, Mariacristina Scoto, Chiara Brusa, Ramona De Amicis, Giovanni Baranello, Marion Main, Pinki Munot, Adnan Y. Manzur, Francesco Muntoni, Nadia Imbrigiotta, Anna Sarkozy, Simona Bertoli, Alberto Battezzati, Chiara Mastella
Publikováno v:
Neuromuscular Disorders. 31:101-112
Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but effects on co-morbidities like b
Autor:
Alistair T. Pagnamenta, Jenny C. Taylor, Pinki Munot, Adnan Y. Manzur, Mathew Pitt, Jacqueline Palace, Pedro M. Rodríguez Cruz, Imelda Hughes, David Beeson, Sithara Ramdas, Catherine Breen, Ronnie Wright
Publikováno v:
Neuromuscular Disorders. 31:21-28
SLC5A7 encodes the presynaptic sodium-dependant high-affinity choline transporter 1 (CHT), which uptakes choline to the presynaptic nerve terminal following the breakdown of acetylcholine by the acetylcholinesterase within the synaptic cleft. We repo
Autor:
Mariacristina Scoto, A. Silwal, Fouad Al-Ghamdi, R. Mein, Goknur Haliloglu, Adnan Y. Manzur, Marion Main, Deborah Ridout, D. Ardicli, L. D'Argenzio, Haluk Topaloglu, Matilde Henriques, Francesco Muntoni, Anne Schmidt, Aidan Laverty, Casie A. Genetti, Francois Abel, Alan H. Beggs, Anna Sarkozy
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2288-2296 (2020)
Objective To describe clinical features and disease progression of Selenoprotein N‐related myopathy in a large multicenter cohort of patients. Methods Cross‐sectional multicenter data analysis of 60 patients (53 families) with Selenoprotein N‐r
Autor:
Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen
Publikováno v:
American Journal of Human Genetics, 107, 2, pp. 311-324
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet
American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
American journal of human genetics, 107(2), 311-324. Cell Press
American Journal of Human Genetics, 107, 311-324
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
American Journal of Human Genetics, 107(2), 311-324. Cell Press
Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
Am J Hum Genet
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu