检索结果 - Manzur, Adnan

Corticosteroids for the treatment of Duchenne muscular dystrophy 由 Matthews, Emma, Brassington, Ruth, Kuntzer, Thierry, Jichi, Fatima, Manzur, Adnan Y

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Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding 由 Roi, Dylan, Mankad, Kshitij, Kaliakatsos, Marios, Cleary, Maureen, Manzur, Adnan, D’Arco, Felice

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Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report 由 Jethwa, Hannah, Jacques, Thomas S, Gunny, Roxanna, Wedderburn, Lucy R, Pilkington, Clarissa, Manzur, Adnan Y

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Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy 由 Zambon, Alberto A., Ayyar Gupta, Vandana, Ridout, Deborah, Manzur, Adnan Y., Baranello, Giovanni, Trucco, Federica, Muntoni, Francesco

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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy 由 Muntoni, Francesco, Domingos, Joana, Manzur, Adnan Y., Mayhew, Anna, Guglieri, Michela, Sajeev, Gautam, Signorovitch, James, Ward, Susan J.

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Growth pattern trajectories in boys with Duchenne muscular dystrophy 由 Stimpson, Georgia, Raquq, Sarah, Chesshyre, Mary, Fewtrell, Mary, Ridout, Deborah, Sarkozy, Anna, Manzur, Adnan, Ayyar Gupta, Vandana, De Amicis, Ramona, Muntoni, Francesco, Baranello, Giovanni

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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing 由 Scoto, Mariacristina, Cullup, Thomas, Cirak, Sebahattin, Yau, Shu, Manzur, Adnan Y, Feng, Lucy, Jacques, Thomas S, Anderson, Glenn, Abbs, Stephen, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco

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Congenital myopathies: Natural history of a large pediatric cohort 由 Colombo, Irene, Scoto, Mariacristina, Manzur, Adnan Y., Robb, Stephanie A., Maggi, Lorenzo, Gowda, Vasantha, Cullup, Thomas, Yau, Michael, Phadke, Rahul, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco

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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome 由 Horga, Alejandro, Tomaselli, Pedro J., Gonzalez, Michael A., Laurà, Matilde, Muntoni, Francesco, Manzur, Adnan Y., Hanna, Michael G., Blake, Julian C., Houlden, Henry, Züchner, Stephan, Reilly, Mary M.

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Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort 由 Brunet Garcia, Laia, Hajra, Ankita, Field, Ella, Wacher, Joseph, Walsh, Helen, Norrish, Gabrielle, Manzur, Adnan, Muntoni, Francesco, Munot, Pinki, Robb, Stephanie, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Sarkozy, Anna, Starling, Luke, Kaski, Juan Pablo, Cervi, Elena

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Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy 由 O’Connor, Emer, Vandrovcova, Jana, Bugiardini, Enrico, Chelban, Viorica, Manole, Andreea, Davagnanam, Indran, Wiethoff, Sarah, Pittman, Alan, Lynch, David S, Efthymiou, Stephanie, Marino, Silvia, Manzur, Adnan Y, Roberts, Mark, Hanna, Michael G, Houlden, Henry, Matthews, Emma, Wood, Nicholas W

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Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy 由 Chesshyre, Mary, Ridout, Deborah, Hashimoto, Yasumasa, Ookubo, Yoko, Torelli, Silvia, Maresh, Kate, Ricotti, Valeria, Abbott, Lianne, Gupta, Vandana Ayyar, Main, Marion, Ferrari, Giulia, Kowala, Anna, Lin, Yung‐Yao, Tedesco, Francesco Saverio, Scoto, Mariacristina, Baranello, Giovanni, Manzur, Adnan, Aoki, Yoshitsugu, Muntoni, Francesco

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POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan 由 Walimbe, Ameya S, Okuma, Hidehiko, Joseph, Soumya, Yang, Tiandi, Yonekawa, Takahiro, Hord, Jeffrey M, Venzke, David, Anderson, Mary E, Torelli, Silvia, Manzur, Adnan, Devereaux, Megan, Cuellar, Marco, Prouty, Sally, Ocampo Landa, Saul, Yu, Liping, Xiao, Junyu, Dixon, Jack E, Muntoni, Francesco, Campbell, Kevin P

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Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials 由 Silwal, Arpana, Sarkozy, Anna, Scoto, Mariacristina, Ridout, Deborah, Schmidt, Anne, Laverty, Aidan, Henriques, Matilde, D'Argenzio, Luigi, Main, Marion, Mein, Rachael, Manzur, Adnan Y, Abel, Francois, Al‐Ghamdi, Fouad, Genetti, Casie A, Ardicli, Didem, Haliloglu, Goknur, Topaloglu, Haluk, Beggs, Alan H, Muntoni, Francesco

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Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome 由 Salpietro, Vincenzo, Lin, Weichun, Vedove, Andrea Delle, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel‐Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde, Houlden, Henry

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Bi-allelic mutations in MYL1 cause a severe congenital myopathy 由 Ravenscroft, Gianina, Zaharieva, Irina T, Bortolotti, Carlo A, Lambrughi, Matteo, Pignataro, Marcello, Borsari, Marco, Sewry, Caroline A, Phadke, Rahul, Haliloglu, Goknur, Ong, Royston, Goullée, Hayley, Whyte, Tamieka, Consortium, UK10K, Manzur, Adnan, Talim, Beril, Kaya, Ulkuhan, Osborn, Daniel P S, Forrest, Alistair R R, Laing, Nigel G, Muntoni, Francesco

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Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder 由 Natera-de Benito, Daniel, Jurgens, Julie A., Yeung, Alison, Zaharieva, Irina T., Manzur, Adnan, DiTroia, Stephanie P., Di Gioia, Silvio Alessandro, Pais, Lynn, Pini, Veronica, Barry, Brenda J., Chan, Wai-Man, Elder, James E, Christodoulou, John, Hay, Eleanor, England, Eleina M., Munot, Pinki, Hunter, David G., Feng, Lucy, Ledoux, Danielle, O’Donnell-Luria, Anne, Phadke, Rahul, Engle, Elizabeth C., Sarkozy, Anna, Muntoni, Francesco

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A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the... 由 Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations 由 Rodríguez Cruz, Pedro M., Cossins, Judith, de Paula Estephan, Eduardo, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David

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Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial 由 Mah, Jean K., Clemens, Paula R., Guglieri, Michela, Smith, Edward C., Finkel, Richard S., Tulinius, Mar, Nevo, Yoram, Ryan, Monique M., Webster, Richard, Castro, Diana, Kuntz, Nancy L., McDonald, Craig M., Damsker, Jesse M., Schwartz, Benjamin D., Mengle-Gaw, Laurel J., Jackowski, Stefan, Stimpson, Georgia, Ridout, Deborah A., Ayyar-Gupta, Vandana, Baranello, Giovanni, Manzur, Adnan Y., Muntoni, Francesco, Gordish-Dressman, Heather, Leinonen, Mika, Ward, Leanne M., Hoffman, Eric P., Dang, Utkarsh J.

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