Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

por Jethwa, Hannah, Jacques, Thomas S, Gunny, Roxanna, Wedderburn, Lucy R, Pilkington, Clarissa, Manzur, Adnan Y
Publicado 2013

Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy

por Zambon, Alberto A., Ayyar Gupta, Vandana, Ridout, Deborah, Manzur, Adnan Y., Baranello, Giovanni, Trucco, Federica, Muntoni, Francesco
Publicado 2022

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

por Ricotti, Valeria, Ridout, Deborah A, Pane, Marika, Main, Marion, Mayhew, Anna, Mercuri, Eugenio, Manzur, Adnan Y, Muntoni, Francesco
Publicado 2016

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

por Muntoni, Francesco, Domingos, Joana, Manzur, Adnan Y., Mayhew, Anna, Guglieri, Michela, Sajeev, Gautam, Signorovitch, James, Ward, Susan J.
Publicado 2019

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

por 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.
Publicado 2016

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

por 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
Publicado 2018

Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials

por 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
Publicado 2020

Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy

por Ayyar Gupta, Vandana, Pitchforth, Jacqueline M., Domingos, Joana, Ridout, Deborah, Iodice, Mario, Rye, Catherine, Chesshyre, Mary, Wolfe, Amy, Selby, Victoria, Mayhew, Anna, Mazzone, Elena S., Ricotti, Valeria, Hogrel, Jean-Yves, Niks, Erik H., de Groot, Imelda, Servais, Laurent, Straub, Volker, Mercuri, Eugenio, Manzur, Adnan Y., Muntoni, Francesco
Publicado 2023

DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials

por Muntoni, Francesco, Signorovitch, James, Sajeev, Gautam, Lane, Henry, Jenkins, Madeline, Dieye, Ibrahima, Ward, Susan J., McDonald, Craig, Goemans, Nathalie, Niks, Erik H., Wong, Brenda, Servais, Laurent, Straub, Volker, Guglieri, Michela, de Groot, Imelda J.M., Chesshyre, Mary, Tian, Cuixia, Manzur, Adnan Y., Mercuri, Eugenio, Aartsma-Rus, Annemieke
Publicado 2023

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

por 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
Publicado 2017

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...

por 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
Publicado 2018

Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial

por 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.
Publicado 2022

Retrospective natural history of thymidine kinase 2 deficiency

por Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Publicado 2018

A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

por Crow, Rebecca A., Hart, Kimberly A., McDermott, Michael P., Tawil, Rabi, Martens, William B., Herr, Barbara E., McColl, Elaine, Wilkinson, Jennifer, Kirschner, Janbernd, King, Wendy M., Eagle, Michele, Brown, Mary W., Hirtz, Deborah, Lochmuller, Hanns, Straub, Volker, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Childs, Anne-Marie, Manzur, Adnan Y., Morandi, Lucia, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Flanigan, Kevin M., Kuntz, Nancy L., Mah, Jean K., Morrison, Leslie, Darras, Basil T., von der Hagen, Maja, Schara, Ulrike, Wilichowski, Ekkehard, Mongini, Tiziana, McDonald, Craig M., Vita, Giuseppe, Barohn, Richard J., Finkel, Richard S., Wicklund, Matthew, McMillan, Hugh J., Hughes, Imelda, Pegoraro, Elena, Bryan Burnette, W., Howard, James F., Thangarajh, Mathula, Campbell, Craig, Griggs, Robert C., Bushby, Kate, Guglieri, Michela
Publicado 2018

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado 2014

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

por Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz
Publicado 2016