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 em 2013

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 no J Neurol Neurosurg Psychiatry (2016)

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Por 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
Publicado em 2013

Congenital myopathies: Natural history of a large pediatric cohort

Por 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
Publicado no Neurology (2015)

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 no Neurology (2016)

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

Por Carta, Eloisa, Chung, Seo-Kyung, James, Victoria M., Robinson, Angela, Gill, Jennifer L., Remy, Nathalie, Vanbellinghen, Jean-François, Drew, Cheney J. G., Cagdas, Sophie, Cameron, Duncan, Cowan, Frances M., Del Toro, Mireria, Graham, Gail E., Manzur, Adnan Y., Masri, Amira, Rivera, Serge, Scalais, Emmanuel, Shiang, Rita, Sinclair, Kate, Stuart, Catriona A., Tijssen, Marina A. J., Wise, Grahame, Zuberi, Sameer M., Harvey, Kirsten, Pearce, Brian R., Topf, Maya, Thomas, Rhys H., Supplisson, Stéphane, Rees, Mark I., Harvey, Robert J.
Publicado em 2012

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Por Scoto, Mariacristina, Rossor, Alexander M., Harms, Matthew B., Cirak, Sebahattin, Calissano, Mattia, Robb, Stephanie, Manzur, Adnan Y., Martínez Arroyo, Amaia, Rodriguez Sanz, Aida, Mansour, Sahar, Fallon, Penny, Hadjikoumi, Irene, Klein, Andrea, Yang, Michele, De Visser, Marianne, Overweg-Plandsoen, W.C.G. (Truus), Baas, Frank, Taylor, J. Paul, Benatar, Michael, Connolly, Anne M., Al-Lozi, Muhammad T., Nixon, John, de Goede, Christian G.E.L., Foley, A. Reghan, Mcwilliam, Catherine, Pitt, Matthew, Sewry, Caroline, Phadke, Rahul, Hafezparast, Majid, Chong, W.K. “Kling”, Mercuri, Eugenio, Baloh, Robert H., Reilly, Mary M., Muntoni, Francesco
Publicado no Neurology (2015)

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 em 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 no Brain (2016)