Corticosteroids for the treatment of Duchenne muscular dystrophy
Matthews, Emma, Brassington, Ruth, Kuntzer, Thierry, Jichi, Fatima, Manzur, Adnan Y
Published in Cochrane database of systematic reviews (05.05.2016)
Published in Cochrane database of systematic reviews (05.05.2016)
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Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy
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Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy
Muntoni, Francesco, Domingos, Joana, Manzur, Adnan Y, Mayhew, Anna, Guglieri, Michela, Sajeev, Gautam, Signorovitch, James, Ward, Susan J
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Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy
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Published in PloS one (26.04.2023)
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Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
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Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials
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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Congenital myopathies: Natural history of a large pediatric cohort
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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Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations
Bachmann, Christoph, Jungbluth, Heinz, Muntoni, Francesco, Manzur, Adnan Y, Zorzato, Francesco, Treves, Susan
Published in Human molecular genetics (15.01.2017)
Published in Human molecular genetics (15.01.2017)
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Secondary outcomes of scoliosis surgery in disease‐modifying treatment‐naïve patients with spinal muscular atrophy type 2 and nonambulant type 3
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DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials
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
Published in Neurology (11.04.2023)
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Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms
Matthews, Emma, Silwal, Arpana, Sud, Richa, Hanna, Michael G., Manzur, Adnan Y., Muntoni, Francesco, Munot, Pinki
Published in The Journal of pediatrics (01.09.2017)
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Long-term Natural History of Pediatric Dominant and Recessive RYR1 -Related Myopathy
Sarkozy, Anna, Sa, Mario, Ridout, Deborah, Fernandez-Garcia, Miguel Angel, Distefano, Maria Grazia, Main, Marion, Sheehan, Jennie, Manzur, Adnan Y, Munot, Pinki, Robb, Stephanie, Wraige, Elizabeth, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Gowda, Vasantha, Mein, Rachael, Phadke, Rahul, Jungbluth, Heinz, Muntoni, Francesco
Published in Neurology (10.10.2023)
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The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials
Ricotti, Valeria, Ridout, Deborah A, Pane, Marika, Main, Marion, Mayhew, Anna, Mercuri, Eugenio, Manzur, Adnan Y, Muntoni, Francesco
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2016)
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Retrospective natural history of thymidine kinase 2 deficiency
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
Published in Journal of medical genetics (01.08.2018)
Published in Journal of medical genetics (01.08.2018)
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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy
Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2013)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2013)
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
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
Published in Neurology (17.02.2015)
Published in Neurology (17.02.2015)
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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
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
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
Klein, Andrea, Lillis, Suzanne, Munteanu, Iulia, Scoto, Mariacristina, Zhou, Haiyan, Quinlivan, Ros, Straub, Volker, Manzur, Adnan Y., Roper, Helen, Jeannet, Pierre-Yves, Rakowicz, Wojtek, Jones, David Hilton, Jensen, Uffe Birk, Wraige, Elizabeth, Trump, Natalie, Schara, Ulrike, Lochmuller, Hanns, Sarkozy, Anna, Kingston, Helen, Norwood, Fiona, Damian, Maxwell, Kirschner, Janbernd, Longman, Cheryl, Roberts, Mark, Auer-Grumbach, Michaela, Hughes, Imelda, Bushby, Kate, Sewry, Caroline, Robb, Stephanie, Abbs, Stephen, Jungbluth, Heinz, Muntoni, Francesco
Published in Human mutation (01.06.2012)
Published in Human mutation (01.06.2012)
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