Resultados da pesquisa - Acsadi, Gyula

Alpha-Synuclein Loss in Spinal Muscular Atrophy Por Acsadi, Gyula, Li, Xingli, Murphy, Kelley J., Swoboda, Kathryn J., Parker, Graham C.

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Novel Mutation in Spectrin-like Repeat 1 of Dystrophin Central Domain Causes Protein Misfolding and Mild Becker Muscular Dystrophy Por Acsadi, Gyula, Moore, Steven A., Chéron, Angélique, Delalande, Olivier, Bennett, Lindsey, Kupsky, William, El-Baba, Mohammad, Le Rumeur, Elisabeth, Hubert, Jean-François

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Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease Por Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Eichinger, Kate, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

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Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study Por Acsadi, Gyula, Crawford, Thomas O., Müller‐Felber, Wolfgang, Shieh, Perry B., Richardson, Randal, Natarajan, Niranjana, Castro, Diana, Ramirez‐Schrempp, Daniela, Gambino, Giulia, Sun, Peng, Farwell, Wildon

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Functional Consequences and Structural Interpretation of Mutations of Human Choline Acetyltransferase Por Shen, Xin-Ming, Crawford, Thomas O., Brengman, Joan, Acsadi, Gyula, Iannaconne, Susan, Karaca, Emin, Khoury, Chaouky, Mah, Jean K., Edvardson, Shimon, Bajzer, Zeljko, Rodgers, David, Engel, Andrew G.

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Validation of the CMT Pediatric Scale as an outcome measure of disability Por Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.

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Perspectives on Clinical Trials in Spinal Muscular Atrophy Por Swoboda, Kathryn J., Kissel, John T., Crawford, Thomas O., Bromberg, Mark B., Acsadi, Gyula, D'Anjou, Guy, Krosschell, Kristin J., Reyna, Sandra P., Schroth, Mary K., Scott, Charles B., Simard, Louise R.

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Compound Muscle Action Potential and Motor Function in Children with Spinal Muscular Atrophy Por Lewelt, Aga J., Krosschell, Kristin J., Scott, Charles, Sakonju, Ai, Kissel, John T., Crawford, Thomas O., Acsadi, Gyula, D'Anjou, Guy, Elsheikh, Bakri, Reyna, Sandra P., Schroth, Mary K., Maczulski, Jo Anne, Stoddard, Gregory J., Elovic, Elie, Swoboda, Kathryn J.

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Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) Por Burns, Joshua, Finkel, Richard, Estilow, Tim, Hiscock, Andy, Laura, Matilde, Swingle, Polly, Patzko, Agnes, Glanzman, Allan, Acsadi, Gyula, Muntoni, Francesco, Reilly, Mary, Pareyson, Davide, Moroni, Isabella, Pagliano, Emanuela, Ramchandren, Sindhu, Eichinger, Kate, Ryan, Monique, Ouvrier, Robert, Shy, Michael, Shy, Rosemary

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Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy Por Swoboda, Kathryn J., Scott, Charles B., Reyna, Sandra P., Prior, Thomas W., LaSalle, Bernard, Sorenson, Susan L., Wood, Janine, Acsadi, Gyula, Crawford, Thomas O., Kissel, John T., Krosschell, Kristin J., D'Anjou, Guy, Bromberg, Mark B., Schroth, Mary K., Chan, Gary M., Elsheikh, Bakri, Simard, Louise R.

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SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy Por Kissel, John T., Scott, Charles B., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, Bromberg, Mark B., Chan, Gary M., Swoboda, Kathryn J.

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SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy Por Swoboda, Kathryn J., Scott, Charles B., Crawford, Thomas O., Simard, Louise R., Reyna, Sandra P., Krosschell, Kristin J., Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan L., Maczulski, Jo Anne, Bromberg, Mark B., Chan, Gary M., Kissel, John T.

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SMA VALIANT TRIAL: A PROSPECTIVE, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL OF VALPROIC ACID IN AMBULATORY ADULTS WITH SPINAL MUSCULAR ATROPHY Por Kissel, John T., Elsheikh, Bakri, King, Wendy M., Freimer, Miriam, Scott, Charles B., Kolb, Stephen J., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Schroth, Mary K., D’Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, Swoboda, Kathryn J.

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Medical management of muscle weakness in Duchenne muscular dystrophy Por Rivera, Sarah R., Jhamb, Sumit K., Abdel-Hamid, Hoda Z., Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T., Iannaccone, Susan T., Konersman, Chamindra G., Kuntz, Nancy L., McDonald, Craig M., Parsons, Julie A., Tesi Rocha, Carolina, Zaidman, Craig M., Butterfield, Russell J., Connolly, Anne M., Mathews, Katherine D.

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Development and validation of the Charcot-Marie-Tooth Disease Infant Scale Por Mandarakas, Melissa R, Menezes, Manoj P, Rose, Kristy J, Shy, Rosemary, Eichinger, Kate, Foscan, Maria, Estilow, Timothy, Kennedy, Rachel, Herbert, Karen, Bray, Paula, Refshauge, Kathryn, Ryan, Monique M, Yiu, Eppie M, Farrar, Michelle, Sampaio, Hugo, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Yum, Sabrina W, Herrmann, David N, Acsadi, Gyula, Shy, Michael E, Burns, Joshua, Sanmaneechai, Oranee

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Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale Por Mandarakas, Melissa R, Menezes, Manoj P, Rose, Kristy J, Shy, Rosemary, Eichinger, Kate, Foscan, Maria, Estilow, Timothy, Kennedy, Rachel, Herbert, Karen, Bray, Paula, Refshauge, Kathryn, Ryan, Monique M, Yiu, Eppie M, Farrar, Michelle, Sampaio, Hugo, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Yum, Sabrina W, Herrmann, David N, Acsadi, Gyula, Shy, Michael E, Burns, Joshua, Sanmaneechai, Oranee

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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia Por Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.

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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome Por McDonell, Laura M., Mirzaa, Ghayda M., Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T., Lee, Leo J., Clericuzio, Carol L., Graham, John M., Morris-Rosendahl, Deborah J., Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, Smyser, Christopher D., Paciorkowski, Alex R., Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L., Marcadier, Janet, Geraghty, Michael T., Frey, Brendan J., Majewski, Jacek, Bulman, Dennis E., Dobyns, William B., O’Driscoll, Mark, Boycott, Kym M.

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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study Por Pipis, Menelaos, Feely, Shawna M E, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M

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A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores Por Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.

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