Resultados da pesquisa - Johnson, Janel O

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome Por Johnson, Janel O., Gibbs, J. Raphael, Van Maldergem, Lionel, Houlden, Henry, Singleton, Andrew B.

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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy Por Caress, James B., Johnson, Janel O., Abramzon, Yevgeniya A., Hawkins, Gregory A., Gibbs, J. Raphael, Sullivan, Elizabeth A., Chahal, Chamanpreet S., Traynor, Bryan J.

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Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis Por Johnson, Janel O., Glynn, Shannon M., Gibbs, J. Raphael, Nalls, Mike A., Sabatelli, Mario, Restagno, Gabriella, Drory, Vivian E., Chiò, Adriano, Rogaeva, Ekaterina, Traynor, Bryan J.

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Valosin-containing protein mutations in sporadic amyotrophic lateral sclerosis Por Abramzon, Yevgeniya, Johnson, Janel O., Scholz, Sonja W., Taylor, J. Paul, Brunetti, Maura, Calvo, Andrea, Mandrioli, Jessica, Benatar, Michael, Mora, Gabriele, Restagno, Gabriella, Chiò, Adriano, Traynor, Bryan J.

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A 7.5Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome Por Johnson, Janel O, Stevanin, Giovanni, van de Leemput, Joyce, Hernandez, Dena G, Arepalli, Sampath, Forlani, Sylvie, Zonozi, Ryan, Gibbs, J. Raphael, Brice, Alexis, Durr, Alexandra, Singleton, Andrew B

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Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family Por Landouré, Guida, Sullivan, Jeremy M., Johnson, Janel O., Munns, Clare H., Shi, Yijun, Diallo, Oumarou, Gibbs, J. Raphael, Gaudet, Rachelle, Ludlow, Christy L., Fischbeck, Kenneth H., Traynor, Bryan J., Burnett, Barrington G., Sumner, Charlotte J.

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Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases Por Sailer, Anna, Scholz, Sonja W., Gibbs, J. Raphael, Tucci, Arianna, Johnson, Janel O., Wood, Nicholas W., Plagnol, Vincent, Hummerich, Holger, Ding, Jinhui, Hernandez, Dena, Hardy, John, Federoff, Howard J., Traynor, Bryan J., Singleton, Andrew B., Houlden, Henry

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease Por Johnson, Janel O., Gibbs, J. Raphael, Megarbane, Andre, Urtizberea, J. Andoni, Hernandez, Dena G., Foley, A. Reghan, Arepalli, Sampath, Pandraud, Amelie, Simón-Sánchez, Javier, Clayton, Peter, Reilly, Mary M., Muntoni, Francesco, Abramzon, Yevgeniya, Houlden, Henry, Singleton, Andrew B.

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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients Por Traynor, Bryan J., Nalls, Michael, Lai, Shiao-Lin, Gibbs, Raphael J., Schymick, Jennifer C., Arepalli, Sampath, Hernandez, Dena, van der Brug, Marcel P., Johnson, Janel O., Dillman, Allissa, Cookson, Mark, Moglia, Cristina, Calvo, Andrea, Restagno, Gabriella, Mora, Gabriele, Chiò, Adriano

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A candidate gene for autoimmune myasthenia gravis Por Landouré, Guida, Knight, Melanie A., Stanescu, Horia, Taye, Addis A., Shi, Yijun, Diallo, Oumarou, Johnson, Janel O., Hernandez, Dena, Traynor, Bryan J., Biesecker, Leslie G., Elkahloun, Abdel, Rinaldi, Carlo, Vincent, Angela, Willcox, Nick, Kleta, Robert, Fischbeck, Kenneth H., Burnett, Barrington G.

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A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD Por Rollinson, Sara, Bennion Callister, Janis, Young, Kate, Ryan, Sarah J., Druyeh, Ronald, Rohrer, Jonathan D., Snowden, Julie, Richardson, Anna, Jones, Matt, Harris, Jenny, Davidson, Yvonne, Robinson, Andrew, Ealing, John, Johnson, Janel O., Traynor, Bryan, Mead, Simon, Mann, David, Pickering-Brown, Stuart M.

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SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia Por Marelli, Cecilia, van de Leemput, Joyce, Johnson, Janel O, Tison, Francois, Thauvin-Robinet, Christel, Picard, Fabienne, Tranchant, Christine, Hernandez, Dena G, Huttin, Bernard, Boulliat, Jacques, Sangla, Iban, Marescaux, Christian, Brique, Serge, Dollfus, Hélène, Arepalli, Sampath, Benatru, Isabelle, Ollagnon, Elisabeth, Forlani, Sylvie, Hardy, John, Stevanin, Giovanni, Dürr, Alexandra, Singleton, Andrew, Brice, Alexis

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Large proportion of amyotrophic lateral sclerosis cases in Sardinia are due to a single founder mutation of the TARDBP gene Por Chiò, Adriano, Borghero, Giuseppe, Pugliatti, Maura, Ticca, Anna, Calvo, Andrea, Moglia, Cristina, Mutani, Roberto, Brunetti, Maura, Ossola, Irene, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cossu, Paola, Abramzon, Yevgeniya, Johnson, Janel O., Nalls, Michael A., Arepalli, Sampath, Chong, Sean, Hernandez, Dena G., Traynor, Bryan J., Restagno, Gabriella

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Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family Por Zukosky, Kristen, Meilleur, Katherine, Traynor, Bryan J., Dastgir, Jahannaz, Medne, Livija, Devoto, Marcella, Collins, James, Rooney, Jachinta, Zou, Yaqun, Yang, Michele L., Gibbs, J. Raphael, Meier, Markus, Stetefeld, Joerg, Finkel, Richard S., Schessl, Joachim, Elman, Lauren, Felice, Kevin, Ferguson, Toby A., Ceyhan-Birsoy, Ozge, Beggs, Alan H., Tennekoon, Gihan, Johnson, Janel O., Bönnemann, Carsten G.

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Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia Por Rinaldi, Carlo, Schmidt, Thomas, Situ, Alan J., Johnson, Janel O., Lee, Philip R., Chen, Ke-lian, Bott, Laura C., Fadó, Rut, Harmison, George H., Parodi, Sara, Grunseich, Christopher, Renvoisé, Benoît, Biesecker, Leslie G., De Michele, Giuseppe, Santorelli, Filippo M., Filla, Alessandro, Stevanin, Giovanni, Dürr, Alexandra, Brice, Alexis, Casals, Núria, Traynor, Bryan J., Blackstone, Craig, Ulmer, Tobias S., Fischbeck, Kenneth H.

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HFE p.H63D polymorphism does not influence ALS phenotype and survival Por Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, Maria Rosaria, Bella, Vincenzo La, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Penco, Silvana

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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy Por Sullivan, Jeremy M., Motley, William W., Johnson, Janel O., Aisenberg, William H., Marshall, Katherine L., Barwick, Katy E.S., Kong, Lingling, Huh, Jennifer S., Saavedra-Rivera, Pamela C., McEntagart, Meriel M., Marion, Marie-Helene, Hicklin, Lucy A., Modarres, Hamid, Baple, Emma L., Farah, Mohamed H., Zuberi, Aamir R., Lutz, Cathleen M., Gaudet, Rachelle, Traynor, Bryan J., Crosby, Andrew H., Sumner, Charlotte J.

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CHCH10 mutations in an Italian cohort of familial and sporadic ALS patients Por Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Traynor, Bryan J., Johnson, Janel O., Nalls, Mike A., Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O., Nilo, Riva, Battistini, Stefania, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L., Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Penco, Silvana, Lunetta, Christian

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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Por Bott, Laura C, Forouhan, Mitra, Lieto, Maria, Sala, Ambre J, Ellerington, Ruth, Johnson, Janel O, Speciale, Alfina A, Criscuolo, Chiara, Filla, Alessandro, Chitayat, David, Alkhunaizi, Ebba, Shannon, Patrick, Nemeth, Andrea H, Angelucci, Francesco, Lim, Wooi Fang, Striano, Pasquale, Zara, Federico, Helbig, Ingo, Muona, Mikko, Courage, Carolina, Lehesjoki, Anna-Elina, Berkovic, Samuel F, Fischbeck, Kenneth H, Brancati, Francesco, Morimoto, Richard I, Wood, Matthew J A, Rinaldi, Carlo

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Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12 Por Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler M., Ishiura, Hiroyuki, Tsuji, Shoji, Hein, Nichole, Fink, John K., Stoll, Marion, Nicholson, Garth, Gonzalez, Michael, Speziani, Fiorella, Dürr, Alexandra, Stevanin, Giovanni, Biesecker, Leslie G., Accardi, John, Landis, Dennis M. D., Gahl, William A., Traynor, Bryan J., Marques, Wilson, Züchner, Stephan, Blackstone, Craig, Fischbeck, Kenneth H., Burnett, Barrington G.

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