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1. Distribution of hand function by age in individuals with Rett syndrome

Author

Neul, Jeffrey L, Benke, Tim A, Marsh, Eric D, Lane, Jane B, Lieberman, David N, Skinner, Steven A, Glaze, Daniel G, Suter, Bernhard, Heydemann, Peter T, Beisang, Arthur A, Standridge, Shannon M, Ryther, Robin CC, Haas, Richard H, Edwards, Lloyd J, Ananth, Amitha, and Percy, Alan K

Subjects
Allied Health and Rehabilitation Science, Biomedical and Clinical Sciences, Health Sciences, Clinical Research, Rare Diseases, Rett Syndrome, Brain Disorders, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric
Abstract

Abstract: Objective: We aimed to determine the longitudinal distribution of hand function skills in individuals with classic Rett syndrome (RTT), an X‐linked dominant neurodevelopmental disorder, and correlate with MECP2 variants. Method: We conducted a longitudinal study of 946 girls and young women with typical RTT seen between 2006 and 2021 in the US Natural History Study (NHS) featuring a structured clinical evaluation to assess the level of hand function skills. The specific focus of this study was to assess longitudinal variation of hand skills from age 2 through age 18 years in relation to specific MECP2 variant groups. Results: Following the initial regression period, hand function continues to decline across the age spectrum in individuals with RTT. Specific differences are noted with steeper declines in hand function among those with milder variants (Group A: R133C, R294X, R306C, and C‐terminal truncations) compared with groups composed of individuals with more severe variants. Conclusions: These temporal variations in hand use represent specific considerations that could influence the design of clinical trials that test therapies aiming to ameliorate specific functional limitations in individuals with RTT. Furthermore, the distinct impact of specific MECP2 variants on clinical severity, especially related to hand use, should be considered in such interventional trials.

Published
2023

3. A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.

Author

Mitelman, Olga, Abdel-Hamid, Hoda, Byrne, Barry, Connolly, Anne, Heydemann, Peter, Proud, Crystal, Shieh, Perry, Wagner, Kathryn, Dugar, Ashish, Santra, Sourav, Signorovitch, James, Goemans, Nathalie, Mercuri, Eugenio, Mendell, Jerry, and McDonald, Craig

Subjects
6-minute walk test, Duchenne muscular dystrophy, dystrophin, eteplirsen, forced vital capacity, loss of ambulation, Adolescent, Child, Disease Progression, Humans, Male, Mobility Limitation, Morpholinos, Muscular Dystrophy, Duchenne, Outcome Assessment, Health Care, Prospective Studies, Registries, Retrospective Studies, Time Factors, Vital Capacity, Walk Test
Abstract

BACKGROUND: Studies 4658-201/202 (201/202) evaluated treatment effects of eteplirsen over 4 years in patients with Duchenne muscular dystrophy and confirmed exon-51 amenable genetic mutations. Chart review Study 4658-405 (405) further followed these patients while receiving eteplirsen during usual clinical care. OBJECTIVE: To compare long-term clinical outcomes of eteplirsen-treated patients from Studies 201/202/405 with those of external controls. METHODS: Median total follow-up time was approximately 6 years of eteplirsen treatment. Outcomes included loss of ambulation (LOA) and percent-predicted forced vital capacity (FVC%p). Time to LOA was compared between eteplirsen-treated patients and standard of care (SOC) external controls and was measured from eteplirsen initiation in 201/202 or, in the SOC group, from the first study visit. Comparisons were conducted using univariate Kaplan-Meier analyses and log-rank tests, and multivariate Cox proportional hazards models with regression adjustment for baseline characteristics. Annual change in FVC%p was compared between eteplirsen-treated patients and natural history study patients using linear mixed models with repeated measures. RESULTS: Data were included from all 12 patients in Studies 201/202 and the 10 patients with available data from 405. Median age at LOA was 15.16 years. Eteplirsen-treated patients experienced a statistically significant longer median time to LOA by 2.09 years (5.09 vs. 3.00 years, p

Published
2022

7. Building Programs to Eradicate Toxoplasmosis Part I: Introduction and Overview

Author

Felín, Mariangela Soberón, Wang, Kanix, Moreira, Aliya, Grose, Andrew, Leahy, Karen, Zhou, Ying, Clouser, Fatima Alibana, Siddiqui, Maryam, Leong, Nicole, Goodall, Perpetua, Michalowski, Morgan, Ismail, Mahmoud, Christmas, Monica, Schrantz, Stephen, Caballero, Zuleima, Norero, Ximena, Estripeaut, Dora, Ellis, David, Raggi, Catalina, Castro, Catherine, Moossazadeh, Davina, Ramirez, Margarita, Pandey, Abhinav, Ashi, Kevin, Dovgin, Samantha, Dixon, Ashtyn, Li, Xuan, Begeman, Ian, Heichman, Sharon, Lykins, Joseph, Villalobos-Cerrud, Delba, Fabrega, Lorena, Montalvo, José Luis Sanchez, Mendivil, Connie, Quijada, Mario R., Fernández-Pirla, Silvia, de La Guardia, Valli, Wong, Digna, de Guevara, Mayrene Ladrón, Flores, Carlos, Borace, Jovanna, García, Anabel, Caballero, Natividad, Rengifo-Herrera, Claudia, de Saez, Maria Theresa Moreno, Politis, Michael, Wroblewski, Kristen, Karrison, Theodore, Ross, Stephanie, Dogra, Mimansa, Dhamsania, Vishan, Graves, Nicholas, Kirchberg, Marci, Mathur, Kopal, Aue, Ashley, Restrepo, Carlos M., Llanes, Alejandro, Guzman, German, Rebellon, Arturo, Boyer, Kenneth, Heydemann, Peter, Noble, A. Gwendolyn, Swisher, Charles, Rabiah, Peter, Withers, Shawn, Hull, Teri, Su, Chunlei, Blair, Michael, Latkany, Paul, Mui, Ernest, Vasconcelos-Santos, Daniel Vitor, Villareal, Alcibiades, Perez, Ambar, Galvis, Carlos Andrés Naranjo, Montes, Mónica Vargas, Perez, Nestor Ivan Cardona, Ramirez, Morgan, Chittenden, Cy, Wang, Edward, Garcia-López, Laura Lorena, Muñoz-Ortiz, Juliana, Rivera-Valdivia, Nicolás, Bohorquez-Granados, María Cristina, de-la-Torre, Gabriela Castaño, Padrieu, Guillermo, Hernandez, Juan David Valencia, Celis-Giraldo, Daniel, Dávila, Juan Alejandro Acosta, Torres, Elizabeth, Oquendo, Manuela Mejia, Arteaga-Rivera, José Y., Nicolae, Dan L., Rzhetsky, Andrey, Roizen, Nancy, Stillwaggon, Eileen, Sawers, Larry, Peyron, Francois, Wallon, Martine, Chapey, Emanuelle, Levigne, Pauline, Charter, Carmen, De Frias, Migdalia, Montoya, Jose, Press, Cindy, Ramirez, Raymund, Contopoulos-Ioannidis, Despina, Maldonado, Yvonne, Liesenfeld, Oliver, Gomez, Carlos, Wheeler, Kelsey, Holfels, Ellen, Frim, David, McLone, David, Penn, Richard, Cohen, William, Zehar, Samantha, McAuley, James, Limonne, Denis, Houze, Sandrine, Abraham, Sylvie, Piarroux, Raphael, Tesic, Vera, Beavis, Kathleen, Abeleda, Ana, Sautter, Mari, El Mansouri, Bouchra, El Bachir, Adlaoui, Amarir, Fatima, El Bissati, Kamal, de-la-Torre, Alejandra, Britton, Gabrielle, Motta, Jorge, Ortega-Barria, Eduardo, Romero, Isabel Luz, Meier, Paul, Grigg, Michael, Gómez-Marín, Jorge, Kosagisharaf, Jagannatha Rao, Llorens, Xavier Sáez, Reyes, Osvaldo, and McLeod, Rima

Published
2022
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8. Building Programs to Eradicate Toxoplasmosis Part IV: Understanding and Development of Public Health Strategies and Advances “Take a Village”

Author

Felín, Mariangela Soberón, Wang, Kanix, Moreira, Aliya, Grose, Andrew, Leahy, Karen, Zhou, Ying, Clouser, Fatima Alibana, Siddiqui, Maryam, Leong, Nicole, Goodall, Perpetua, Michalowski, Morgan, Ismail, Mahmoud, Christmas, Monica, Schrantz, Stephen, Caballero, Zuleima, Norero, Ximena, Estripeaut, Dora, Ellis, David, Raggi, Catalina, Castro, Catherine, Moossazadeh, Davina, Ramirez, Margarita, Pandey, Abhinav, Ashi, Kevin, Dovgin, Samantha, Dixon, Ashtyn, Li, Xuan, Begeman, Ian, Heichman, Sharon, Lykins, Joseph, Villalobos-Cerrud, Delba, Fabrega, Lorena, Montalvo, José Luis Sanchez, Mendivil, Connie, Quijada, Mario R., Fernández-Pirla, Silvia, de La Guardia, Valli, Wong, Digna, de Guevara, Mayrene Ladrón, Flores, Carlos, Borace, Jovanna, García, Anabel, Caballero, Natividad, Rengifo-Herrera, Claudia, de Saez, Maria Theresa Moreno, Politis, Michael, Ross, Stephanie, Dogra, Mimansa, Dhamsania, Vishan, Graves, Nicholas, Kirchberg, Marci, Mathur, Kopal, Aue, Ashley, Restrepo, Carlos M., Llanes, Alejandro, Guzman, German, Rebellon, Arturo, Boyer, Kenneth, Heydemann, Peter, Noble, A. Gwendolyn, Swisher, Charles, Rabiah, Peter, Withers, Shawn, Hull, Teri, Frim, David, McLone, David, Su, Chunlei, Blair, Michael, Latkany, Paul, Mui, Ernest, Vasconcelos-Santos, Daniel Vitor, Villareal, Alcibiades, Perez, Ambar, Galvis, Carlos Andrés Naranjo, Montes, Mónica Vargas, Perez, Nestor Ivan Cardona, Ramirez, Morgan, Chittenden, Cy, Wang, Edward, Garcia-López, Laura Lorena, Padrieu, Guillermo, Muñoz-Ortiz, Juliana, Rivera-Valdivia, Nicolás, Bohorquez-Granados, María Cristina, de-la-Torre, Gabriela Castaño, Hernandez, Juan David Valencia, Celis-Giraldo, Daniel, Dávila, Juan Alejandro Acosta, Torres, Elizabeth, Oquendo, Manuela Mejia, Arteaga-Rivera, José Y., Nicolae, Dan L, Rzhetsky, Andrey, Roizen, Nancy, Stillwaggon, Eileen, Sawers, Larry, Peyron, Francois, Wallon, Martine, Chapey, Emanuelle, Levigne, Pauline, Charter, Carmen, De Frias, Migdalia, Montoya, Jose, Press, Cindy, Ramirez, Raymund, Contopoulos-Ioannidis, Despina, Maldonado, Yvonne, Liesenfeld, Oliver, Gomez, Carlos, Wheeler, Kelsey, Zehar, Samantha, McAuley, James, Limonne, Denis, Houze, Sandrine, Abraham, Sylvie, Piarroux, Raphael, Tesic, Vera, Beavis, Kathleen, Abeleda, Ana, Sautter, Mari, El Mansouri, Bouchra, El Bachir, Adlaoui, Amarir, Fatima, El Bissati, Kamal, Holfels, Ellen, Frim, David, McLone, David, Penn, Richard, Cohen, William, de-la-Torre, Alejandra, Britton, Gabrielle, Motta, Jorge, Ortega-Barria, Eduardo, Romero, Isabel Luz, Meier, Paul, Grigg, Michael, Gómez-Marín, Jorge, Kosagisharaf, Jagannatha Rao, Llorens, Xavier Sáez, Reyes, Osvaldo, and McLeod, Rima

Published
2022
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9. Building Programs to Eradicate Toxoplasmosis Part II: Education

Author

Felín, Mariangela Soberón, Wang, Kanix, Moreira, Aliya, Grose, Andrew, Leahy, Karen, Zhou, Ying, Clouser, Fatima Alibana, Siddiqui, Maryam, Leong, Nicole, Goodall, Perpetua, Michalowski, Morgan, Ismail, Mahmoud, Christmas, Monica, Schrantz, Stephen, Caballero, Zuleima, Norero, Ximena, Estripeaut, Dora, Ellis, David, Raggi, Catalina, Castro, Catherine, Rengifo-Herrera, Claudia, Moossazadeh, Davina, Ramirez, Margarita, Pandey, Abhinav, Ashi, Kevin, Dovgin, Samantha, Dixon, Ashtyn, Li, Xuan, Begeman, Ian, Heichman, Sharon, Lykins, Joseph, Villalobos-Cerrud, Delba, Fabrega, Lorena, Montalvo, José Luis Sanchez, Mendivil, Connie, Quijada, Mario R., Fernández-Pirla, Silvia, de La Guardia, Valli, Wong, Digna, de Guevara, Mayrene Ladrón, Flores, Carlos, Borace, Jovanna, García, Anabel, Caballero, Natividad, de Saez, Maria Theresa Moreno, Politis, Michael, Ross, Stephanie, Dogra, Mimansa, Dhamsania, Vishan, Graves, Nicholas, Kirchberg, Marci, Mathur, Kopal, Aue, Ashley, Restrepo, Carlos M., Llanes, Alejandro, Guzman, German, Rebellon, Arturo, Boyer, Kenneth, Heydemann, Peter, Noble, A. Gwendolyn, Swisher, Charles, Rabiah, Peter, Withers, Shawn, Hull, Teri, Frim, David, McLone, David, Su, Chunlei, Blair, Michael, Latkany, Paul, Mui, Ernest, Vasconcelos-Santos, Daniel Vitor, Villareal, Alcibiades, Perez, Ambar, Galvis, Carlos Andrés Naranjo, Montes, Mónica Vargas, Perez, Nestor Ivan Cardona, Ramirez, Morgan, Chittenden, Cy, Wang, Edward, Garcia-López, Laura Lorena, Muñoz-Ortiz, Juliana, Rivera-Valdivia, Nicolás, Bohorquez-Granados, María Cristina, de-la-Torre, Gabriela Castaño, Padrieu, Guillermo, Hernandez, Juan David Valencia, Celis-Giraldo, Daniel, Dávila, John Alejandro Acosta, Torres, Elizabeth, Oquendo, Manuela Mejia, Arteaga-Rivera, José Y., Nicolae, Dan L., Rzhetsky, Andrey, Roizen, Nancy, Stillwaggon, Eileen, Sawers, Larry, Peyron, Francois, Wallon, Martine, Chapey, Emanuelle, Levigne, Pauline, Charter, Carmen, De Frias, Migdalia, Montoya, Jose, Press, Cindy, Ramirez, Raymund, Contopoulos-Ioannidis, Despina, Maldonado, Yvonne, Liesenfeld, Oliver, Gomez, Carlos, Wheeler, Kelsey, Zehar, Samantha, McAuley, James, Limonne, Denis, Houze, Sandrine, Abraham, Sylvie, Piarroux, Raphael, Tesic, Vera, Beavis, Kathleen, Abeleda, Ana, Sautter, Mari, El Mansouri, Bouchra, El Bachir, Adlaoui, Amarir, Fatima, El Bissati, Kamal, Holfels, Ellen, Penn, Richard, Cohen, William, de-la-Torre, Alejandra, Britton, Gabrielle, Motta, Jorge, Ortega-Barria, Eduardo, Romero, Isabel Luz, Meier, Paul, Grigg, Michael, Gómez-Marín, Jorge, Kosagisharaf, Jagannatha Rao, Llorens, Xavier Sáez, Reyes, Osvaldo, and McLeod, Rima

Published
2022
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10. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Belousova, Elena, Belyaev, Oleg, Ben-Zeev, Bruria, Brunklaus, Andreas, Ciliberto, Michael A., Darra, Francesca, Davis, Ronald, De Giorgis, Valentina, Doronina, Olga, Fahey, Michael, Guerrini, Renzo, Heydemann, Peter, Khaletskaya, Olga, Lisewski, Pawel, Marsh, Eric D., Moosa, Ahsan N., Perry, Scott, Philip, Sunny, Rajaraman, Rajsekar R., Renfroe, Ben, Saneto, Russell P., Scheffer, Ingrid E., Sogawa, Yoshimi, Suter, Bernhardt, Sweney, Matthew T., Tarquinio, Daniel, Veggiotti, Pierangelo, Wallace, Geoff, Weisenberg, Judy, Wilfong, Angus, Wirrell, Elaine C., Zafar, Muhammad, Zolnowska, Marta, Knight, Elia M Pestana, Amin, Sam, Bahi-Buisson, Nadia, Benke, Tim A, Cross, J Helen, Demarest, Scott T, Olson, Heather E, Specchio, Nicola, Fleming, Thomas R, Aimetti, Alex A, Gasior, Maciej, and Devinsky, Orrin

Published
2022
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12. A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

Author

Raspa, Melissa, Bann, Carla M., Gwaltney, Angela, Benke, Timothy A., Fu, Cary, Glaze, Daniel G., Haas, Richard, Heydemann, Peter, Jones, Mary, Kaufmann, Walter E., Lieberman, David, Marsh, Eric, Peters, Sarika, Ryther, Robin, Standridge, Shannon, Skinner, Steven A., Percy, Alan K., and Neul, Jeffrey L.

Abstract

Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data from a natural history study (n = 1,075), we examined the factor structure, internal consistency, and validity of the clinician-reported Motor Behavior Assessment scale (MBA). The analysis resulted in a five-factor model: (1) motor dysfunction, (2) functional skills, (3) social skills, (4) aberrant behavior, and (5) respiratory behaviors. Item Response Theory (IRT) analyses demonstrated that all items had acceptable discrimination. The revised MBA subscales showed a positive relationship with parent reported items, age, and a commonly used measure of clinical severity in RTT, and mutation type. Further work is needed to evaluate this measure longitudinally and to add items related to the RTT phenotype.

Published
2020
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13. Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study

Author

Buchanan, Caroline B., Stallworth, Jennifer L., Joy, Aubin E., Dixon, Rebekah E., Scott, Alexandra E., Beisang, Arthur A., Benke, Timothy A., Glaze, Daniel G., Haas, Richard H., Heydemann, Peter T., Jones, Mary D., Lane, Jane B., Lieberman, David N., Marsh, Eric D., Neul, Jeffrey L., Peters, Sarika U., Ryther, Robin C., Skinner, Steve A., Standridge, Shannon M., Kaufmann, Walter E., and Percy, Alan K.

Published
2022
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14. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Author

Peng, Yanyan, Shinde, Deepali N, Valencia, C Alexander, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng, Brockhage, Rachel, Basinger, Alice, Alvarez-Leon, Brenda, Heydemann, Peter, Magoulas, Pilar L, Lewis, Andrea M, Scaglia, Fernando, Gril, Solange, Chong, Shuk Ching, Bower, Matthew, Monaghan, Kristin G, Willaert, Rebecca, Plona, Maria-Renee, Dineen, Rich, Milan, Francisca, Hoganson, George, Powis, Zoe, Helbig, Katherine L, Keller-Ramey, Jennifer, Harris, Belinda, Anderson, Laura C, Green, Torrian, Rizzo, Stacey J Sukoff, Kaylor, Julie, Chen, Jiani, Guan, Min-Xin, Sellars, Elizabeth, Sparagana, Steven P, Gibson, James B, Reinholdt, Laura G, Tang, Sha, and Huang, Taosheng

Subjects
Neurosciences, Eye Disease and Disorders of Vision, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Alleles, Animals, Child, Child, Preschool, Electron Transport, Female, Ferredoxins, Humans, Infant, Iron, Iron-Sulfur Proteins, Male, Mice, Mitochondria, Mitochondrial Membranes, Mutagenesis, Mutation, Optic Atrophy, Oxidoreductases, Pedigree, Sulfite Reductase (Ferredoxin), Exome Sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Iron-sulfur (Fe-S) clusters are ubiquitous cofactors essential to various cellular processes, including mitochondrial respiration, DNA repair, and iron homeostasis. A steadily increasing number of disorders are being associated with disrupted biogenesis of Fe-S clusters. Here, we conducted whole-exome sequencing of patients with optic atrophy and other neurological signs of mitochondriopathy and identified 17 individuals from 13 unrelated families with recessive mutations in FDXR, encoding the mitochondrial membrane-associated flavoprotein ferrodoxin reductase required for electron transport from NADPH to cytochrome P450. In vitro enzymatic assays in patient fibroblast cells showed deficient ferredoxin NADP reductase activity and mitochondrial dysfunction evidenced by low oxygen consumption rates (OCRs), complex activities, ATP production and increased reactive oxygen species (ROS). Such defects were rescued by overexpression of wild-type FDXR. Moreover, we found that mice carrying a spontaneous mutation allelic to the most common mutation found in patients displayed progressive gait abnormalities and vision loss, in addition to biochemical defects consistent with the major clinical features of the disease. Taken together, these data provide the first demonstration that germline, hypomorphic mutations in FDXR cause a novel mitochondriopathy and optic atrophy in humans.

Published
2017

15. Clinical Features and Disease Progression in Older Individuals with Rett Syndrome.

Author

Neul, Jeffrey L., Benke, Timothy A., Marsh, Eric D., Suter, Bernhard, Fu, Cary, Ryther, Robin C., Skinner, Steven A., Lieberman, David N., Feyma, Timothy, Beisang, Arthur, Heydemann, Peter, Peters, Sarika U., Ananth, Amitha, and Percy, Alan K.

Subjects
OLDER people, RETT syndrome, OLD age, DISEASE progression, GENETIC variation
Abstract

Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic variants in MECP2 associated with milder severity, and that clinical features would not be static in older individuals. To address these hypotheses, we compared the distribution of MECP2 variants and clinical severity between younger individuals with Classic RTT (under 30 years old) and older individuals (over 30 years old). Contrary to expectation, enrichment of a severe MECP2 variant (R106W) was observed in the older cohort. Overall severity was not different between the cohorts, but specific clinical features varied between the cohorts. Overall severity from first to last visit increased in the younger cohort but not in the older cohort. While some specific clinical features in the older cohort were stable from the first to the last visit, others showed improvement or worsening. These data do not support the hypothesis that mild MECP2 variants or less overall severity leads to increased longevity in RTT but demonstrate that clinical features change with increasing age in adults with RTT. Additional work is needed to understand disease progression in adults with RTT. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Distribution of hand function by age in individuals with Rett syndrome

Author

Neul, Jeffrey L., primary, Benke, Tim A., additional, Marsh, Eric D., additional, Lane, Jane B., additional, Lieberman, David N., additional, Skinner, Steven A., additional, Glaze, Daniel G., additional, Suter, Bernhard, additional, Heydemann, Peter T., additional, Beisang, Arthur A., additional, Standridge, Shannon M., additional, Ryther, Robin C. C., additional, Haas, Richard H., additional, Edwards, Lloyd J., additional, Ananth, Amitha, additional, and Percy, Alan K., additional

Published
2023
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18. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

Alfano, Lindsay N, Eagle, Michelle, James, Meredith K, Lowes, Linda, Mayhew, Anna, Mazzone, Elena S, Nelson, Leslie, Rose, Kristy J, Abdel-Hamid, Hoda Z, Apkon, Susan D, Barohn, Richard J, Bertini, Enrico, Bloetzer, Clemens, de Vaud, Lausanne Canton, Butterfield, Russell J, Chabrol, Brigitte, Chae, Jong-Hee, Jongno-gu, Daehak-ro, Comi, Giacomi Pietro, Darras, Basil T, Dastgir, Jahannaz, Desguerre, Isabelle, Escobar, Raul G, Finanger, Erika, Guglieri, Michela, Hughes, Imelda, Iannaccone, Susan T, Jones, Kristi J, Karachunski, Peter, Kudr, Martin, Lotze, Timothy, Mah, Jean K, Mathews, Katherine, Nevo, Yoram, Parsons, Julie, Péréon, Yann, de Queiroz Campos Araujo, Alexandra Prufer, Renfroe, J Ben, de Resende, Maria Bernadete Dutra, Ryan, Monique, Selby, Kathryn, Tennekoon, Gihan, Vita, Giuseppe, McDonald, Craig M, Campbell, Craig, Torricelli, Ricardo Erazo, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Heydemann, Peter, Kaminska, Anna, Kirschner, Janbernd, Muntoni, Francesco, Osorio, Andrés Nascimento, Schara, Ulrike, Sejersen, Thomas, Shieh, Perry B, Sweeney, H Lee, Topaloglu, Haluk, Tulinius, Már, Vilchez, Juan J, Voit, Thomas, Wong, Brenda, Elfring, Gary, Kroger, Hans, Luo, Xiaohui, McIntosh, Joseph, Ong, Tuyen, Riebling, Peter, Souza, Marcio, Spiegel, Robert J, Peltz, Stuart W, and Mercuri, Eugenio

Published
2017
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19. Publisher Correction: Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer

Author

Ngô, Huân M., Zhou, Ying, Lorenzi, Hernan, Wang, Kai, Kim, Taek-Kyun, Zhou, Yong, El Bissati, Kamal, Mui, Ernest, Fraczek, Laura, Rajagopala, Seesandra V., Roberts, Craig W., Henriquez, Fiona L., Montpetit, Alexandre, Blackwell, Jenefer M., Jamieson, Sarra E., Wheeler, Kelsey, Begeman, Ian J., Naranjo-Galvis, Carlos, Alliey-Rodriguez, Ney, Davis, Roderick G., Soroceanu, Liliana, Cobbs, Charles, Steindler, Dennis A., Boyer, Kenneth, Noble, A. Gwendolyn, Swisher, Charles N., Heydemann, Peter T., Rabiah, Peter, Withers, Shawn, Soteropoulos, Patricia, Hood, Leroy, and McLeod, Rima

Published
2019
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20. Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin

Author

Gorokhova, Svetlana, primary, Schessl, Joachim, additional, Zou, Yaqun, additional, Yang, Michele L., additional, Heydemann, Peter T., additional, Sufit, Robert L., additional, Meilleur, Katherine, additional, Donkervoort, Sandra, additional, Medne, Livija, additional, Finkel, Richard S., additional, and Bönnemann, Carsten G., additional

Published
2023
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22. Clustering of Toxoplasma gondii Infections Within Families of Congenitally Infected Infants

Author

Contopoulos-Ioannidis, Despina, Wheeler, Kelsey M., Ramirez, Raymund, Press, Cindy, Mui, Ernest, Zhou, Ying, Van Tubbergen, Christine, Prasad, Sheela, Maldonado, Yvonne, Withers, Shawn, Boyer, Kenneth M., Noble, A. Gwendolyn, Rabiah, Peter, Swisher, Charles N., Heydemann, Peter, Wroblewski, Kristen, Karrison, Theodore, Grigg, Michael E., Montoya, Jose G., and McLeod, Rima

Published
2015
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23. P105: QTc Prolongation in Rett syndrome: Correlation with genotype

Author

Angelidis, Evdokia, primary, Beisang, Arthur, additional, Benke, Timothy, additional, Glaze, Daniel, additional, Haas, Richard, additional, Heydemann, Peter, additional, Jones, Mary, additional, Lane, Jane, additional, Lieberman, David, additional, Marsh, Eric, additional, Neul, Jeffrey, additional, Peters, Sarika, additional, Ryther, Robin, additional, Skinner, Steven, additional, Standridge, Shannon, additional, Kaufmann, Walter, additional, Percy, Alan, additional, and Buchanan, Caroline, additional

Published
2023
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24. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.

Author

Neul, Jeffrey L., Benke, Timothy A., Marsh, Eric D., Suter, Bernhard, Silveira, Lori, Fu, Cary, Peters, Sarika U., Percy, Alan K., Skinner, Steven A., Heydemann, Peter T., Ryther, Robin C., Haas, Richard H., Lieberman, David N., Beisang, Art A., Feyma, Timothy, and Standridge, Shannon M.

Subjects
CAREGIVERS, RETT syndrome, NATURAL history, CLINICAL trials, COMMUNICATIVE disorders
Abstract

Objective: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders. Methods: Caregivers of participants enrolled in the US Natural History Study of RTT and RTT-related disorders (n = 925) were asked to identify the top 3 concerning problems impacting the affected participant. We generated a weighted list of top caregiver concerns for each of the diagnostic categories and compared results between the disorders. Further, for classic RTT, caregiver concerns were analyzed by age, clinical severity, and common RTT-causing mutations in MECP2. Results: The top caregiver concerns for classic RTT were effective communication, seizures, walking/balance issues, lack of hand use, and constipation. The frequency of the top caregiver concerns for classic RTT varied by age, clinical severity, and specific mutations, consistent with known variation in the frequency of clinical features across these domains. Caregivers of participants with increased seizure severity often ranked seizures as the first concern, whereas caregivers of participants without active seizures often ranked hand use or communication as the top concern. Comparison across disorders found commonalities in the top caregiver concerns between classic RTT, atypical RTT, MECP2 duplication syndrome, CDKL5 deficiency disorder, and FOXG1 syndrome; however, distinct differences in caregiver concerns between these disorders are consistent with the relative prevalence and impact of specific clinical features. Conclusion: The top caregiver concerns for individuals with RTT and RTT-related disorders reflect the impact of the primary clinical symptoms of these disorders. This work is critical in the development of meaningful therapies, as optimal therapy should address these concerns. Further, outcome measures to be utilized in clinical trials should assess these clinical issues identified as most concerning by caregivers. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer

Author

Ngô, Huân M., Zhou, Ying, Lorenzi, Hernan, Wang, Kai, Kim, Taek-Kyun, Zhou, Yong, El Bissati, Kamal, Mui, Ernest, Fraczek, Laura, Rajagopala, Seesandra V., Roberts, Craig W., Henriquez, Fiona L., Montpetit, Alexandre, Blackwell, Jenefer M., Jamieson, Sarra E., Wheeler, Kelsey, Begeman, Ian J., Naranjo-Galvis, Carlos, Alliey-Rodriguez, Ney, Davis, Roderick G., Soroceanu, Liliana, Cobbs, Charles, Steindler, Dennis A., Boyer, Kenneth, Noble, A. Gwendolyn, Swisher, Charles N., Heydemann, Peter T., Rabiah, Peter, Withers, Shawn, Soteropoulos, Patricia, Hood, Leroy, and McLeod, Rima

Published
2017
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29. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Knight, Elia M Pestana, primary, Amin, Sam, additional, Bahi-Buisson, Nadia, additional, Benke, Tim A, additional, Cross, J Helen, additional, Demarest, Scott T, additional, Olson, Heather E, additional, Specchio, Nicola, additional, Fleming, Thomas R, additional, Aimetti, Alex A, additional, Gasior, Maciej, additional, Devinsky, Orrin, additional, Belousova, Elena, additional, Belyaev, Oleg, additional, Ben-Zeev, Bruria, additional, Brunklaus, Andreas, additional, Ciliberto, Michael A., additional, Darra, Francesca, additional, Davis, Ronald, additional, De Giorgis, Valentina, additional, Doronina, Olga, additional, Fahey, Michael, additional, Guerrini, Renzo, additional, Heydemann, Peter, additional, Khaletskaya, Olga, additional, Lisewski, Pawel, additional, Marsh, Eric D., additional, Moosa, Ahsan N., additional, Perry, Scott, additional, Philip, Sunny, additional, Rajaraman, Rajsekar R., additional, Renfroe, Ben, additional, Saneto, Russell P., additional, Scheffer, Ingrid E., additional, Sogawa, Yoshimi, additional, Suter, Bernhardt, additional, Sweney, Matthew T., additional, Tarquinio, Daniel, additional, Veggiotti, Pierangelo, additional, Wallace, Geoff, additional, Weisenberg, Judy, additional, Wilfong, Angus, additional, Wirrell, Elaine C., additional, Zafar, Muhammad, additional, and Zolnowska, Marta, additional

Published
2022
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30. Analysis of X‐inactivation status in a Rett syndrome natural history study cohort

Author

Fang, Xiaolan, primary, Butler, Kameryn M., additional, Abidi, Fatima, additional, Gass, Jennifer, additional, Beisang, Arthur, additional, Feyma, Timothy, additional, Ryther, Robin C., additional, Standridge, Shannon, additional, Heydemann, Peter, additional, Jones, Mary, additional, Haas, Richard, additional, Lieberman, David N, additional, Marsh, Eric D., additional, Benke, Tim A., additional, Skinner, Steve, additional, Neul, Jeffrey L., additional, Percy, Alan K., additional, Friez, Michael J., additional, and Caylor, Raymond C., additional

Published
2022
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31. Management of Congenital Toxoplasmosis

Author

McLeod, Rima, Lykins, Joseph, Gwendolyn Noble, A., Rabiah, Peter, Swisher, Charles N., Heydemann, Peter T., McLone, David, Frim, David, Withers, Shawn, Clouser, Fatima, and Boyer, Kenneth

Published
2014
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33. Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Author

Shieh, Perry B, primary, Elfring, Gary, additional, Trifillis, Panayiota, additional, Santos, Claudio, additional, Peltz, Stuart W, additional, Parsons, Julie A, additional, Apkon, Susan, additional, Darras, Basil T, additional, Campbell, Craig, additional, McDonald, Craig M, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bushby, Kate, additional, Chabrol, Brigitte, additional, Ciafaloni, Emma, additional, Columer, Jaume, additional, Comi, Giacomi Pietro, additional, Connolly, Anne, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Guglieri, Michela, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Kaufmann, Petra, additional, Kirschner, Janbernd, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Mercuri, Eugenio, additional, Muntoni, Francesco, additional, Nevo, Yoram, additional, Osorio, Andrés Nascimento, additional, Péréon, Yann, additional, Quinlivan, Rosaline, additional, Renfroe, J. Ben, additional, Russman, Barry, additional, Ryan, Monique, additional, Sampson, Jacinda, additional, Schara, Ulrike, additional, Selby, Kathryn, additional, Sejersen, Thomas, additional, Sproule, Douglas M, additional, Sweeney, H. Lee, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Vita, Giuseppe, additional, Voit, Thomas, additional, Burns-Wechsler, Stephanie, additional, Wong, Brenda, additional, Abresch, Ted, additional, Henricson, Erik K, additional, Coleman, Kim, additional, Eagle, Michelle, additional, Florence, Julaine, additional, Gappmaier, Ed, additional, McDonald, Craig, additional, Abdel-Hamid, Hoda Z, additional, Bloetzer, Clemens, additional, Butterfield, Russell J, additional, Chae, Jong-Hee, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Heydemann, Peter, additional, Hughes, Imelda, additional, Kaminska, Anna, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Dutra de Resende, Maria Bernadete, additional, Tennekoon, Gihan, additional, Topaloglu, Haluk, additional, Torricelli, Ricardo Erazo, additional, Alfano, Lindsay N, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, and Rose, Kristy J, additional

Published
2021
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34. Outcome of treatment for congenital toxoplasmosis, 1981-2004: the national collaborative Chicago-based, congenital toxoplasmosis study

Author

McLeod, Rima, Boyer, Kenneth, Karrison, Theodore, Kasza, Kristen, Swisher, Charles, Roizen, Nancy, Jalbrzikowski, Jessica, Remington, Jack, Heydemann, Peter, Noble, A. Gwendolyn, Mets, Marilyn, Holfels, Ellen, Withers, Shawn, Latkany, Paul, and Meier, Paul

Subjects
Toxoplasmosis -- Care and treatment, Toxoplasmosis -- Patient outcomes, Toxoplasmosis -- Research, Health, Health care industry
Published
2006

35. Analysis of X-inactivation status in a Rett syndrome natural history study cohort

Author

Fang, Xiaolan, primary, Butler, Kameryn, additional, Abidi, Fatima, additional, Gass, Jennifer M., additional, Beisang, Arthur, additional, Feyma, Timothy, additional, Ryther, Robin, additional, Standridge, Shannon, additional, Heydemann, Peter, additional, Jones, Mary, additional, Haas, Richard, additional, Lieberman, David, additional, Marsh, Eric, additional, Benke, Timothy, additional, Skinner, Steven, additional, Neul, Jeffrey, additional, Percy, Alan, additional, Friez, Michael, additional, and Caylor, Raymond, additional

Published
2021
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36. Neurologic and developmental outcome in treated congenital toxoplasmosis

Author

Roizen, Nancy, Swisher, Charles N., Stein, Mark A., Hopkins, Joyce, Boyer, Kenneth M., Holfels, Ellen, Mets, Marilyn B., Stein, Laszlo, Patel, Dushyant, Meier, Paul, Withers, Shawn, Remington, Jack, Mack, Douglas, Heydemann, Peter T., Patton, Diane, and McLeod, Rima

Subjects
Toxoplasmosis -- Physiological aspects, Children -- Diseases
Abstract

Six months to one-year of treatment appears to be effective in preventing serious complications in children with congenital toxoplasmosis. Toxoplasmosis is an infection that can cause mental retardation, blindness and neurological disability if transmitted by a pregnant woman to her fetus. Thirty-six children born with toxoplasmosis and treated for at least six months were evaluated near the time of their birth and again at 1, 3.5, 5 and 7 or more years of age. Thirty-two of the children were treated for one year. Forty-five percent of the children had normal neurologic examinations. Of these, 33% had abnormal findings during their first year. Sixty-seven percent had normal IQ scores. No children had hearing difficulties. Nine of the children were microcephalic and seven of these had neurologic impairment. Hydrocephalic children who received prompt treatment had few neurological difficulties. Fifty-eight percent of the children had visual impairment that interfered with their functioning. However it was not associated with abnormal development., Background. Earlier studies have shown that infants with untreated congenital toxoplasmosis and generalized or neurologic abnormalities at presentation almost uniformly develop mental retardation, seizures, and spasticity. Children with untreated subclinical disease at birth have developed seizures, significant cognitive and motor deficits, and diminution in cognitive function over time. Objective. To determine neurologic, cognitive, and motor outcomes for children with congenital toxoplasmosis who were treated for approximately 1 year with pyrimethamine and sulfadiazine. Design and methods. Systematic, prospective, and longitudinal neurologic, cognitive, and motor evaluations were performed for 36 individuals with congenital toxoplasmosis. These infants were born between December 1981 and january 1991 and were treated with pyrimethamine and sulfadiazine for approximately 1 year beginning in the first months of life. Compliance with medications was documented. These individuals were evaluated in a standardized manner in a single center in the first months of life and at approximately 1, 3.5, 5, 7.5, and 10 years of age. Their cognitive function was compared with the cognitive function of a nearest-age, samesex sibling when such siblings older than 3.5 years were available for study. Results. Signs of active central nervous system infection (eg, cerebrospinal fluid [CSF] pleiocytosis, hypoglycoffhachia, elevated CSF protein, and, in some instances, seizures and motor abnormalities) resolved during therapy. Six of the 36 children had perinatal seizures. Four had their anticonvulsant therapy discontinued successfully within the first months of life, and two additional children developed new seizures at 3 and 5 years of age. Tone and motor abnormalities resolved by 1 year of age in 12 of 20 infants who exhibited abnormalities of tone and motor function at their initial neonatal evaluation. By February 1992, 29 of the 36 children had been evaluated when they were 1 year old, and 23 (79%) had a mean [+ or -] standard deviation Mental Developmental Index (MDI) of 102 [+ or -] 22 (range, 59 to 140). Six (21%) had a measure of their cognitive function that was less than 50. Results of sequential IQ tests, performed at 1.5 year intervals or greater, did not differ significantly over time (P > .05). Seven children with MDIS greater than 50 were compared with sibling controls; they had scores of 87 [+ or -] 11 (range, 68 to 97) and their siblings had scores of 112 [+ or -] 15 (range, 85 to 132) (P = .008). Seventeen of 18 children without hydrocephalus and six of eight children with obstructive hydrocephalus responsive to shunting had normal or near-norinal neurologic and developmental outcomes. Children with hydrocephalus ex vacuo present at birth, with high CSF protein, and with lack of response to shunting have done less well. Conclusions. Neurologic and developmental outcomes were significantly better for most of these treated children than outcomes reported for untreated children or those treated for only 1 month (P

Published
1995

38. Outcomes of hydrocephalus secondary to congenital toxoplasmosis

Author

McLone, David, primary, Frim, David, additional, Penn, Richard, additional, Swisher, Charles N., additional, Heydemann, Peter, additional, Boyer, Kenneth M., additional, Noble, A. Gwendolyn, additional, Rabiah, Peter K., additional, Withers, Shawn, additional, Wroblewski, Kristen, additional, Karrison, Theodore, additional, Hutson, Samuel, additional, Wheeler, Kelsey, additional, Cohen, William, additional, Lykins, Joseph, additional, and McLeod, Rima, additional

Published
2019
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42. The array of clinical phenotypes of males with mutations in Methyl‐CpG binding protein 2

Author

Neul, Jeffrey L., primary, Benke, Timothy A., additional, Marsh, Eric D., additional, Skinner, Steven A., additional, Merritt, Jonathan, additional, Lieberman, David N., additional, Standridge, Shannon, additional, Feyma, Timothy, additional, Heydemann, Peter, additional, Peters, Sarika, additional, Ryther, Robin, additional, Jones, Mary, additional, Suter, Bernhard, additional, Kaufmann, Walter E., additional, Glaze, Daniel G., additional, and Percy, Alan K., additional

Published
2018
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46. Contributors

Author

Abdulla, Ra-id, Adams, Sherri, Aks, Steven E., Alessi, Lauren J., Anton, Kristin, Arseneau, Micaela, Babiuch, Allison E., Ballan, Wassim, Banderas, Christine A., Barone, Dean, Bates, Elizabeth, Baxter, Hilary W., Black, Elizabeth, Bock, Amber M.R., Boyer, Kenneth M., Brown, Ann-Marie, Budek, Cynthia Etzler, Burda, Anthony M., Burgess, Rachael M., Buzby, Marianne, Byrne, Carly, Calhoun, Jackie, Callow, Louise, Campbell, J. Fallon, Carpenter, Aaron E., Chaisson, Ellen C., Chang, Johanna, Colville, Gillian, Conway, Edward E., Jr., Corlett, Karen, Cortez, Edmundo P., Craig, Vicki L., Dalton, Kristen L., Castillo, Sylvia del, Desimone, Rachel, Dettmer, Kristin, Dickson, Anna, Disabato, Jennifer A., Ditro, Colleen, Eichler, Valarie, Elliott, Elizabeth P., Ellis-Pelletier, Amanda D., Eschbach, Krista, Fagbuyi, Daniel B., Feiteiro, Felipe, Felauer, Ann Marie, Ferdman, Ronald M., Finkbeiner, Kelly, Forbes, Paulette E., Franken, Aimee, Fuchs, Samme, Gambetta, Kathryn, Ganesan, Rani, Gardner, Mary Katherine, Gentry, Ryan W., Gilbert, Megan E., Goldfarb, Samuel B., Goodhue, Catherine J., Goodman, Daniel J., Goreth, Michelle Borzik, Gourineni, Prasad, Goyal, Alka, Green, Angela, Guentensberger, Deborah Lynn, Harrison, Margaret S., Harvey, Helen, Haut, Cathy M., Hawkins, Harriet S., Hedge, Vanessa L., Henderson, Carrie M., Herendeen, Pamela Ann, Heydemann, Peter, Highsmith, Heather Young, Hoffer, Amy, Holleman, Judie, Hopper, Emily, Hornor, Gail, Hough, Rhonda M., Howells, Amy J., Hueckel, Rémi M., Hunter, Jay M., Irving, Sharon Y., Jacobson, Jessica L., Jacobson, Phillip, Jandeska, Sara, Jean, Ashley M., Johnson, Angela M., Johnson, Amanda, Joiner, Jennifer L., Jones, Danielle Laughlin, Jones, Carolyn, Jordan, Jeremy, Justice, Lindsey, Kalis, Vanessa M., Kamath, Sameer, Kane, Jason M., Kent, Paul M., Kesavan, Anil, Kitchen, Bonnie, Kline-Tilford, Andrea M., Koo, Jeannie, Krejci, Maggie, Kubic, Arthur, Kuipers, Jenna, Kuppy, Joanna R., Kuzin, Julia, Lam, Ray, Landman, Matthew P., Large, Belinda J.S., Larson, Austin A., Laws, Deborah Walter, Lee, Samantha, Leggett, Brett D., Lerret, Stacee M., Lesser, Daniel J., Lewis, Kevin R., Limoges, Cassie J., Linsler, Rose, Linzer, Jeffrey F., Sr., Little, Jeanne, Lovett, Marlina E., Lyons, Evelyn M., Mackenburg-Mohn, Mary, Madden, Maureen A., Mahant, Sanjay, Majmundar, Neil, Malhotra, Amisha, Mantis, Stelios, Mariano, Karley J., Marks, Jill, Markus-Rodden, Minnette, Martin, Sarah, Maslonka, Kenneth, Mathur, Mudit, Maurice, Samuel M., Mauricio, Riza V., Mavis, Alisha M., Maymi, Michael A., McAuley, James B., McCann, Sean, McConnie, Randolph M., McDonald, Steven A., McEvoy, Macallagh J., Mackie McMillan, Tracy Lynne, Lee McPeters, Steadman, Mead, John D., Mejia, Rodrigo, Meliones, Christine, Meliones, Jon, Grimason Mills, Michele, Mjaanes, Jeffrey M., Mohr, Lynn, Moore, Sara E., Morales, David L.S., Morris, Kristen A., Mouat, Laurette E., Mubayed, Lamya, Murchie, Wendy E., Nash, Colleen, Newman, Christopher D., Nicoara, Oana M., Noonan, Michal, Nute, Megan M., O’Brien, Nicole F., O’Connor, Nicole R., Oei, Grace, Olivero, Anthony, Olivero, Rosemary, Ong, Hilary, Parker, Holly S., Pasaron, Raquel, Patel, Niraj C., Paul, George W., Payne, Asha S., Peck, Jessica L., Phipps, Amy, Pierce, James, Pike, Megan, Poulakidas, Stathis, Quinones, Saribel Garcia, Rajasekhar, Hariprem, Rake, Alyssa, Rand, Thomas H., Ratz, Natalie B., Reed, Jennifer, Reid, Brenda, Reid, Priscila, Resler, Julia A., Riccioni, Mark, Rich, Christopher C., Riess, Laurel B., Rodts, Mary F., Roth, Jodie, Ruppel, Randall, Russo, Bryce, Sadecki-Lund, Corrinne, Schneider, Deanna, Schoonover, Jennifer J., Schwartz, Stephanie P., Sebbens, Danielle, Seelye, Lukas L., Severin, Paul N., Shah, Ami, Shannon, Katherine K., Shields, Kerry, Siew, Ruth, Siffermann, Emily S.W., Simone, Shari, Simonsen, Kari A., Sorce, Lauren, Spruit, Jessica L., Staebler, Suzanne, Starck, Jessica, Stewart, Heather D., Stojadinovic, Bonnie J., Stone, Suzette Renee, Strokosch, Gary R., Su, Erik R., Suhayda, Rosemarie, Sullivan, Kelly M., Swain, Kelly A., Taggart, Kristie, Tilford, Bradley, Tkaczyk, Rachel, Trimarchi, Tara, Tucker, Dawn, Tumulty, Jamie, Turk, Leanne, Turner, David A., Twombley, Katherine, Upperman, Jeffrey S., Van Waning, Natalie R., Van Wyk, Brynna, Vitola, Bernadette, Wahl, Michael, Waibel, Elizabeth Murphy, Wainwright, Mark S., Watkins, Summer, Weber, Mark D., Weintraub, Barbara, Werner, Jason A., Whitley-Williams, Patricia N., Whitcomb, John J., Wilkerson, Marylouise K., Williams, Brennan M., Wise, Barbara V., Wong, Wai, Worthen, H. Michael, Wright, Karen, Xu, Thomas, Yee-Nevárez, Martha, Zagustin, Tamara, Zakrzewski, Paula, Zielinski, Tresa E., Zonsius, Mary C., and Zubrow, Michael E.

Published
2021
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49. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

Author

McDonald, Craig M, primary, Campbell, Craig, additional, Torricelli, Ricardo Erazo, additional, Finkel, Richard S, additional, Flanigan, Kevin M, additional, Goemans, Nathalie, additional, Heydemann, Peter, additional, Kaminska, Anna, additional, Kirschner, Janbernd, additional, Muntoni, Francesco, additional, Osorio, Andrés Nascimento, additional, Schara, Ulrike, additional, Sejersen, Thomas, additional, Shieh, Perry B, additional, Sweeney, H Lee, additional, Topaloglu, Haluk, additional, Tulinius, Már, additional, Vilchez, Juan J, additional, Voit, Thomas, additional, Wong, Brenda, additional, Elfring, Gary, additional, Kroger, Hans, additional, Luo, Xiaohui, additional, McIntosh, Joseph, additional, Ong, Tuyen, additional, Riebling, Peter, additional, Souza, Marcio, additional, Spiegel, Robert J, additional, Peltz, Stuart W, additional, Mercuri, Eugenio, additional, Alfano, Lindsay N, additional, Eagle, Michelle, additional, James, Meredith K, additional, Lowes, Linda, additional, Mayhew, Anna, additional, Mazzone, Elena S, additional, Nelson, Leslie, additional, Rose, Kristy J, additional, Abdel-Hamid, Hoda Z, additional, Apkon, Susan D, additional, Barohn, Richard J, additional, Bertini, Enrico, additional, Bloetzer, Clemens, additional, de Vaud, Lausanne Canton, additional, Butterfield, Russell J, additional, Chabrol, Brigitte, additional, Chae, Jong-Hee, additional, Jongno-gu, Daehak-ro, additional, Comi, Giacomi Pietro, additional, Darras, Basil T, additional, Dastgir, Jahannaz, additional, Desguerre, Isabelle, additional, Escobar, Raul G, additional, Finanger, Erika, additional, Guglieri, Michela, additional, Hughes, Imelda, additional, Iannaccone, Susan T, additional, Jones, Kristi J, additional, Karachunski, Peter, additional, Kudr, Martin, additional, Lotze, Timothy, additional, Mah, Jean K, additional, Mathews, Katherine, additional, Nevo, Yoram, additional, Parsons, Julie, additional, Péréon, Yann, additional, de Queiroz Campos Araujo, Alexandra Prufer, additional, Renfroe, J Ben, additional, de Resende, Maria Bernadete Dutra, additional, Ryan, Monique, additional, Selby, Kathryn, additional, Tennekoon, Gihan, additional, and Vita, Giuseppe, additional

Published
2017
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50. Point-of-care testing for Toxoplasma gondii IgG/IgM using Toxoplasma ICT IgG-IgM test with sera from the United States and implications for developing countries

Author

Begeman, Ian J., primary, Lykins, Joseph, additional, Zhou, Ying, additional, Lai, Bo Shiun, additional, Levigne, Pauline, additional, El Bissati, Kamal, additional, Boyer, Kenneth, additional, Withers, Shawn, additional, Clouser, Fatima, additional, Noble, A. Gwendolyn, additional, Rabiah, Peter, additional, Swisher, Charles N., additional, Heydemann, Peter T., additional, Contopoulos-Ioannidis, Despina G., additional, Montoya, Jose G., additional, Maldonado, Yvonne, additional, Ramirez, Raymund, additional, Press, Cindy, additional, Stillwaggon, Eileen, additional, Peyron, François, additional, and McLeod, Rima, additional

Published
2017
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