Discovery of Risdiplam, a Selective Survival of Motor Neuron‑2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)
Ratni, Hasane, Ebeling, Martin, Baird, John, Bendels, Stefanie, Bylund, Johan, Chen, Karen S, Denk, Nora, Feng, Zhihua, Green, Luke, Guerard, Melanie, Jablonski, Philippe, Jacobsen, Bjoern, Khwaja, Omar, Kletzl, Heidemarie, Ko, Chien-Ping, Kustermann, Stefan, Marquet, Anne, Metzger, Friedrich, Mueller, Barbara, Naryshkin, Nikolai A, Paushkin, Sergey V, Pinard, Emmanuel, Poirier, Agnès, Reutlinger, Michael, Weetall, Marla, Zeller, Andreas, Zhao, Xin, Mueller, Lutz
Published in Journal of medicinal chemistry (09.08.2018)
Published in Journal of medicinal chemistry (09.08.2018)
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Journal Article
Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome
Khwaja, Omar S., Ho, Eugenia, Barnes, Katherine V., O'Leary, Heather M., Pereira, Luis M., Finkelstein, Yaron, Nelson, Charles A., Vogel-Farley, Vanessa, DeGregorio, Geneva, Holm, Ingrid A., Khatwa, Umakanth, Kapur, Kush, Alexander, Mark E., Finnegan, Deirdre M., Cantwell, Nicole G., Walco, Alexandra C., Rappaport, Leonard, Gregas, Matt, Fichorova, Raina N., Shannon, Michael W., Sur, Mriganka, Kaufmann, Walter E.
Published in Proceedings of the National Academy of Sciences - PNAS (25.03.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (25.03.2014)
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Journal Article
Safety of AADC Gene Therapy for Moderately Advanced Parkinson Disease: Three-Year Outcomes From the PD-1101 Trial
Christine, Chadwick W, Richardson, R Mark, Van Laar, Amber D, Thompson, Marin E, Fine, Elisabeth M, Khwaja, Omar S, Li, Chunming, Liang, Grace S, Meier, Andreas, Roberts, Eiry W, Pfau, Madeline L, Rodman, Josh R, Bankiewicz, Krystof S, Larson, Paul S
Published in Neurology (04.01.2022)
Published in Neurology (04.01.2022)
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Identification and validation of biomarkers for autism spectrum disorders
Loth, Eva, Spooren, Will, Ham, Lindsay M., Isaac, Maria B., Auriche-Benichou, Caroline, Banaschewski, Tobias, Baron-Cohen, Simon, Broich, Karl, Bölte, Sven, Bourgeron, Thomas, Charman, Tony, Collier, David, de Andres-Trelles, Fernando, Durston, Sarah, Ecker, Christine, Elferink, Andre, Haberkamp, Marion, Hemmings, Robert, Johnson, Mark H., Jones, Emily J. H., Khwaja, Omar S., Lenton, Sabine, Mason, Luke, Mantua, Valentina, Meyer-Lindenberg, Andreas, Lombardo, Michael V., O'Dwyer, Laurence, Okamoto, Koichi, Pandina, Gahan J., Pani, Luca, Persico, Antonio M., Simonoff, Emily, Tauscher-Wisniewski, Sitra, Llinares-Garcia, Jordi, Vamvakas, Spiros, Williams, Steve, Buitelaar, Jan K., Murphy, Declan G. M.
Published in Nature reviews. Drug discovery (01.01.2016)
Published in Nature reviews. Drug discovery (01.01.2016)
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Journal Article
Motor, cognitive, and functional declines contribute to a single progressive factor in early HD
Schobel, Scott A, Palermo, Giuseppe, Auinger, Peggy, Long, Jeffrey D, Ma, Shiyang, Khwaja, Omar S, Trundell, Dylan, Cudkowicz, Merit, Hersch, Steven, Sampaio, Cristina, Dorsey, E Ray, Leavitt, Blair R, Kieburtz, Karl D, Sevigny, Jeffrey J, Langbehn, Douglas R, Tabrizi, Sarah J
Published in Neurology (12.12.2017)
Published in Neurology (12.12.2017)
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Journal Article
Feasibility of Using Microsoft Kinect to Assess Upper Limb Movement in Type III Spinal Muscular Atrophy Patients
Chen, Xing, Siebourg-Polster, Juliane, Wolf, Detlef, Czech, Christian, Bonati, Ulrike, Fischer, Dirk, Khwaja, Omar, Strahm, Martin
Published in PloS one (25.01.2017)
Published in PloS one (25.01.2017)
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Journal Article
Spectrum of neurodevelopmental disabilities in children with cerebellar malformations
BOLDUC, MARIE‐EVE, DU PLESSIS, ADRÉ J, SULLIVAN, NANCY, KHWAJA, OMAR S, ZHANG, XUN, BARNES, KATHERINE, ROBERTSON, RICHARD L, LIMPEROPOULOS, CATHERINE
Published in Developmental medicine and child neurology (01.05.2011)
Published in Developmental medicine and child neurology (01.05.2011)
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Journal Article
Rett syndrome diagnostic criteria: Lessons from the Natural History Study
Percy, Alan K., Neul, Jeffrey L., Glaze, Daniel G., Motil, Kathleen J., Skinner, Steven A., Khwaja, Omar, Lee, Hye-Seung, Lane, Jane B., Barrish, Judy O, Annese, Fran, McNair, Lauren, Graham, Joy, Barnes, Katherine
Published in Annals of neurology (01.12.2010)
Published in Annals of neurology (01.12.2010)
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Journal Article
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Christina Elhosary, P., Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
Published in Epilepsia (Copenhagen) (01.08.2012)
Published in Epilepsia (Copenhagen) (01.08.2012)
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Journal Article
Case of infantile onset spinocerebellar ataxia type 5
Jacob, Francois-Dominique, Ho, Eugenia S, Martinez-Ojeda, Mayra, Darras, Basil T, Khwaja, Omar S
Published in Journal of child neurology (01.10.2013)
Published in Journal of child neurology (01.10.2013)
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Journal Article
Detecting autonomic response to pain in Rett syndrome
O'Leary, Heather M., Marschik, Peter B., Khwaja, Omar S., Ho, Eugenia, Barnes, Katherine V., Clarkson, Tessa W., Bruck, Natalie M., Kaufmann, Walter E.
Published in Developmental neurorehabilitation (17.02.2017)
Published in Developmental neurorehabilitation (17.02.2017)
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Journal Article
How Accurately Does Current Fetal Imaging Identify Posterior Fossa Anomalies?
Limperopoulos, Catherine, Robertson, Richard L., Jr, Khwaja, Omar S, Robson, Caroline D, Estroff, Judy A, Barnewolt, Carole, Levine, Deborah, Morash, Donna, Nemes, Luanne, Zaccagnini, Linda, du Plessis, Adre J
Published in American journal of roentgenology (1976) (01.06.2008)
Published in American journal of roentgenology (1976) (01.06.2008)
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Journal Article
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome
Zlatic, Stephanie A., Duong, Duc, Gadalla, Kamal K.E., Murage, Brenda, Ping, Lingyan, Shah, Ruth, Fink, James J., Khwaja, Omar, Swanson, Lindsay C., Sahin, Mustafa, Rayaprolu, Sruti, Kumar, Prateek, Rangaraju, Srikant, Bird, Adrian, Tarquinio, Daniel, Carpenter, Randall, Cobb, Stuart, Faundez, Victor
Published in iScience (16.09.2022)
Published in iScience (16.09.2022)
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Journal Article
Monozygotic Twins With Trisomy 21 and Partial Agenesis of the Corpus Callosum
Jacob, Francois D., MD, Dobson, Lori J., MS, Estroff, Judy A., MD, Khwaja, Omar S., MD, PhD
Published in Pediatric neurology (01.04.2013)
Published in Pediatric neurology (01.04.2013)
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Journal Article
Risdiplam in Type 1 Spinal Muscular Atrophy
Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicolas, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent
Published in The New England journal of medicine (11.03.2021)
Published in The New England journal of medicine (11.03.2021)
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Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Darras, Basil T, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Vlodavets, Dmitry, Wang, Yi, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Fontoura, Paulo, Servais, Laurent
Published in The New England journal of medicine (29.07.2021)
Published in The New England journal of medicine (29.07.2021)
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Morbidity and medication in a large population of individuals with Down syndrome compared to the general population
Alexander, Myriam, Petri, Hans, Ding, Yingjie, Wandel, Christoph, Khwaja, Omar, Foskett, Nadia
Published in Developmental medicine and child neurology (01.03.2016)
Published in Developmental medicine and child neurology (01.03.2016)
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Journal Article
A phase 2 clinical trial of a vasopressin V1a receptor antagonist shows improved adaptive behaviors in men with autism spectrum disorder
Bolognani, Federico, Del Valle Rubido, Marta, Squassante, Lisa, Wandel, Christoph, Derks, Michael, Murtagh, Lorraine, Sevigny, Jeff, Khwaja, Omar, Umbricht, Daniel, Fontoura, Paulo
Published in Science translational medicine (08.05.2019)
Published in Science translational medicine (08.05.2019)
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Journal Article
Tu1916 THE LONG-ACTING GLP-2 AGONIST APRAGLUTIDE DECREASES PARENTERAL SUPPORT NEEDS IN SHORT BOWEL SYNDROME WITH INTESTINAL FAILURE AND COLON-IN-CONTINUITY
Verbiest, Astrid, Hvistendahl, Mark K., Bolognani, Federico, Li, Carrie, Khwaja, Omar, Jeppesen, Palle B., Joly, Francisca, Vanuytsel, Tim
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
Published in Gastroenterology (New York, N.Y. 1943) (01.05.2023)
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