المؤلفون: 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

المصدر: Neurology. 98(1)

مصطلحات موضوعية: Orphan Drug, Parkinson's Disease, Clinical Research, Neurodegenerative, Aging, Patient Safety, Neurosciences, Brain Disorders, Rare Diseases, Clinical Trials and Supportive Activities, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Neurological, Amino Acids, Antiparkinson Agents, Carboxy-Lyases, Genetic Therapy, Humans, Parkinson Disease, Quality of Life, Treatment Outcome, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9jh0j4gb

المؤلفون: Frohlich, Joel, Miller, Meghan T, Bird, Lynne M, Garces, Pilar, Purtell, Hannah, Hoener, Marius C, Philpot, Benjamin D, Sidorov, Michael S, Tan, Wen-Hann, Hernandez, Maria-Clemencia, Rotenberg, Alexander, Jeste, Shafali S, Krishnan, Michelle, Khwaja, Omar, Hipp, Joerg F

المصدر: Biological Psychiatry. 85(9)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurosciences, Mental Health, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Angelman Syndrome, Beta Rhythm, Brain Waves, Cerebral Cortex, Child, Child, Preschool, Delta Rhythm, Electroencephalography, Genotype, Humans, Infant, Phenotype, Theta Rhythm, Angelman syndrome, Biomarkers, EEG, GABA, GABRB3-GABRA5-GABRG3 gene cluster, UBE3A, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Biological sciences, Biomedical and clinical sciences, Psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/69b129h4

المؤلفون: Del Valle Rubido, Marta, Hollander, Eric, McCracken, James T., Shic, Frederick, Noeldeke, Jana, Boak, Lauren, Khwaja, Omar, Sadikhov, Shamil, Fontoura, Paulo, Umbricht, Daniel

المصدر: Journal of Autism and Developmental Disorders. Dec 2020 50(12):4412-4430.

Peer Reviewed: Y

Page Count: 19

Descriptors: Autism, Pervasive Developmental Disorders, Genetics, Adults, Social Cognition, Eye Movements, Interpersonal Communication, Olfactory Perception

المؤلفون: Sanders, Stephan J, Campbell, Arthur J, Cottrell, Jeffrey R, Moller, Rikke S, Wagner, Florence F, Auldridge, Angie L, Bernier, Raphael A, Catterall, William A, Chung, Wendy K, Empfield, James R, George, Alfred L, Hipp, Joerg F, Khwaja, Omar, Kiskinis, Evangelos, Lal, Dennis, Malhotra, Dheeraj, Millichap, John J, Otis, Thomas S, Petrou, Steven, Pitt, Geoffrey, Schust, Leah F, Taylor, Cora M, Tjernagel, Jennifer, Spiro, John E, Bender, Kevin J

المصدر: Trends in neurosciences. 41(7)

مصطلحات موضوعية: Animals, Humans, NAV1.2 Voltage-Gated Sodium Channel, Neurodevelopmental Disorders, Na(V)1.2, autism spectrum disorder, developmental delay, epilepsy, intellectual disability, neurodevelopment, neurodevelopmental disorder, sodium channel, Neurodegenerative, Brain Disorders, Neurosciences, Genetics, Mental Health, Intellectual and Developmental Disabilities (IDD), Autism, 2.1 Biological and endogenous factors, Aetiology, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1b1284bd

المؤلفون: Goeldner, Celia, Kishnani, Priya, Skotko, Brian G., Lirio Casero, Julian, Hipp, Joerg F., Derks, Michael, Hernandez, Maria-Clemencia, Khwaja, Omar, Lennon-Chrimes, Sian, Noeldeke, Jana, Pellicer, Sabine, Squassante, Lisa, Visootsak, Jeannie, Wandel, Christoph, Fontoura, Paulo, Liogier d'Ardhuy, Xavier, Clematis Study Group

مصطلحات موضوعية: Adaptive behavior, Cognition, Down syndrome, EEG, GABAA-α5

وصف الملف: application/pdf

Relation: J Neurodev Disord. 2022 Feb 5;14(1):10; http://hdl.handle.net/10230/57475

الاتاحة: http://hdl.handle.net/10230/57475
https://doi.org/10.1186/s11689-022-09418-0

المؤلفون: 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

المساهمون: Astellas Pharma US, Novartis, National Institutes of Health, Biogen, Rett Syndrome Research Trust, LouLou Foundation, Simons Foundation, Simons Initiative for the Developing Brain

المصدر: iScience ; volume 25, issue 9, page 104966 ; ISSN 2589-0042

الاتاحة: http://dx.doi.org/10.1016/j.isci.2022.104966
https://api.elsevier.com/content/article/PII:S258900422201238X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S258900422201238X?httpAccept=text/plain

المؤلفون: Taher, Ali T., Viprakasit, Vip, Cappellini, Maria Domenica, Kraus, Dominik, Cech, Patrick, Volz, Dietmar, Winter, Erica, Nave, Stephane, Dukart, Juergen, Khwaja, Omar, Koerner, Annette, Hermosilla, Ricardo, Brugnara, Carlo

مصطلحات موضوعية: Hematology

Relation: url:https://www.openaccessrepository.it/communities/itmirror; https://www.openaccessrepository.it/record/204860

الاتاحة: https://www.openaccessrepository.it/record/204860
https://doi.org/10.1111/bjh.17479

المؤلفون: Del Valle Rubido, Marta, Hollander, Eric, McCracken, James T., Shic, Frederick, Noeldeke, Jana, Boak, Lauren, Khwaja, Omar, Sadikhov, Shamil, Fontoura, Paulo, Umbricht, Daniel

المصدر: Journal of Autism and Developmental Disorders ; volume 50, issue 12, page 4431-4432 ; ISSN 0162-3257 1573-3432

الاتاحة: https://doi.org/10.1007/s10803-020-04522-3
https://link.springer.com/content/pdf/10.1007/s10803-020-04522-3.pdf
https://link.springer.com/article/10.1007/s10803-020-04522-3/fulltext.html

المؤلفون: Demarest, S., Pestana-Knight, Elia M., Olson, Heather E., Downs, J., Marsh, Eric D., Kaufmann, Walter E., Partridge, Carol Anne, Leonard, H., Gwadry-Sridhar, Femida, Frame, Katheryn Elibri, Cross, J. Helen, Chin, Richard F.M., Parikh, S., Panzer, Axel, Weisenberg, Judith, Utley, K., Jaksha, Amanda, Amin, Sam, Khwaja, Omar, Devinsky, O., Neul, Jeffery L., Percy, Alan K., Benke, T. A.

المصدر: Demarest , S , Pestana-Knight , E M , Olson , H E , Downs , J , Marsh , E D , Kaufmann , W E , Partridge , C A , Leonard , H , Gwadry-Sridhar , F , Frame , K E , Cross , J H , Chin , R F M , Parikh , S , Panzer , A , Weisenberg , J , Utley , K , Jaksha , A , Amin , S , Khwaja , O , Devinsky , O , Neul , J L , Percy , A K & ....

مصطلحات موضوعية: CDKL5, Cortical visual impairment, Epilepsy, Intellectual disability, Rare disorder, Severity assessment

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/1983/8937e7e2-e8eb-4d76-a2c6-79d106e0651f
https://research-information.bris.ac.uk/en/publications/8937e7e2-e8eb-4d76-a2c6-79d106e0651f
https://doi.org/10.1016/j.pediatrneurol.2019.03.017
https://research-information.bris.ac.uk/ws/files/209229667/Full_text_PDF_accepted_author_manuscript_.pdf
http://www.scopus.com/inward/record.url?scp=85066133131&partnerID=8YFLogxK

المؤلفون: Verbiest, Astrid, Hvistendahl, Mark Krogh, Bolognani, Federico, Li, Carrie, Khwaja, Omar, Jeppesen, Palle Bekker, Joly, Francisca, Vanuytsel, Tim

المصدر: Transplantation ; volume 107, issue 7S, page 10-11 ; ISSN 0041-1337

الاتاحة: http://dx.doi.org/10.1097/01.tp.0000945536.55347.a8
https://journals.lww.com/10.1097/01.tp.0000945536.55347.a8

المؤلفون: Verbiest, Astrid, Hvistendahl, Mark Krogh, Bolognani, Federico, Li, Carrie, Khwaja, Omar, Joly, Francisca, Jeppesen, Palle Bekker, Vanuytsel, Tim

المصدر: Transplantation ; volume 107, issue 7S, page 13-13 ; ISSN 0041-1337

الاتاحة: http://dx.doi.org/10.1097/01.tp.0000945552.84083.07
https://journals.lww.com/10.1097/01.tp.0000945552.84083.07

المؤلفون: Verbiest, Astrid, Hvistendahl, Mark K., Bolognani, Federico, Li, Carrie, Khwaja, Omar, Jeppesen, Palle B., Joly, Francisca, Vanuytsel, Tim

المصدر: Gastroenterology ; volume 164, issue 6, page S-1160 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(23)03675-2
https://api.elsevier.com/content/article/PII:S0016508523036752?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508523036752?httpAccept=text/plain

المؤلفون: Verbiest, Astrid, Hvistendahl, Mark K., Bolognani, Federico, Li, Carrie, Khwaja, Omar, Joly, Francisca, Jeppesen, Palle B., Vanuytsel, Tim

المصدر: Gastroenterology ; volume 164, issue 6, page S-1161 ; ISSN 0016-5085

الاتاحة: http://dx.doi.org/10.1016/s0016-5085(23)03676-4
https://api.elsevier.com/content/article/PII:S0016508523036764?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0016508523036764?httpAccept=text/plain

المؤلفون: Bonati, Ulrike, Holiga, Štefan, Hellbach, Nicole, Risterucci, Céline, Bergauer, Tobias, Tang, Wakana, Hafner, Patricia, Thoeni, Alain, Bieri, Oliver, Gerlach, Irene, Marquet, Anne, Khwaja, Omar, Sambataro, Fabio, BERTOLINO, Alessandro, Dukart, Juergen, Fischmann, Arne, Fischer, Dirk, Czech, Christian

المساهمون: Bonati, Ulrike, Holiga, Štefan, Hellbach, Nicole, Risterucci, Céline, Bergauer, Tobia, Tang, Wakana, Hafner, Patricia, Thoeni, Alain, Bieri, Oliver, Gerlach, Irene, Marquet, Anne, Khwaja, Omar, Sambataro, Fabio, Bertolino, Alessandro, Dukart, Juergen, Fischmann, Arne, Fischer, Dirk, Czech, Christian

مصطلحات موضوعية: Spinal Muscular Atrophy, Quantitative-MRI

Relation: info:eu-repo/semantics/altIdentifier/pmid/28491897; volume:4; issue:5; firstpage:292; lastpage:304; numberofpages:13; journal:ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY; http://hdl.handle.net/11586/186176

الاتاحة: http://hdl.handle.net/11586/186176
https://doi.org/10.1002/acn3.406

المؤلفون: 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.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2014 Mar . 111(12), 4596-4601.

URL الوصول: https://www.jstor.org/stable/23771112

المؤلفون: Mercuri, Eugenio, Deconinck, Nicolas, Mazzone, Elena S, Nascimento, Andres, Oskoui, Maryam, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Boespflug-Tanguy, Odile, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, Day, John W, SUNFISH Study Group

المساهمون: Mercuri, Eugenio, Deconinck, Nicola, Mazzone, Elena S, Nascimento, Andre, Oskoui, Maryam, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Boespflug-Tanguy, Odile, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, Day, John W, Pera, MARIA CARMELA

مصطلحات موضوعية: Adolescent, Adult, Aged, Azo Compound, Child, Preschool, Double-Blind Method, Human, Young Adult, Pyrimidine, Spinal Muscular Atrophies of Childhood

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000734663200021; volume:21; issue:1; firstpage:42; lastpage:52; numberofpages:11; journal:LANCET NEUROLOGY; https://hdl.handle.net/11381/2997653; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121472126

الاتاحة: https://hdl.handle.net/11381/2997653
https://doi.org/10.1016/S1474-4422(21)00367-7

المؤلفون: Sturm, Stefan, Günther, Andreas, Jaber, Birgit, Jordan, Paul, Al Kotbi, Nada, Parkar, Nikhat, Cleary, Yumi, Frances, Nicolas, Bergauer, Tobias, Heinig, Katja, Kletzl, Heidemarie, Marquet, Anne, Ratni, Hasane, Poirier, Agnès, Müller, Lutz, Czech, Christian, Khwaja, Omar

المساهمون: F. Hoffmann-La Roche

المصدر: British Journal of Clinical Pharmacology ; volume 85, issue 1, page 181-193 ; ISSN 0306-5251 1365-2125

الاتاحة: http://dx.doi.org/10.1111/bcp.13786
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fbcp.13786
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bcp.13786
https://onlinelibrary.wiley.com/doi/full-xml/10.1111/bcp.13786
https://bpspubs.onlinelibrary.wiley.com/doi/pdf/10.1111/bcp.13786

المؤلفون: Del Valle Rubido, Marta, McCracken, James T., Hollander, Eric, Shic, Frederick, Noeldeke, Jana, Boak, Lauren, Khwaja, Omar, Sadikhov, Shamil, Fontoura, Paulo, Umbricht, Daniel

المساهمون: F. Hoffmann-La Roche

المصدر: Autism Research ; volume 11, issue 11, page 1567-1579 ; ISSN 1939-3792 1939-3806

الاتاحة: http://dx.doi.org/10.1002/aur.2026
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Faur.2026
https://onlinelibrary.wiley.com/doi/pdf/10.1002/aur.2026

المؤلفون: 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

المساهمون: Spinal Muscular Atrophy Foundation, PTC Therapeutics, F. Hoffmann-La Roche AG

المصدر: Journal of Medicinal Chemistry ; volume 61, issue 15, page 6501-6517 ; ISSN 0022-2623 1520-4804

الاتاحة: http://dx.doi.org/10.1021/acs.jmedchem.8b00741
https://pubs.acs.org/doi/pdf/10.1021/acs.jmedchem.8b00741

المؤلفون: Chen, Xing, Siebourg-Polster, Juliane, Wolf, Detlef, Czech, Christian, Bonati, Ulrike, Fischer, Dirk, Khwaja, Omar, Strahm, Martin

المساهمون: Gillingwater, Thomas H

المصدر: PLOS ONE ; volume 12, issue 1, page e0170472 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0170472
http://dx.plos.org/10.1371/journal.pone.0170472