المؤلفون: Tizzano, Eduardo F., Quijano-Roy, Susana, Servais, Laurent, Parsons, Julie A., Aharoni, Sharon, Lakhotia, Arpita, Finkel, Richard S., Mercuri, Eugenio, Kirschner, Janbernd, de Vivo, Darryl C., Saito, Kayoko, Raju, Dheeraj, Dabbous, Omar, Mumneh, Nayla, Reyna, Sandra P., Faulkner, Eric, Benguerba, Kamal

المساهمون: Hôpital Raymond Poincaré AP-HP, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Novartis Gene Therapies, World Health Organization

المصدر: ISSN: 1090-3798 ; European Journal of Paediatric Neurology ; https://hal.science/hal-04724544 ; European Journal of Paediatric Neurology, 2024, 53, pp.18-24. ⟨10.1016/j.ejpn.2024.08.006⟩.

مصطلحات موضوعية: four SMN2 gene copies, Onasemnogene abeparvovec, Real-world data, RESTORE registry, Spinal muscular atrophy, Survival motor neuron 2 gene, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04724544
https://doi.org/10.1016/j.ejpn.2024.08.006

المؤلفون: Burnette, W, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry, Finanger, Erika, Coffey, Christopher, Yankey, Jon, Cudkowicz, Merit, McGovern, Michelle, McNeil, D, Arnold, W, Kissel, John, Bartlett, Amy, Kolb, Stephen, Kingsley, Allison, Swoboda, Kathryn, Reyna, Sandra, Sakonju, Ai, Darras, Basil, Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan, Parsons, Julie, Connolly, Anne, Chiriboga, Claudia, McDonald, Craig

مصطلحات موضوعية: Altruism, Healthy controls, Network, Social media, Spinal muscle atrophy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4m60t574

المؤلفون: Shell, Richard D., McGrattan, Katlyn E., Hurst-Davis, Rebecca, Young, Sally Dunaway, Baranello, Giovanni, Lavrov, Arseniy, O'Brien, Eamonn, Wallach, Shiri, LaMarca, Nicole, Reyna, Sandra P., Darras, Basil T.

المساهمون: Novartis Gene Therapies

المصدر: Neuromuscular Disorders ; volume 33, issue 8, page 670-676 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.06.005
https://api.elsevier.com/content/article/PII:S0960896623001530?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623001530?httpAccept=text/plain

المؤلفون: Kolb, Stephen, Coffey, Christopher, Yankey, Jon, Krosschell, Kristin, Arnold, W, Rutkove, Seward, Swoboda, Kathryn, Reyna, Sandra, Sakonju, Ai, Darras, Basil, Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne, Chiriboga, Claudia, Burnette, W, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry, Finanger, Erika, Cudkowicz, Merit, McGovern, Michelle, McNeil, D, Finkel, Richard, Iannaccone, Susan, Kaye, Edward, Kingsley, Allison, Renusch, Samantha, McGovern, Vicki, Wang, Xueqian, Zaworski, Phillip, Prior, Thomas, Burghes, Arthur, Bartlett, Amy, Kissel, John, McDonald, Craig

المصدر: Annals of Neurology. 82(6)

مصطلحات موضوعية: Biomarkers, Child, Preschool, Cohort Studies, Female, Humans, Infant, Longitudinal Studies, Male, Prospective Studies, Spinal Muscular Atrophies of Childhood, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1ch04965

المؤلفون: Rosewich, Hendrik, Sweney, Matthew T, DeBrosse, Suzanne, Ess, Kevin, Ozelius, Laurie, Andermann, Eva, Andermann, Frederick, Andrasco, Gene, Belgrade, Alice, Brashear, Allison, Ciccodicola, Sharon, Egan, Lynn, George, Alfred L, Lewelt, Aga, Magelby, Joshua, Merida, Mario, Newcomb, Tara, Platt, Vicky, Poncelin, Dominic, Reyna, Sandra, Sasaki, Masayuki, Sotero de Menezes, Marcio, Sweadner, Kathleen, Viollet, Louis, Zupanc, Mary, Silver, Kenneth, Swoboda, Kathryn

المصدر: Neurology Genetics. 3(2)

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Genetics, Neurosciences, Rare Diseases, Dystonia, Neurodegenerative, Pediatric, 4.1 Discovery and preclinical testing of markers and technologies, Clinical sciences

URL الوصول: https://escholarship.org/uc/item/92d5n5bj

المؤلفون: Patel, Anish, Toro, Walter, Bourke, Siobhan, Oluboyede, Yemi, Barbier, Sylvaine, Bogoeva, Nataliya, Reyna, Sandra P., Dabbous, Omar

المصدر: PLoS ONE; 10/21/2024, Vol. 19 Issue 10, p1-20, 20p

مصطلحات موضوعية: CAREGIVER attitudes, SPINAL muscular atrophy, MEDICAL personnel, BURDEN of care, NEUROMUSCULAR diseases

المؤلفون: Kolb, Stephen, Coffey, Christopher, Yankey, Jon, Krosschell, Kristin, Arnold, W, Rutkove, Seward, Swoboda, Kathryn, Reyna, Sandra, Sakonju, Ai, Darras, Basil, Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan, Parsons, Julie, Connolly, Anne, Chiriboga, Claudia, Burnette, W, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry, Finanger, Erika, Cudkowicz, Merit, McGovern, Michelle, McNeil, D, Finkel, Richard, Kaye, Edward, Kingsley, Allison, Renusch, Samantha, McGovern, Vicki, Wang, Xueqian, Zaworski, Phillip, Prior, Thomas, Burghes, Arthur, Bartlett, Amy, Kissel, John, McDonald, Craig

المصدر: Annals of Clinical and Translational Neurology. 3(2)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4mj03777

المؤلفون: Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A, Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.

المساهمون: Department of Pediatrics

المصدر: Drug safety ; 44 ; 10 ; 1109-1119

مصطلحات موضوعية: onasemnogene abeparvovec, spinal muscular atrophy, therapy, drug safety data, Clinical Trials, Patient Safety, Pharmacy and Pharmaceutical Sciences

Relation: Link to Article in PubMed; Day JW, Mendell JR, Mercuri E, Finkel RS, Strauss KA, Kleyn A, Tauscher-Wisniewski S, Tukov FF, Reyna SP, Chand DH. Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy. Drug Saf. 2021 Oct;44(10):1109-1119. doi:10.1007/s40264-021-01107-6. Epub 2021 Aug 12. Erratum in: Drug Saf. 2022 Feb;45(2):191-192. PMID: 34383289; PMCID: PMC8473343. Link to article on publisher's site; 0114-5916 (Linking); http://hdl.handle.net/20.500.14038/42080; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5917&context=oapubs&unstamped=1; https://escholarship.umassmed.edu/oapubs/4883; oapubs/4883

الاتاحة: https://doi.org/10.1007/s40264-021-01107-6
https://hdl.handle.net/20.500.14038/42080
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5917&context=oapubs&unstamped=1
https://escholarship.umassmed.edu/oapubs/4883

المؤلفون: Chand, Deepa H., Mitchell, Susan, Sun, Rui, LaMarca, Nicole, Reyna, Sandra P., Sutter, Thao

المصدر: Pediatric Neurology ; volume 132, page 27-32 ; ISSN 0887-8994

الاتاحة: http://dx.doi.org/10.1016/j.pediatrneurol.2022.05.001
https://api.elsevier.com/content/article/PII:S0887899422000820?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0887899422000820?httpAccept=text/plain

المؤلفون: Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J, Newcomb, Tara M, Reyna, Sandra P, Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L, Brown, Candida, Brunkow, Mary E, Chugani, Harry T, Cheyette, Sarah R, Collins, Abigail, DeBrosse, Suzanne D, Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B, King, Mary D, LaSalle, Bernie, Leventer, Richard J, Lewelt, Aga J, Massart, Mylynda B, Mérida, Mario R, Ptáček, Louis J, Roach, Jared C, Rust, Robert S, Renault, Francis, Sanger, Terry D, Sotero de Menezes, Marcio A, Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J

المصدر: PLOS ONE. 10(8)

مصطلحات موضوعية: Biological Sciences, Health Sciences, Genetics, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8qj2w4n2

المؤلفون: Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.

المصدر: Drug Safety ; volume 45, issue 2, page 191-192 ; ISSN 0114-5916 1179-1942

الاتاحة: https://doi.org/10.1007/s40264-021-01130-7
https://link.springer.com/content/pdf/10.1007/s40264-021-01130-7.pdf
https://link.springer.com/article/10.1007/s40264-021-01130-7/fulltext.html

المؤلفون: Chand, Deepa H., Zaidman, Craig, Arya, Kapil, Millner, Rachel, Farrar, Michelle A., Mackie, Fiona E., Goedeker, Natalie L., Dharnidharka, Vikas R., Dandamudi, Raja, Reyna, Sandra P.

المصدر: The Journal of Pediatrics ; volume 231, page 265-268 ; ISSN 0022-3476

الاتاحة: http://dx.doi.org/10.1016/j.jpeds.2020.11.054
https://api.elsevier.com/content/article/PII:S0022347620314669?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022347620314669?httpAccept=text/plain

المؤلفون: Foster, Richard, Farwell, Wildon, Fradette, Stephanie, Reyna, Sandra P., Bhan, Ishir, Gheuens, Sarah, Johnson, Kristina, Braley, Gabriel, Petrillo, Marco, Stebbins, Christopher, Sandrock, Alfred W., Kerr, Douglas, Staropoli, John F., Shu, Francy, Jong, Yuh-Jyh, Sansone, Valeria A., Ben-Omran, Tawfeg, Topaloglu, Haluk, Butterfield, Russell J., Ryan, Monique M., Parsons, Julie A., Kuntz, Nancy L., Kirschner, Janbernd, Finkel, Richard S., Crawford, Thomas O., Hwu, Wuh-Liang, Swoboda, Kathryn J., Bertini, Enrico, De Vivo, Darryl C.

الاتاحة: https://doi.org/10.1016/j.nmd.2019.09.007
https://avesis.hacettepe.edu.tr/publication/details/f0b2766a-035f-425b-bf7f-684c1389143c/oai

المؤلفون: Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Silver, Kenneth

المصدر: http://knowledge.uchicago.edu/record/9589.

Relation: https://knowledge.uchicago.edu/record/9589/files/journal.pone.0127045.pdf; https://knowledge.uchicago.edu/record/9589/files/pone.0127045.zip; http://knowledge.uchicago.edu/record/9589

الاتاحة: https://doi.org/10.1371/journal.pone.0127045
http://knowledge.uchicago.edu/record/9589

المؤلفون: Hernández-Navarro, Fernando, Gutiérrez-Castañeda, Emmanuel, Torres-Castillo, Alberto, Bedolla-Jacuinde, Arnoldo, Deaquino-Lara, Rogelio, Salinas-Rodríguez, Armando, Rodríguez-Reyna, Sandra, Reyes-Domínguez, Iván

المساهمون: Consejo Nacional de Ciencia y Tecnología

المصدر: MRS Advances ; volume 8, issue 20, page 1123-1128 ; ISSN 2059-8521

الاتاحة: http://dx.doi.org/10.1557/s43580-023-00700-4
https://link.springer.com/content/pdf/10.1557/s43580-023-00700-4.pdf
https://link.springer.com/article/10.1557/s43580-023-00700-4/fulltext.html

المؤلفون: McGrattan, Katlyn, Shell, Richard, Hurst-Davis, Rebecca, Young, Sally Dunaway, Baranello, Giovanni, Lavrov, Arseniy, O’Brien, Eamonn, Wallach, Shiri, LaMarca, Nicole, Reyna, Sandra P., Darras, Basil

المصدر: Neurology ; volume 100, issue 17_supplement_2 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000202522
https://syndication.highwire.org/content/doi/10.1212/WNL.0000000000202522

المؤلفون: Dabbous, Omar, Yang, Min, Georgieva, Mihaela, Toro, Walter, LaMarca, Nicole, Patel, Anish, Anderson, Annika, Akbarnejad, Hanane, Reyna, Sandra P.

المصدر: Neurology ; volume 100, issue 17_supplement_2 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000202541
https://syndication.highwire.org/content/doi/10.1212/WNL.0000000000202541

المؤلفون: Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, Kissel, John T.

المساهمون: NINDS, Cure SMA, Muscular Dystrophy Association, SMA Foundation

المصدر: Contemporary Clinical Trials Communications ; volume 11, page 113-119 ; ISSN 2451-8654

الاتاحة: http://dx.doi.org/10.1016/j.conctc.2018.07.002
https://api.elsevier.com/content/article/PII:S2451865418300243?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2451865418300243?httpAccept=text/plain

المؤلفون: McGrattan, Katlyn E., Shell, Richard D., Hurst-Davis, Rebecca, Young, Sally Dunaway, O'Brien, Eamonn, Lavrov, Arseniy, Wallach, Shiri, LaMarca, Nicole, Reyna, Sandra P., Darras, Basil T.

المصدر: Journal of Neuromuscular Diseases; 2023, Vol. 10 Issue 4, p531-540, 10p

المؤلفون: Lally, Cathy, Jones, Cynthia, Farwell, Wildon, Reyna, Sandra P., Cook, Suzanne F., Flanders, W. Dana

المساهمون: Biogen

المصدر: Orphanet Journal of Rare Diseases ; volume 12, issue 1 ; ISSN 1750-1172

الاتاحة: http://dx.doi.org/10.1186/s13023-017-0724-z
http://link.springer.com/content/pdf/10.1186/s13023-017-0724-z.pdf