-
1دورية أكاديمية
المؤلفون: Quinn, Colin, Baer, Michael, Amado, Defne A., Kelley, Mary, Elman, Lauren
المصدر: Muscle & Nerve ; ISSN 0148-639X 1097-4598
-
2
المؤلفون: Shen, Ting, Vogel, Jacob W., Duda, Jeffrey, Phillips, Jeffrey S., Cook, Philip A., Gee, James, Elman, Lauren, Quinn, Colin, Amado, Defne A., Baer, Michael, Massimo, Lauren, Grossman, Murray, Irwin, David J., McMillan, Corey T.
المصدر: Translational Neurodegeneration MultiPark: Multidisciplinary research focused on Parkinson´s disease. 12(1)
مصطلحات موضوعية: Amyotrophic lateral sclerosis, Disease heterogeneity, Frontotemporal degeneration, SuStaIn model, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medical and Health Sciences, Basic Medicine, Neurosciences
الوصول الحر: https://lup.lub.lu.se/record/6e4f79fd-da7f-41d6-96e2-e15e2d98f711Test
http://dx.doi.org/10.1186/s40035-023-00389-3Test -
3دورية أكاديميةMapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching
المؤلفون: Dawicki-McKenna, Jennine M., Felix, Alex J., Waxman, Elisa A., Cheng, Congsheng, Amado, Defne A., Ranum, Paul T., Bogush, Alexey, Dungan, Lea V., Maguire, Jean Ann, Gagne, Alyssa L., Heller, Elizabeth A., French, Deborah L., Davidson, Beverly L., Prosser, Benjamin L.
المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke
المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-023-38273-3Test
https://www.nature.com/articles/s41467-023-38273-3.pdfTest
https://www.nature.com/articles/s41467-023-38273-3Test -
4دورية أكاديمية
المؤلفون: Shellikeri, Sanjana, Cho, Sunghye, Ash, Sharon, Gonzalez-Recober, Carmen, Mcmillan, Corey T., Elman, Lauren, Quinn, Colin, Amado, Defne A., Baer, Michael, Irwin, David J., Massimo, Lauren, Olm, Christopher A., Liberman, Mark Y., Grossman, Murray, Nevler, Naomi
المصدر: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; May2024, Vol. 25 Issue 3/4, p317-325, 9p
مصطلحات موضوعية: SPEECH, CEREBRAL cortical thinning, FRONTOTEMPORAL dementia, MOTOR cortex, FRONTOTEMPORAL lobar degeneration, VOWELS
-
5دورية أكاديمية
المؤلفون: Baldwin, Aaron, Copeland, Juliette, Azage, Meron, Dratch, Laynie, Johnson, Kelsey, Paul, Rachel A., Amado, Defne A., Baer, Michael, Deik, Andres, Elman, Lauren B., Guo, Michael, Hamedani, Ali G., Irwin, David J., Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin C., Tropea, Thomas F., Scherer, Steven S., Shinohara, Russell T., Hamilton, Roy H., Ellis, Colin A.
المصدر: Neurology ; volume 102, issue 6 ; ISSN 0028-3878 1526-632X
-
6دورية أكاديمية
المؤلفون: Rhodes, Emma, Alfa, Sebleh, Jin, Hannah A., Massimo, Lauren, Elman, Lauren, Amado, Defne, Baer, Michael, Quinn, Colin, McMillan, Corey T.
المساهمون: National Institute on Aging
المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ; page 1-10 ; ISSN 2167-8421 2167-9223
-
7دورية أكاديمية
المؤلفون: Dratch, Laynie, Azage, Meron, Baldwin, Aaron, Johnson, Kelsey, Paul, Rachel A., Bardakjian, Tanya M., Michon, Sara-Claude, Amado, Defne A., Baer, Michael, Deik, Andres F., Elman, Lauren B., Gonzalez-Alegre, Pedro, Guo, Michael H., Hamedani, Ali G., Irwin, David J., Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin, Tropea, Thomas F., Scherer, Steven S.
المصدر: Journal of Neurology; Feb2024, Vol. 271 Issue 2, p733-747, 15p
مصطلحات موضوعية: GENETIC testing, GENETIC transformation, GENETIC disorder diagnosis, NEUROLOGICAL disorders, ADULTS, SCIENTIFIC community
-
8دورية أكاديمية
المؤلفون: Dratch, Laynie, Bardakjian, Tanya M., Johnson, Kelsey, Babaian, Nareen, Gonzalez-Alegre, Pedro, Elman, Lauren, Quinn, Colin, Guo, Michael H., Scherer, Steven S., Amado, Defne A.
المصدر: Biology (2079-7737); Feb2024, Vol. 13 Issue 2, p93, 12p
مصطلحات موضوعية: NEUROMUSCULAR diseases, GENETIC testing, ADULTS, GENETIC disorder diagnosis, CEREBELLAR ataxia, NUCLEOTIDE sequencing
-
9دورية أكاديمية
المؤلفون: Amado, Defne A., Davidson, Beverly L.
المصدر: Molecular Therapy ; volume 29, issue 12, page 3345-3358 ; ISSN 1525-0016
الإتاحة: https://doi.org/10.1016/j.ymthe.2021.04.008Test
https://api.elsevier.com/content/article/PII:S1525001621001957?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525001621001957?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Dratch, Laynie, Azage, Meron, Baldwin, Aaron, Johnson, Kelsey, Paul, Rachel A., Bardakjian, Tanya M., Michon, Sara-Claude, Amado, Defne A., Baer, Michael, Deik, Andres F., Elman, Lauren B., Gonzalez-Alegre, Pedro, Guo, Michael H., Hamedani, Ali G., Irwin, David J., Lasker, Aaron, Orthmann-Murphy, Jennifer, Quinn, Colin, Tropea, Thomas F., Scherer, Steven S., Ellis, Colin A.
المساهمون: National Institute of Neurological Disorders and Stroke
المصدر: Journal of Neurology ; volume 271, issue 2, page 733-747 ; ISSN 0340-5354 1432-1459
مصطلحات موضوعية: Neurology (clinical), Neurology