المؤلفون: Cappelli, Sara, Spalloni, Alida, Feiguin, Fabian, Visani, Giulia, Šušnjar, Urša, Brown, Anna-Leigh, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R, Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B, Van Deerlin, Vivianna M, Shneider, Neil A, Fraenkel, Ernest, Ostrow, Lyle W, Baas, Frank, Zaitlen, Noah, Berry, James D, Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A, Thompson, Leslie M, Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M, Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J, Heiman-Patterson, Terry, Hammell, Molly G, Patsopoulos, Nikolaos A, Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J, Adams, Darius J, Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, De Bardi, Marco, Borsellino, Giovanna, Secrier, Maria, Romano, Maurizio, Longone, Patrizia, Buratti, Emanuele

المصدر: Brain Communications. 4(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Biotechnology, Genetics, Aetiology, 2.1 Biological and endogenous factors, NYGC ALS Consortium, ALS, CAPON/NOS1AP, RNA stability, TDP-43, hnRNPs, Clinical sciences, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0wz017kwTest

المؤلفون: Consortium, The NeuroLINCS, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R, Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B, Van Deerlin, Vivianna M, Shneider, Neil A, Fraenkel, Ernest, Ostrow, Lyle W, Baas, Frank, Zaitlen, Noah, Berry, James D, Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A, Thompson, Leslie M, Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M, Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J, Heiman-Patterson, Terry, Hammell, Molly G, Patsopoulos, Nikolaos A, Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J, Adams, Darius J, Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Li, Jonathan, Lim, Ryan G, Kaye, Julia A, Dardov, Victoria, Coyne, Alyssa N, Wu, Jie, Milani, Pamela, Cheng, Andrew, Thompson, Terri G, Ornelas, Loren, Frank, Aaron, Adam, Miriam, Banuelos, Maria G, Casale, Malcolm, Cox, Veerle, Escalante-Chong, Renan, Daigle, J Gavin, Gomez, Emilda, Hayes, Lindsey, Holewenski, Ronald, Lei, Susan, Lenail, Alex, Lima, Leandro, Mandefro, Berhan, Matlock, Andrea, Panther, Lindsay, Patel-Murray, Natasha Leanna, Pham, Jacqueline, Ramamoorthy, Divya, Sachs, Karen, Shelley, Brandon, Stocksdale, Jennifer, Trost, Hannah, Wilhelm, Mark, Venkatraman, Vidya, Wassie, Brook T, Wyman, Stacia, Yang, Stephanie, Consortium, NYGC ALS, Van Eyk, Jennifer E, Lloyd, Thomas E, Finkbeiner, Steven

المصدر: iScience. 24(11)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Neurodegenerative, Clinical Research, ALS, Stem Cell Research, Rare Diseases, Acquired Cognitive Impairment, Stem Cell Research - Induced Pluripotent Stem Cell, Brain Disorders, Neurosciences, Dementia, Stem Cell Research - Induced Pluripotent Stem Cell - Human, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, NeuroLINCS Consortium, NYGC ALS Consortium, Biological sciences, Neuroscience, Omics, Systems biology, Systems neuroscience

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7380047kTest

المؤلفون: Rutledge, Mark T., Russo, Mariano, Belton, Jon-Matthew, Dekker, Job, Broach, James R.

المساهمون: Department of Biochemistry and Molecular Pharmacology, Program in Systems Biology

المصدر: Nucleic acids research

مصطلحات موضوعية: Biochemistry, Genetics, Genomics, Molecular Biology, Structural Biology, Systems Biology

العلاقة: Link to Article in PubMed; Nucleic Acids Res. 2015 Jul 21. pii: gkv723. doi:10.1093/nar/gkv723. [Epub ahead of print] Link to article on publisher's site; 0305-1048 (Linking); http://hdl.handle.net/20.500.14038/49945Test; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1064&context=sysbio_pubs&unstamped=1Test; https://escholarship.umassmed.edu/sysbio_pubs/65Test; 7456789; sysbio_pubs/65

الإتاحة: https://doi.org/10.1093/nar/gkv723Test
https://doi.org/20.500.14038/49945Test
https://hdl.handle.net/20.500.14038/49945Test
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=1064&context=sysbio_pubs&unstamped=1Test
https://escholarship.umassmed.edu/sysbio_pubs/65Test

المؤلفون: Movassagh, Mercedeh, Morton, Sarah U., Hehnly, Christine, Smith, Jasmine, Doan, Trang T., Irizarry, Rafael, Broach, James R., Schiff, Steven J., Bailey, Jeffrey A., Paulson, Joseph N.

المساهمون: NIH Office of the Director

المصدر: BMC Genomics ; volume 23, issue 1 ; ISSN 1471-2164

مصطلحات موضوعية: Genetics, Biotechnology

الإتاحة: https://doi.org/10.1186/s12864-022-08558-wTest

المؤلفون: Bi, Xin, Braunstein, Miriam, Shei, Gan-Ju, Broach, James R.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1999 Oct 01. 96(21), 11934-11939.

الوصول الحر: https://www.jstor.org/stable/48913Test

المؤلفون: Coble, Joel L., Sheldon, Kathryn E., Yue, Feng, Salameh, Tarik J., Harris, III, Leonard R., Deiling, Sue, Ruggiero, Francesca M., Eshelman, Melanie A., Yochum, Gregory S., Koltun, Walter A., Gerhard, Glenn S., Broach, James R.

المصدر: Human Molecular Genetics ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddx204Test
http://academic.oup.com/hmg/article-pdf/26/16/3212/19282450/ddx204.pdfTest

المؤلفون: Brown, Anna-Leigh, Wilkins, Oscar G., Keuss, Matthew J., Hill, Sarah E., Zanovello, Matteo, Lee, Weaverly Colleen, Bampton, Alexander, Lee, Flora C. Y., Masino, Laura, Qi, Yue A., Bryce-Smith, Sam, Gatt, Ariana, Hallegger, Martina, Fagegaltier, Delphine, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Shneider, Neil A., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos. A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matthew, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H., Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Lerner, Yossef, Sattler, Rita, Van Keuren-Jensen, Kendall, Rozenblatt-Rosen, Orit, Lindblad-Toh, Kerstin, Nicholson, Katharine, Gregersen, Peter, Lee, Jeong-Ho, Kokos, Sulev, Muljo, Stephen, Newcombe, Jia, Gustavsson, Emil K., Seddighi, Sahba, Reyes, Joel F., Coon, Steven L., Ramos, Daniel, Schiavo, Giampietro, Fisher, Elizabeth M. C., Secrier, Maria, Lashley, Tammaryn, Ule, Jernej, Buratti, Emanuele, Humphrey, Jack, Ward, Michael E.

المساهمون: Human Genetics, ARD - Amsterdam Reproduction and Development, Pathology, ANS - Cellular & Molecular Mechanisms

المصدر: Nature, 603(7899), 131-137. Nature Publishing Group
Nature, vol 603, iss 7899
NYGC ALS Consortium 2022, ' TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A ', Nature, vol. 603, no. 7899, pp. 131-137 . https://doi.org/10.1038/s41586-022-04436-3Test
Nature, 603(7899), 131-+. NATURE PORTFOLIO

مصطلحات موضوعية: General Science & Technology, Gene Expression, Nerve Tissue Proteins, Neurodegenerative, Biochemistry & Proteomics, Rare Diseases, Ecology,Evolution & Ethology, Clinical Research, mental disorders, Acquired Cognitive Impairment, Genetics, Humans, 2.1 Biological and endogenous factors, Polymorphism, Aetiology, Codon, Medicinsk genetik, NYGC ALS Consortium, Computational & Systems Biology, Chemical Biology & High Throughput, Multidisciplinary, Prevention, FOS: Clinical medicine, Stem Cells, Amyotrophic Lateral Sclerosis, Neurosciences, nutritional and metabolic diseases, Single Nucleotide, Brain Disorders, nervous system diseases, DNA-Binding Proteins, Alternative Splicing, Nonsense, TDP-43 Proteinopathies, Frontotemporal Dementia, Neurological, Dementia, ALS, Medical Genetics, Genetics & Genomics, Neurovetenskaper, Structural Biology & Biophysics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a25848cce9d1ba10e3d3a48fd3e242Test

المؤلفون: Elfving, Nils, Chereji, Răzvan V., Bharatula, Vasudha, Björklund, Stefan, Morozov, Alexandre V., Broach, James R.

المصدر: Nucleic Acids Research ; volume 42, issue 9, page 5468-5482 ; ISSN 1362-4962 0305-1048

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gku176Test
http://academic.oup.com/nar/article-pdf/42/9/5468/14122644/gku176.pdfTest

المؤلفون: Hopper, James E., Broach, James R., Rowe, Lucy B.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1978 Jun 01. 75(6), 2878-2882.

الوصول الحر: https://www.jstor.org/stable/68347Test

المؤلفون: McClean, Megan N, Mody, Areez, Broach, James R, Ramanathan, Sharad

المصدر: Nature Genetics ; volume 39, issue 4, page 567-567 ; ISSN 1061-4036 1546-1718

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1038/ng0407-567bTest
http://www.nature.com/articles/ng0407-567b.pdfTest
http://www.nature.com/articles/ng0407-567bTest