المؤلفون: Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar, Shaw, Christopher E

المساهمون: Neurology

المصدر: Nature communications ; 13 ; 1 ; 6901 ; United States ; United Kingdom ; England

مصطلحات موضوعية: Medical genetics

العلاقة: Nature Communications; https://doi.org/10.1038/s41467-022-34620-yTest; Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration. Nat Commun. 2022 Nov 12;13(1):6901. doi:10.1038/s41467-022-34620-y. PMID: 36371497; PMCID: PMC9653399.; http://hdl.handle.net/20.500.14038/53237Test

الإتاحة: https://doi.org/10.1038/s41467-022-34620-yTest
https://doi.org/20.500.14038/53237Test
https://hdl.handle.net/20.500.14038/53237Test

المؤلفون: Ly, Cindy V., Ireland, Margaret D., Self, Wade K., Bollinger, James, Jockel‐Balsarotti, Jennifer, Herzog, Hillary, Allred, Peggy, Miller, Leah, Doyle, Michael, Anez‐Bruzual, Isabel, Trikamji, Bhavesh, Hyman, Ted, Kung, Tyler, Nicholson, Katherine, Bucelli, Robert C., Patterson, Bruce W., Bateman, Randall J., Miller, Timothy M.

المساهمون: National Institutes of Health

المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 6, page 1012-1024 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.51784Test

المؤلفون: Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar, Shaw, Christopher E

المساهمون: Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-Sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar, Shaw, Christopher E

مصطلحات موضوعية: Human, Superoxide Dismutase-1, Superoxide Dismutase, Phenotype, Mutation, Amyotrophic Lateral Sclerosis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36371497; volume:13; issue:1; firstpage:6901; lastpage:6909; numberofpages:9; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/2318/1880711Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85141683796

الإتاحة: https://doi.org/10.1038/s41467-022-34620-yTest
https://hdl.handle.net/2318/1880711Test

المؤلفون: Kalia, Munishikha, Miotto, Mattia, Ness, Deborah, Opie-Martin, Sarah, Spargo, Thomas P, Di Rienzo, Lorenzo, Biagini, Tommaso, Petrizzelli, Francesco, Al-Khleifat, Ahmad, Kabiljo, Renata, Topp, Simon, Mayl, Keith, Fogh, Isabella, Mehta, Puja R, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Van Damme, Philip, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard H, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Ratti, Antonia, Silani, Vincenzo, Blair, Ian P, Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, A Nazli, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Andersen, Peter M, Shaw, Christopher E, Mazza, Tommaso, Ruocco, Giancarlo, Milanetti, Edoardo, Dobson, Richard JB, Al-Chalabi, Ammar, Iacoangeli, Alfredo

المساهمون: Neurology

المصدر: bioRxiv

مصطلحات موضوعية: Neuroscience, mutations, ALS

العلاقة: bioRxiv; https://doi.org/10.1101/2022.12.05.519128Test; http://hdl.handle.net/20.500.14038/51566Test

الإتاحة: https://doi.org/10.1101/2022.12.05.519128Test
https://doi.org/20.500.14038/51566Test
https://hdl.handle.net/20.500.14038/51566Test

المؤلفون: Bali, Taha, Self, Wade, Liu, Jingxia, Siddique, Teepu, Wang, Leo H, Bird, Thomas D, Ratti, Elena, Atassi, Nazem, Boylan, Kevin B, Glass, Jonathan D, Maragakis, Nicholas J, Caress, James B, McCluskey, Leo F, Appel, Stanley H, Wymer, James P, Gibson, Summer, Zinman, Lorne, Mozaffar, Tahseen, Callaghan, Brian, McVey, April L, Jockel-Balsarotti, Jennifer, Allred, Peggy, Fisher, Elena R, Lopate, Glenn, Pestronk, Alan, Cudkowicz, Merit E, Miller, Timothy M

المصدر: Journal of Neurology Neurosurgery & Psychiatry. 88(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Neurosciences, ALS, Rare Diseases, Clinical Research, Neurodegenerative, Clinical Trials and Supportive Activities, Adult, Age of Onset, Amyotrophic Lateral Sclerosis, Clinical Trials as Topic, Disease Progression, Humans, Middle Aged, Mutation, Research Design, Retrospective Studies, Superoxide Dismutase, Vital Capacity, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0k87d0jhTest

المؤلفون: Kerman, Bilal E., Self, Wade, Yassine, Hussein N.

المصدر: Current Opinion in Clinical Nutrition & Metabolic Care; Mar2024, Vol. 27 Issue 2, p116-124, 9p

المؤلفون: Self, Wade, Awwad, Khader, Savaryn, John Paul, Schulz, Michael

المصدر: http://lobid.org/resources/990155701200206441Test#!, 17(6):e0269157.

مصطلحات موضوعية: Biomarkers, Signal peptides, Tau protein, Liquid chromatography-mass spectrometry, Recombinant proteins, Alzheimer's disease, Cerebrospinal fluid, Antibody therapy

العلاقة: https://repository.publisso.de/resource/frl:6452913Test; https://doi.org/10.1371/journal.pone.0269157Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162344Test/; https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0269157#sec031Test

الإتاحة: https://doi.org/10.1371/journal.pone.0269157Test
https://repository.publisso.de/resource/frl:6452913Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162344Test/
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0269157#sec031Test

المؤلفون: YASSINE, Hussein N., SELF, Wade, KERMAN, Bilal E., SANTONI, Giulia, NAVALPUR SHANMUGAM, NandaKumar, ABDULLAH, Laila, GOLDEN, Lesley R., FONTEH, Alfred N., HARRINGTON, Michael G., GRAFF, Johannes, GIBSON, Gary E., KALARIA, Raj, LUCHSINGER, Jose A., FELDMAN, Howard H., SWERDLOW, Russell H., JOHNSON, Lance A., ALBENSI, Benedict C., ZLOKOVIC, Berislav V., TANZI, Rudolph, CUNNANE, Stephen, SAMIERI, Cecilia, SCARMEAS, Nikolaos, BOWMAN, Gene L.

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Santé publique et épidémiologie

العلاقة: 1552-5279 (Electronic) 1552-5260 (Linking); https://oskar-bordeaux.fr/handle/20.500.12278/171995Test

الإتاحة: https://doi.org/20.500.12278/171995Test
https://doi.org/10.1002/alz.12845Test
https://oskar-bordeaux.fr/handle/20.500.12278/171995Test
https://hdl.handle.net/20.500.12278/171995Test

المؤلفون: Yassine, Hussein N., Self, Wade, Kerman, Bilal E., Santoni, Giulia, Shanmugam, NandaKumar Navalpur, Abdullah, Laila, Golden, Lesley R., Fonteh, Alfred N., Harrington, Michael G., Graff, Johannes, Gibson, Gary E., Kalaria, Raj, Luchsinger, Jose A., Feldman, Howard H., Swerdlow, Russell H., Johnson, Lance A., Albensi, Benedict C., Zlokovic, Berislav V., Tanzi, Rudolph, Cunnane, Stephen, Samieri, Cecilia, Scarmeas, Nikolaos, Bowman, Gene L.

المصدر: http://infoscience.epfl.ch/record/299364Test.

العلاقة: http://infoscience.epfl.ch/record/299364Test; isi:000894162300001

الإتاحة: https://doi.org/10.1002/alz.12845Test
http://infoscience.epfl.ch/record/299364Test

المؤلفون: Self, Wade K., Holtzman, David M.

المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke, U.S. Department of Health & Human Services | NIH | National Institute on Aging, Cure Alzheimer’s Fund, JPB Foundation

المصدر: Nature Medicine ; volume 29, issue 9, page 2187-2199 ; ISSN 1078-8956 1546-170X

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1038/s41591-023-02505-2Test
https://www.nature.com/articles/s41591-023-02505-2.pdfTest
https://www.nature.com/articles/s41591-023-02505-2Test