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1دورية أكاديميةThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
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 -
2دورية أكاديمية
المؤلفون: Thumbadoo, Kyrah M, Dieriks, Birger V, Murray, Helen C, Swanson, Molly E V, Yoo, Ji Hun, Mehrabi, Nasim F, Turner, Clinton, Dragunow, Michael, Faull, Richard L M, Curtis, Maurice A, Siddique, Teepu, Shaw, Christopher E, Newell, Kathy L, Henden, Lyndal, Williams, Kelly L, Nicholson, Garth A, Scotter, Emma L
المصدر: Brain ; ISSN 0006-8950 1460-2156
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3دورية أكاديميةThe SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
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
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4دورية أكاديمية
المؤلفون: Wu, Josephine J., Cai, Ashley, Greenslade, Jessie E., Higgins, Nicole R., Fan, Cong, Le, Nhat T. T., Tatman, Micaela, Whiteley, Alexandra M., Prado, Miguel A., Dieriks, Birger V., Curtis, Maurice A., Shaw, Christopher E., Siddique, Teepu, Faull, Richard L. M., Scotter, Emma L., Finley, Daniel, Monteiro, Mervyn J.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2020 Jun . 117(26), 15230-15241.
الوصول الحر: https://www.jstor.org/stable/26935073Test
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5تقرير
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 -
6دورية أكاديمية
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
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7دورية أكاديمية
المؤلفون: Lee, Sebum, Shang, Yulei, Redmond, Stephanie A, Urisman, Anatoly, Tang, Amy A, Li, Kathy H, Burlingame, Alma L, Pak, Ryan A, Jovičić, Ana, Gitler, Aaron D, Wang, Jinhua, Gray, Nathanael S, Seeley, William W, Siddique, Teepu, Bigio, Eileen H, Lee, Virginia M-Y, Trojanowski, John Q, Chan, Jonah R, Huang, Eric J
المصدر: Neuron. 91(1)
مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, ALS, Rare Diseases, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Animals, Biomarkers, Carrier Proteins, Cell Death, DNA-Binding Proteins, Disease Models, Animal, Endoplasmic Reticulum, Mice, Transgenic, Motor Neurons, Neuroglia, Protein Serine-Threonine Kinases, Spinal Cord, Superoxide Dismutase, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/98t7g7j0Test
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8دورية أكاديمية
المؤلفون: Deng, Han-Xiang, Zhai, Hong, Shi, Yong, Liu, Guoxiang, Lowry, Jessica, Liu, Bin, Ryan, Éanna B., Yan, Jianhua, Yang, Yi, Zhang, Nigel, Yang, Zhihua, Liu, Erdong, Ma, Yongchao C., Siddique, Teepu
المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke
المصدر: Communications Biology ; volume 4, issue 1 ; ISSN 2399-3642
مصطلحات موضوعية: General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology, Medicine (miscellaneous)
الإتاحة: https://doi.org/10.1038/s42003-021-01942-4Test
https://www.nature.com/articles/s42003-021-01942-4.pdfTest
https://www.nature.com/articles/s42003-021-01942-4Test -
9دورية أكاديمية
المؤلفون: Ryan, Éanna B., Yan, Jianhua, Miller, Nimrod, Dayanidhi, Sudarshan, Ma, Yongchao C., Deng, Han-Xiang, Siddique, Teepu
المساهمون: Les Turner ALS Foundation, National Institute of Neurological Disorders and Stroke
المصدر: iScience ; volume 24, issue 2, page 102061 ; ISSN 2589-0042
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1016/j.isci.2021.102061Test
https://api.elsevier.com/content/article/PII:S2589004221000298?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2589004221000298?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Coppens, Sandra, Barnard, Alison M., Puusepp, Sanna, Pajusalu, Sander, Õunap, Katrin, Vargas-Franco, Dorianmarie, Bruels, Christine C., Donkervoort, Sandra, Pais, Lynn, Chao, Katherine R., Goodrich, Julia K., England, Eleina M., Weisburd, Ben, Ganesh, Vijay S., Gudmundsson, Sanna, O’Donnell-Luria, Anne, Nigul, Mait, Ilves, Pilvi, Mohassel, Payam, Siddique, Teepu, Milone, Margherita, Nicolau, Stefan, Maroofian, Reza, Houlden, Henry, Hanna, Michael G., Quinlivan, Ros, Toosi, Mehran Beiraghi, Karimiani, Ehsan Ghayoor, Costagliola, Sabine, Deconinck, Nicolas, Kadhim, Hazim, Macke, Erica, Lanpher, Brendan C., Klee, Eric W., Łusakowska, Anna, Kostera-Pruszczyk, Anna, Hahn, Andreas, Schrank, Bertold, Nishino, Ichizo, Ogasawara, Masashi, El Sherif, Rasha, Stojkovic, Tanya, Nelson, Isabelle, Bonne, Gisèle, Cohen, Enzo, Boland-Augé, Anne, Deleuze, Jean-François, Meng, Yao, Töpf, Ana, Vilain, Catheline
المصدر: The American Journal of Human Genetics ; volume 108, issue 6, page 1164 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.04.018Test
https://api.elsevier.com/content/article/PII:S000292972100149X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972100149X?httpAccept=text/plainTest
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