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| Verfasst von: | Opie-Martin, Sarah [VerfasserIn]  |
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| | Iacoangeli, Alfredo [VerfasserIn] |
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| | Topp, Simon D. [VerfasserIn] |
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| | Abel, Olubunmi [VerfasserIn] |
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| | Mayl, Keith [VerfasserIn] |
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| | Mehta, Puja R. [VerfasserIn] |
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| | Shatunov, Aleksey [VerfasserIn] |
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| | Fogh, Isabella [VerfasserIn] |
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| | Bowles, Harry [VerfasserIn] |
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| | Limbachiya, Naomi [VerfasserIn] |
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| | Spargo, Thomas P. [VerfasserIn] |
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| | Al-Khleifat, Ahmad [VerfasserIn] |
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| | Williams, Kelly L. [VerfasserIn] |
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| | Jockel-Balsarotti, Jennifer [VerfasserIn] |
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| | Bali, Taha [VerfasserIn] |
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| | Self, Wade [VerfasserIn] |
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| | Henden, Lyndal [VerfasserIn] |
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| | Nicholson, Garth A. [VerfasserIn] |
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| | Ticozzi, Nicola [VerfasserIn] |
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| | McKenna-Yasek, Diane [VerfasserIn] |
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| | Tang, Lu [VerfasserIn] |
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| | Shaw, Pamela J. [VerfasserIn] |
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| | Chio, Adriano [VerfasserIn] |
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| | Ludolph, Albert C. [VerfasserIn] |
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| | Weishaupt, Jochen H. [VerfasserIn] |
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| | Landers, John E. [VerfasserIn] |
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| | Glass, Jonathan D. [VerfasserIn] |
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| | Mora, Jesus S. [VerfasserIn] |
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| | Robberecht, Wim [VerfasserIn] |
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| | Damme, Philip Van [VerfasserIn] |
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| | McLaughlin, Russell [VerfasserIn] |
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| | Hardiman, Orla [VerfasserIn] |
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| | van den Berg, Leonard [VerfasserIn] |
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| | Veldink, Jan H. [VerfasserIn] |
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| | Corcia, Phillippe [VerfasserIn] |
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| | Stevic, Zorica [VerfasserIn] |
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| | Siddique, Nailah [VerfasserIn] |
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| | Silani, Vincenzo [VerfasserIn] |
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| | Blair, Ian P. [VerfasserIn] |
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| | Fan, Dong-sheng [VerfasserIn] |
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| | Esselin, Florence [VerfasserIn] |
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| | de la Cruz, Elisa [VerfasserIn] |
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| | Camu, William [VerfasserIn] |
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| | Basak, Nazli A. [VerfasserIn] |
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| | Siddique, Teepu [VerfasserIn] |
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| | Miller, Timothy [VerfasserIn] |
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| | Brown, Robert H. [VerfasserIn] |
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| | Al-Chalabi, Ammar [VerfasserIn] |
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| | Shaw, Christopher E. [VerfasserIn] |
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| Titel: | The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration |
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| Verf.angabe: | Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi and Christopher E. Shaw |
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| E-Jahr: | 2022 |
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| Jahr: | 12 November 2022 |
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| Umfang: | 9 S. |
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| Fussnoten: | Gesehen am 24.07.2023 |
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| Titel Quelle: | Enthalten in: Nature Communications |
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| Ort Quelle: | [London] : Springer Nature, 2010 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 13(2022), Artikel-ID 6901, Seite 1-9 |
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| ISSN Quelle: | 2041-1723 |
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| Abstract: | Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some of which are associated with a distinct phenotype. Most studies assess limited variants or sample sizes. In this international, retrospective observational study, we compare phenotypic and demographic characteristics between people with SOD1-ALS and people with ALS and no recorded SOD1 variant. We investigate which variants are associated with age at symptom onset and time from onset to death or censoring using Cox proportional-hazards regression. The SOD1-ALS dataset reports age of onset for 1122 and disease duration for 883 people; the comparator population includes 10,214 and 9010 people respectively. Eight variants are associated with younger age of onset and distinct survival trajectories; a further eight associated with younger onset only and one with distinct survival only. Here we show that onset and survival are decoupled in SOD1-ALS. Future research should characterise rarer variants and molecular mechanisms causing the observed variability. |
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| DOI: | doi:10.1038/s41467-022-34620-y |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1038/s41467-022-34620-y |
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| | kostenfrei: Volltext: http://www.nature.com/articles/s41467-022-34620-y |
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| | DOI: https://doi.org/10.1038/s41467-022-34620-y |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Medical genetics |
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| K10plus-PPN: | 1853470147 |
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| Verknüpfungen: | → Zeitschrift |
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¬The¬ SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration / Opie-Martin, Sarah [VerfasserIn]; 12 November 2022 (Online-Ressource)
