Search: onr:"swepub:oai:DiVA.org:umu-201947" >
Whole genome sequen...
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Tazelaar, Gijs H.P.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
- Article/chapterEnglish2023
Publisher, publication year, extent ...
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Elsevier,2023
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-201947
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-201947URI
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https://doi.org/10.1016/j.neurobiolaging.2022.11.010DOI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases also by cognitive and/or behavioral changes. Mendelian forms of ALS comprise approximately 10-15% of cases. The majority is however considered sporadic, but also with a high contribution of genetic risk factors. To explore the contribution of somatic mutations and/or epigenetic changes to disease risk, we performed whole genome sequencing and methylation analyses using samples from multiple tissues on a cohort of 26 monozygotic twins discordant for ALS, followed by in-depth validation and replication experiments. The results of these analyses implicate several mechanisms in ALS pathophysiology, which include a role for de novo mutations, defects in DNA damage repair and accelerated aging.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Hop, Paul J.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Seelen, MeinieDepartment of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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van Vugt, Joke J.F.A.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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van Rheenen, WouterDepartment of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Kool, LindyDepartment of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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van Eijk, Kristel R.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Gijzen, MarleenDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Dooijes, DennisDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Moisse, MatthieuNeurology Department University Hospitals Leuven, Department of Neurosciences and Leuven Brain Institute (LBI) KU Leuven—University of Leuven, Leuven, Belgium; VIB, Center for Brain & Disease Research, Leuven, Belgium
(author)
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Calvo, AndreaALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy
(author)
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Moglia, CristinaALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy
(author)
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Brunetti, MauraALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy
(author)
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Canosa, AntonioALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy
(author)
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Nordin, AngelicaUmeå universitet,Neurovetenskaper(Swepub:umu)acaoln03
(author)
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Pardina, Jesus S. MoraALS Unit, Hospital San Rafael, Madrid, Spain
(author)
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Ravits, JohnDepartment of Neurosciences, University of California at San Diego, CA, La Jolla, United States
(author)
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Al-Chalabi, AmmarDepartment of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute and United Kingdom Dementia Research Institute, King's College London, London, United Kingdom; Department of Neurology, King's College Hospital, London, United Kingdom
(author)
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Chio, AdrianoALS Centre, “Rita Levi Montalcini” Department of Neuroscience, University of Turin, Turin, Italy; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, SC Neurologia 1U, Turin, Italy; Neuroscience Institute of Turin (NIT), Turin, Italy
(author)
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McLaughlin, Russell L.Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
(author)
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Hardiman, OrlaAcademic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland
(author)
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Van Damme, PhilipNeurology Department University Hospitals Leuven, Department of Neurosciences and Leuven Brain Institute (LBI) KU Leuven—University of Leuven, Leuven, Belgium; VIB, Center for Brain & Disease Research, Leuven, Belgium
(author)
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de Carvalho, MamedeDepartment of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
(author)
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Neuwirth, ChristophNeuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland
(author)
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Weber, MarkusNeuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland
(author)
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Andersen, Peter M.,1962-Umeå universitet,Neurovetenskaper(Swepub:umu)pean0001
(author)
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van den Berg, Leonard H.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Veldink, Jan H.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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van Es, Michael A.Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
(author)
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Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
(creator_code:org_t)
Related titles
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In:Neurobiology of Aging: Elsevier122, s. 76-870197-45801558-1497
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Tazelaar, Gijs H ...
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Hop, Paul J.
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Seelen, Meinie
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van Vugt, Joke J ...
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van Rheenen, Wou ...
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Kool, Lindy
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van Eijk, Kriste ...
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Gijzen, Marleen
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Dooijes, Dennis
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Moisse, Matthieu
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Calvo, Andrea
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Moglia, Cristina
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Brunetti, Maura
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Canosa, Antonio
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Nordin, Angelica
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Pardina, Jesus S ...
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Ravits, John
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Al-Chalabi, Amma ...
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Chio, Adriano
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McLaughlin, Russ ...
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Hardiman, Orla
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Van Damme, Phili ...
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de Carvalho, Mam ...
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Neuwirth, Christ ...
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Weber, Markus
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Andersen, Peter ...
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van den Berg, Le ...
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Veldink, Jan H.
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van Es, Michael ...
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