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Whole genome sequen...
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis
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- Tazelaar, Gijs H.P. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- Hop, Paul J. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- Seelen, Meinie (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- van Vugt, Joke J.F.A. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- van Rheenen, Wouter (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- Kool, Lindy (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- van Eijk, Kristel R. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- Gijzen, Marleen (författare)
- Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
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- Dooijes, Dennis (författare)
- Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
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- Moisse, Matthieu (författare)
- Neurology 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
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- Calvo, Andrea (författare)
- ALS 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
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- Moglia, Cristina (författare)
- ALS 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
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- Brunetti, Maura (författare)
- ALS 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
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- Canosa, Antonio (författare)
- ALS 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
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- Nordin, Angelica (författare)
- Umeå universitet,Neurovetenskaper
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- Pardina, Jesus S. Mora (författare)
- ALS Unit, Hospital San Rafael, Madrid, Spain
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- Ravits, John (författare)
- Department of Neurosciences, University of California at San Diego, CA, La Jolla, United States
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- Al-Chalabi, Ammar (författare)
- Department 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
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- Chio, Adriano (författare)
- ALS 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
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- McLaughlin, Russell L. (författare)
- Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
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- Hardiman, Orla (författare)
- Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland
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- Van Damme, Philip (författare)
- Neurology 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
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- de Carvalho, Mamede (författare)
- Department of Neurosciences, Hospital de Santa Maria-CHLN, Lisbon, Portugal; Institute of Physiology, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal
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- Neuwirth, Christoph (författare)
- Neuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland
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- Weber, Markus (författare)
- Neuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland
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- Andersen, Peter M., 1962- (författare)
- Umeå universitet,Neurovetenskaper
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- van den Berg, Leonard H. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- Veldink, Jan H. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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- van Es, Michael A. (författare)
- Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
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(creator_code:org_t)
- Elsevier, 2023
- 2023
- Engelska.
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Ingår i: Neurobiology of Aging. - : Elsevier. - 0197-4580 .- 1558-1497. ; 122, s. 76-87
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Nyckelord
- Amyotrophic Lateral Sclerosis
- Genetic modifiers
- Post-zygotic mutations
- Repeat expansions
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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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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visa fler...
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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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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Neurovetenskaper
- Artiklar i publikationen
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Neurobiology of ...
- Av lärosätet
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Umeå universitet