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Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis

Tazelaar, Gijs H.P. (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
Hop, Paul J. (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
Seelen, Meinie (author)
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. (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
van Rheenen, Wouter (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
Kool, Lindy (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
van Eijk, Kristel R. (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
Gijzen, Marleen (author)
Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Dooijes, Dennis (author)
Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands
Moisse, Matthieu (author)
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
Calvo, Andrea (author)
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
Moglia, Cristina (author)
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
Brunetti, Maura (author)
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
Canosa, Antonio (author)
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
Nordin, Angelica (author)
Umeå universitet,Neurovetenskaper
Pardina, Jesus S. Mora (author)
ALS Unit, Hospital San Rafael, Madrid, Spain
Ravits, John (author)
Department of Neurosciences, University of California at San Diego, CA, La Jolla, United States
Al-Chalabi, Ammar (author)
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
Chio, Adriano (author)
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
McLaughlin, Russell L. (author)
Population Genetics Laboratory, Smurfit Institute of Genetics, Trinity College Dublin, Ireland
Hardiman, Orla (author)
Academic Unit of Neurology, Trinity College Dublin, Trinity Biomedical Sciences Institute, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland
Van Damme, Philip (author)
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
de Carvalho, Mamede (author)
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
Neuwirth, Christoph (author)
Neuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland
Weber, Markus (author)
Neuromuscular Diseases Unit / ALS Clinic, Kantonsspital St.Gallen, St.Gallen, Switzerland
Andersen, Peter M., 1962- (author)
Umeå universitet,Neurovetenskaper
van den Berg, Leonard H. (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
Veldink, Jan H. (author)
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, Netherlands
van Es, Michael A. (author)
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
English.
In: Neurobiology of Aging. - : Elsevier. - 0197-4580 .- 1558-1497. ; 122, s. 76-87
Related links:
https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
https://urn.kb.se/re...
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  • Journal article (peer-reviewed)
Abstract Subject headings
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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

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)

Keyword

Amyotrophic Lateral Sclerosis
Genetic modifiers
Post-zygotic mutations
Repeat expansions

Publication and Content Type

ref (subject category)
art (subject category)

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