Article
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Feb 2023
Tazelaar Gijs H P, Hop Paul J, Seelen Meinie, van Vugt Joke J F A, van Rheenen Wouter, Kool Lindy, van Eijk Kristel R, Gijzen Marleen, Dooijes Dennis, Moisse Matthieu, Calvo Andrea, Moglia Cristina, Brunetti Maura, Canosa Antonio, Nordin Angelica, Pardina Jesus S Mora, Ravits John, Al-Chalabi Ammar, Chio Adriano, McLaughlin Russell L, Hardiman Orla, Van Damme Philip, de Carvalho Mamede, Neuwirth Christoph, Weber Markus, Andersen Peter M, van den Berg Leonard H, Veldink Jan H, van Es Michael A
Abstract excerpt
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...
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