Encontrados 5 documentos, a visualizar página 1 de 1
Whole genome sequencing analysis reveals post-zygotic mutation variability in m...
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, MarleenAmyotrophic 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 epigenet...
Structural variation analysis of 6,500 whole genome sequences in amyotrophic la...
Al Khleifat, Ahmad; Iacoangeli, Alfredo; van Vugt, Joke J. F. A.; Bowles, Harry; Moisse, Matthieu; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability. We therefore investigated associati...
Genome-wide study of DNA methylation shows alterations in metabolic, inflammato...
Hop, Paul J.; Zwamborn, Ramona A. J.; Hannon, Eilis; Shireby, Gemma L.; Nabais, Marta F.; Walker, Emma M.; van Rheenen, Wouter; van Vugt, Joke J. F. A.Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression, as well as providing a potential mechanism that mediates genetic or environmental risk. Here, we present a blood-based epigenome-wide association study meta-analysis in 9706 samples passing stringent...
July 2017 ENCALS statement on edaravone
Al-Chalabi, Ammar; Andersen, Peter M.; Chandran, Siddharthan; Chio, Adriano; Corcia, Philippe; Couratier, Philippe; Danielsson, Olof; Carvalho, MamedeNeurologists of the ENCALS centers throughout Europe have discussed the potential of edaravone as a new therapy for amyotrophic lateral sclerosis (ALS, Motor Neuron Disease, MND) at the ENCALS meeting, 18–20 May 2017, in Ljubljana, Slovenia. In May 2017, the US Food and Drug Administration (FDA) granted a license for the drug known as edaravone (licensed in Japan in 2015 as Radicut) for the treatment of ALS in ...
Genome-wide association analyses identify new risk variants and the genetic arc...
van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M.; McLaughlin, Russell L.; Diekstra, Frank P.; Pulit, Sara L.; van der Spek, Rick A. A.To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fin...