5 documents found, page 1 of 1
A semantic perspective on belief change in a preferential non-monotonic framework
Casini, Giovanni; Fermé, Eduardo; Meyer, Thomas; Varzinczak, IvanBelief change and non-monotonic reasoning are usually viewed as two sides of the same coin, with results showing that one can formally be defined in terms of the other. In this paper we investigate the integration of the two formalisms by studying belief change for a (preferential) non-monotonic framework. We show that the standard AGM approach to be lief change can be transferred to a preferential non-monotoni...
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...
Sequence variations in C9orf72 downstream of the hexanucleotide repeat region a...
Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; Alstermark, Helena; Forsberg, Karin; Baumann, Peter; Pinto, Susana; Carvalho, MamedeA large GGGGCC-repeat expansion mutation (HREM) in C9orf72 is the most common known cause of ALS and FTD in European populations. Sequence variations immediately downstream of the HREM region have previously been observed and have been suggested to be one reason for difficulties in interpreting RP-PCR data. Our objective was to determine the properties of these sequence variations with regard to prevalence, the...
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Freischmidt, Axel; Wieland, Thomas; Richter, Benjamin; Ruf, Wolfgang; Schaeffer, Veronique; Müller, Kathrin; Marroquin, Nicolai; Nordin, FridaAmyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees....