Simon D. Topp
King's College London
20 papers found
Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS.
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
Deep sequencing of theLRRK2gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe
The role of positive selection in determining the molecular cause of species differences in disease
Pertinent Background Knowledge for Learning Protein Grammars
New Methods for Researching Accessory Proteins
Are grammatical representations useful for learning from biological sequence data?— a case study
Characterisation of gene expression changes following permanent MCAO in the rat using subtractive hybridisation
Cloning and functional expression of a human orthologue of rat vanilloid receptor-1:
An ILP Refinement Operator for Biological Grammar Learning.
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