Institute of Psychiatry Psychology and Neuroscience
31 papers found
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis
The neuropathology of ALS-FUS: singleton FUS mutations and an unusual case with both a TARDBP and FUS mutation
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population
Novel mutations support a role for Profilin 1 in the pathogenesis of ALS
Profilin 1 in ALS: neuropathology of 3 cases with PFN1 mutations/variants
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.
Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
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
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion
The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
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