Ryan J H West
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Explore the profile of Ryan J H West including associated specialties, affiliations and a list of published articles.
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18
Citations
239
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Recent Articles
1.
Bennett C, Dastidar S, Arnold F, McKinstry S, Stockford C, Freibaum B, et al.
Acta Neuropathol Commun
. 2023 Oct;
11(1):164.
PMID: 37845749
Identifying genetic modifiers of familial amyotrophic lateral sclerosis (ALS) may reveal targets for therapeutic modulation with potential application to sporadic ALS. GGGGCC (G4C2) repeat expansions in the C9orf72 gene underlie...
2.
Sharpe J, Harper N, West R
Bio Protoc
. 2022 Jul;
12(10):e4424.
PMID: 35813024
Repeat expansion diseases, including fragile X syndrome, Huntington's disease, and -related motor neuron disease and frontotemporal dementia, are a group of disorders associated with polymorphic expansions of tandem repeat nucleotide...
3.
Sharpe J, Harper N, Garner D, West R
Front Cell Neurosci
. 2021 Nov;
15:770937.
PMID: 34744635
An intronic hexanucleotide (GGGGCC) expansion in the gene is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In the decade following its discovery, much...
4.
Ugbode C, West R
Neurobiol Dis
. 2020 Nov;
147:105144.
PMID: 33144171
Frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are two neurodegenerative diseases with clinical, genetic and pathological overlap. As such, they are commonly regarded as a single spectrum disorder, with...
5.
West R, Sharpe J, Voelzmann A, Munro A, Hahn I, Baines R, et al.
Acta Neuropathol Commun
. 2020 Sep;
8(1):158.
PMID: 32894207
A large intronic hexanucleotide repeat expansion (GGGGCC) within the C9orf72 (C9orf72-SMCR8 Complex Subunit) locus is the most prevalent genetic cause of both Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND)....
6.
Lu Y, West R, Pons M, Sweeney S, Gao F
Sci Rep
. 2020 Aug;
10(1):14221.
PMID: 32848189
Mutations in CHMP2B, encoding a protein in the endosomal sorting complexes required for transport (ESCRT) machinery, causes frontotemporal dementia linked to chromosome 3 (FTD3). FTD, the second most common form...
7.
West R, Ugbode C, Fort-Aznar L, Sweeney S
Neurobiol Dis
. 2020 Aug;
144:105047.
PMID: 32801000
Frontotemporal dementia (FTD) is one of the most prevalent forms of early-onset dementia. It represents part of the FTD-Amyotrophic Lateral Sclerosis (ALS) spectrum, a continuum of genetically and pathologically overlapping...
8.
Vilidaite G, Norcia A, West R, Elliott C, Pei F, Wade A, et al.
Proc Biol Sci
. 2019 Apr;
285(1893):20182255.
PMID: 30963913
There is increasing evidence for a strong genetic basis for autism, with many genetic models being developed in an attempt to replicate autistic symptoms in animals. However, current animal behaviour...
9.
West R, Briggs L, Perona Fjeldstad M, Ribchester R, Sweeney S
J Comp Neurol
. 2018 May;
526(13):1995-2009.
PMID: 29761896
Sphingolipids are found in abundance at synapses and have been implicated in regulation of synapse structure, function, and degeneration. Their precise role in these processes, however, remains obscure. Serine Palmitoyl-transferase...
10.
West R, Ugbode C, Gao F, Sweeney S
Hum Mol Genet
. 2018 Feb;
27(8):1382-1395.
PMID: 29432529
Frontotemporal dementia (FTD) is one of the most prevalent forms of early-onset dementia. However, the pathological mechanisms driving neuronal atrophy in FTD remain poorly understood. Here we identify a conserved...