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Articles by Luke O'Donnell
Journal of the Peripheral Nervous System | PNS Neuroscience Journal | Wiley Online Library
1 Introduction Hereditary transthyretin amyloidosis (ATTRv) results from variants in the TTR gene [1]. The Val30Met variant is the most frequent worldwide, whereas the Thr60Ala variant is the most frequent in white Irish and British populations [1, 2].
Digenic FLNA and UCHL1 variants resulting in a complex phenotype
Aim X-linked variants in FLNA are associated with the Ehlers-Danlos-Syndrome (EDS)-variant form of periventricular heterotopia, and autosomal dominant variants in UCHL1 are associated with a late-onset spastic ataxia, peripheral neuropathy, and optic atrophy. Here we present a rare case involving both a novel heterozygous whole gene deletion of UCHL1 and a heterozygous frameshift variant in the FLNA gene resulting in a complex phenotype.
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation
AMR, JMM and MMR are joint senior authors. LFO and MP are joint first authors. LFO and MP contributed equally. AMR, JMM and MMR contributed equally. Contributors LFO’D and MP collected data, performed the primary analysis and wrote the manuscript. AMR, JMM and MMR contributed equally to this paper. AMR, JMM and MMR were responsible for the paper concept and design, data collection, primary analysis, writing the manuscript and edits.
UH volleyball sweeps Stephen F. Austin in double-header
By Luke O'Donnell January 29, 2021 UH volleyball middle blocker Rachel Tullos (11), who had 10 kills in the fire match against Stephen F. Austin on Thursday, greets SMU players at the top of the net in a regular season game against the Mustangs in the 2019 season. | Trevor Nolley/The Cougar Following the commencement of their season with a split in a doubleheader against Rice, the Houston volleyball team returned to the Athletics Alumni Center as they faced off against Stephen F.
Autoimmune encephalitis associated with Ma2 antibodies and immune checkpoint inhibitor therapy
Autoimmune encephalitis associated with Ma2 antibodies and immune checkpoint inhibitor therapy http://orcid.org/0000-0001-8381-7531Shane Lyons1, Ronan Joyce1, Patrick Moynagh1, Luke O'Donnell1, Silive Blazkova2, Timothy J Counihan1,3 1Neurology Department, University Hospital Galway, Galway, Ireland 2Oncology Department, University Hospital Galway, Galway, Ireland 3National University of Ireland Galway, Galway, Ireland Correspondence to Dr Shane Lyons, University Hospital Galway, Galway H91...
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