THOMAS LLOYD to Mutation
This is a "connection" page, showing publications THOMAS LLOYD has written about Mutation.
Connection Strength
0.647
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Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A. Muscle Nerve. 2018 05; 57(5):E126-E128.
Score: 0.213
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The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini. Neuron. 2012 Apr 26; 74(2):344-60.
Score: 0.143
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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases. J Neurol Neurosurg Psychiatry. 2021 11; 92(11):1186-1196.
Score: 0.067
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Drosophila models of amyotrophic lateral sclerosis with defects in RNA metabolism. Brain Res. 2018 08 15; 1693(Pt A):109-120.
Score: 0.054
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FIG4 regulates lysosome membrane homeostasis independent of phosphatase function. Hum Mol Genet. 2016 Feb 15; 25(4):681-92.
Score: 0.046
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Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014 Sep 04; 95(3):332-9.
Score: 0.042
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Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 10 03; 146(10):4336-4349.
Score: 0.020
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. J Neurol. 2023 Dec; 270(12):5849-5865.
Score: 0.020
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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 03; 93(3):563-576.
Score: 0.019
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Mutant Huntingtin Disrupts the Nuclear Pore Complex. Neuron. 2017 Apr 05; 94(1):93-107.e6.
Score: 0.013
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WIDE AWAKE mediates the circadian timing of sleep onset. Neuron. 2014 Apr 02; 82(1):151-66.
Score: 0.010