Christopher M. Gomez to Mutation
This is a "connection" page, showing publications Christopher M. Gomez has written about Mutation.
Connection Strength
0.982
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Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis. Neurology. 2015 Mar 17; 84(11):1070-1.
Score: 0.220
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Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits. Mol Cell Neurosci. 2007 Feb; 34(2):168-77.
Score: 0.125
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Macroscopic properties of spontaneous mutations in slow-channel syndrome: correlation by domain and disease severity. Synapse. 2006 Nov; 60(6):441-9.
Score: 0.124
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Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits. Ann Neurol. 2003 Dec; 54(6):725-31.
Score: 0.101
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De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899.
Score: 0.083
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Targeting the CACNA1A IRES as a Treatment for Spinocerebellar Ataxia Type 6. Cerebellum. 2018 02; 17(1):72-77.
Score: 0.067
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A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet. 2012 Dec 15; 21(26):5472-83.
Score: 0.046
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Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One. 2011 Mar 29; 6(3):e17811.
Score: 0.042
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Novel beta subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation. Mol Cell Neurosci. 2006 May-Jun; 32(1-2):82-90.
Score: 0.030
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C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet. 2006 May 15; 15(10):1587-99.
Score: 0.030
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Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004 Mar; 55(3):347-52.
Score: 0.026
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ARSACS goes global. Neurology. 2004 Jan 13; 62(1):10-1.
Score: 0.025
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Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome. J Neurosci. 2002 Aug 01; 22(15):6447-57.
Score: 0.023
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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
Score: 0.017
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A transgenic mouse model of the slow-channel syndrome. Muscle Nerve. 1996 Jan; 19(1):79-87.
Score: 0.015
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Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92.
Score: 0.009