JAMES LUPSKI to Cerebellar Ataxia
This is a "connection" page, showing publications JAMES LUPSKI has written about Cerebellar Ataxia.
Connection Strength
0.677
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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.
Score: 0.195
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 02; 41(2):487-501.
Score: 0.151
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 08; 6(8):1395-1406.
Score: 0.148
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13(7):e1006905.
Score: 0.129
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An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005 Jan 11; 64(1):142-4.
Score: 0.054