JAMES LUPSKI to Cerebellum
This is a "connection" page, showing publications JAMES LUPSKI has written about Cerebellum.
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.141
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.100
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Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. Am J Med Genet A. 2015 Sep; 167A(9):2132-7.
Score: 0.094
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 12 01; 146(12):5031-5043.
Score: 0.043
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Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet. 2002 Oct; 32(2):267-72.
Score: 0.039
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De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. Am J Med Genet A. 2022 08; 188(8):2360-2366.
Score: 0.039
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 01 01; 143(1):112-130.
Score: 0.033