JAMES LUPSKI to Brain Diseases
This is a "connection" page, showing publications JAMES LUPSKI has written about Brain Diseases.
Connection Strength
0.792
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.
Score: 0.189
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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. Am J Hum Genet. 2023 04 06; 110(4):681-690.
Score: 0.171
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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42?affected individuals. Genet Med. 2023 01; 25(1):90-102.
Score: 0.166
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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 02 12; 10(1):708.
Score: 0.128
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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 Jan 07; 98(1):202-9.
Score: 0.103
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 02 06; 106(2):272-279.
Score: 0.034