JAMES LUPSKI to Mitochondrial Proteins
This is a "connection" page, showing publications JAMES LUPSKI has written about Mitochondrial Proteins.
Connection Strength
1.363
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Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 Oct 06; 99(4):831-845.
Score: 0.482
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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 04 12; 13(1):55.
Score: 0.165
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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord. 2021 01; 82:84-86.
Score: 0.161
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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: 0.152
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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 06 01; 27(11):1913-1926.
Score: 0.136
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
Score: 0.112
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Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene. Acta Myol. 2007 Oct; 26(2):108-11.
Score: 0.065
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MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006 Aug; 129(Pt 8):2093-102.
Score: 0.059
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.031