scholarly article | Q13442814 |
P50 | author | Stephan Züchner | Q30500867 |
Michael Shy | Q59554732 | ||
Claudia P Pereira | Q64793905 | ||
P2093 | author name string | Eric A Schon | |
Hua Yang | |||
Amjad Farooq | |||
Carlos T Moraes | |||
Dimah Saade | |||
Adriana P Rebelo | |||
Lisa Abreu | |||
Tyler C Huff | |||
Diana Mnatsakanova | |||
Kathy Mathews | |||
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Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core | Q34220248 | ||
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Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis | Q37112824 | ||
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model | Q39186332 | ||
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis | Q41875907 | ||
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A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency | Q84823970 | ||
P4510 | describes a project that uses | ImageJ | Q1659584 |
P407 | language of work or name | English | Q1860 |
P577 | publication date | 2018-01-16 | |
P1433 | published in | Brain | Q897386 |
P1476 | title | SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency |
Q92087519 | COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase |
Q92028567 | Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy |
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Q90704832 | Vitamin C regulates Schwann cell myelination by promoting DNA demethylation of pro-myelinating genes |
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