Co-Authors
This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and CHAYA MURALI.
Connection Strength
1.014
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Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A?(p.Arg207His) pathogenic variant: A novel family and a review of the literature. Mol Genet Metab. 2026 Jul 14; 149(1-2):110207.
Score: 0.248
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JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial-Immune Crosstalk. JIMD Rep. 2026 Jul; 67(4):e70096.
Score: 0.247
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A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature. Am J Med Genet A. 2026 May 26.
Score: 0.245
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TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Mol Genet Metab. 2021 02; 132(2):146-153.
Score: 0.169
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Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder. Genet Med Open. 2025; 3:103425.
Score: 0.057
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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genet Med. 2023 04; 25(4):100352.
Score: 0.048