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comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
Original title: “Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.”
endothelial mitochondrial coupling in mitochondrial disease a systematic review and quantitative synthesis of vascular biochemical and oxidative bioenergetic dysfunction
Original title: “Endothelial-mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction.”
anesthetic management of patient with myoclonic epilepsy with ragged red fibers a mitochondrial disease a case report
Original title: “Anesthetic management of patient with myoclonic epilepsy with ragged red fibers, a mitochondrial disease - A case report.”
digital cognitive testing in mitochondrial disease validity and challenges for clinical trial use
Original title: “Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use.”
delineation and phenotypic expansion of top3a related mitochondrial disease in childhood
Original title: “Delineation and Phenotypic Expansion of TOP3A-Related Mitochondrial Disease in Childhood.”
ttc19 related mitochondrial disease a characteristic neuroimaging signature
Original title: “TTC19-related mitochondrial disease: A characteristic neuroimaging signature?”
mitochondrial disease mechanisms signalling and therapeutic opportunities
Original title: “Mitochondrial disease: mechanisms, signalling, and therapeutic opportunities.”
antenatal presentation of mrps22 related mitochondrial disease confirmed with rapid proteomics
Original title: “Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics.”
biallelic variants in chchd4 are associated with combined oxphos defect leading to mitochondrial disease
Original title: “Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease.”
m 10010t c mitochondrial disease a case report with hypoparathyroidism and review of the literature
Original title: “m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature.”
clinical heterogeneity and candidate biomarkers in polg related mitochondrial disease
Original title: “Clinical Heterogeneity and Candidate Biomarkers in POLG-Related Mitochondrial Disease.”
surgical treatment for spinal scoliosis in patient with mitochondrial disease after heart transplantation a case report and literature review
Original title: “Surgical Treatment for Spinal Scoliosis in Patient With Mitochondrial Disease After Heart Transplantation: A Case Report and Literature Review.”
phenotypic description and functional characterization of the mitochondrial disease associated with the sfxn4 gene
Original title: “Phenotypic description and functional characterization of the mitochondrial disease associated with the SFXN4 gene.”