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Journal Articles

  1. Dorado B, Area E, Akman HO, Hirano M. Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation. Hum. Mol. Genet. Jan 1 2011;20(1):155-164. PMID: 20940150, PMCID: PMC3000681
  2. Quinzii CM, Hirano M. Primary and secondary CoQ(10) deficiencies in humans. Biofactors. Sep 2011;37(5):361-365. PMID: 21990098, PMCID: PMC3258494
  3. Marti R, Dorado B, Hirano M. Measurement of mitochondrial dNTP pools. Methods Mol. Biol. 2012;837:135-148. PMID: 22215545
  4. Marti R, Lopez LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol. Biol. 2012;837:121-133. PMID: 22215544, PMCID: PMC4942128
  5. Rahman S, Clarke CF, Hirano M. 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q(1)(0) deficiency. Neuromuscul. Disord. Jan 2012;22(1):76-86. PMID: 21723727, PMCID: PMC3222743
  6. Pascual JM, Liu P, Mao D, et al. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA neurology. Oct 2014;71(10):1255-1265. PMID: 25110966, PMCID: PMC4376124
  7. Balreira A, Boczonadi V, Barca E, et al. ANO10 mutations cause ataxia and coenzyme Q(1)(0) deficiency. J. Neurol. Nov 2014;261(11):2192-2198. PMID: 25182700, PMCID: PMC4221650
  8. Gonzalez M, Falk MJ, Gai X, Postrel R, Schule R, Zuchner S. Innovative genomic collaboration using the GENESIS (GEM.app) platform. Hum. Mutat. 2015;36(10):950-956. PMID: 26173844, PMCID: PMC4682547
  9. Falk MJ, Shen L, Gonzalez M, et al. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol. Genet. Metab. Mar 2015;114(3):388-396. PMID: 25542617, PMCID: PMC4512182
  10. Navarro-Gomez D, Leipzig J, Shen L, et al. Phy-Mer: a novel alignment-free and referenceindependent mitochondrial haplogroup classifier. Bioinformatics. Apr 15 2015;31(8):1310- 1312. PMID: 25505086, PMCID: PMC4393525
  11. Al-Mehmadi S, Splitt M, Ramesh V, et al. FHF1 (FGF12) epileptic encephalopathy. Neurology Genetics. 2016;2(6):e115. PMID: 27830185, PMCID: PMC5087254
  12. Karaa A, Kriger J, Grier J, et al. Mitochondrial disease patients' perception of dietary supplements' use. Mol Genet Metab. 2016;119(1-2):100-108. PMID: 27444792, PMCID: PMC5031526
  13. Merkel PA, Manion M, Gopal-Srivastava R, et al. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J. Rare Dis. 2016;11(1):66. PMID: 27194034, PMCID: PMC4870759 105
  14. Servian-Morilla E, Takeuchi H, Lee TV, et al. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med. 2016;8(11):1289-1309. PMID: 27807076, PMCID: PMC5090660
  15. Shen L, Diroma MA, Gonzalez M, et al. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat. 2016;37(6):540-548. PMID: 26919060, PMCID: PMC4846568
  16. Torres-Torronteras J, Cabrera-Perez R, Barba I, et al. Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. Hum Gene Ther. 2016;27(9):656-667. PMID: 27004974, PMCID: PMC5079415
  17. Marin SE, Saneto RP. Neuropsychiatric Features in Primary Mitochondrial Disease. Neurol. Clin. Feb 2016;34(1):247-294. PMID: 26614002
  18. Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, et al. A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder. J Child Neurol. 2017;32(2):246-250. PMID: 27651038
  19. Huang X, Bedoyan JK, Demirbas D, et al. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017;120(3):213-222. PMID: 27913098, PMCID: PMC5346465
  20. Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab. 2017. PMID: 28918066, PMCID: PMC5722699
  21. Bedoyan JK, Yang SP, Ferdinandusse S, et al. Lethal neonatal case and review of primary shortchain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab. Apr 2017;120(4):342-349. PMID: 28202214, PMCID: PMC5382105
  22. Grier J, Hirano M, Karaa A, Shepard E, Thompson JLP. Diagnostic odyssey of patients with mitochondrial disease: Results of a survey. Neurology Genetics. 2018;4(2):e230. PMID: 29600276, PMCID: PMC5873725
  23. Shen L, Attimonelli M, Bai R, et al. MSeqDR mvTool: A mitochondrial DNA web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Hum Mutat. 2018. PMID: 29539190
  24. Zolkipli-Cunningham Z, Xiao R, Stoddart A, et al. Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS ONE. 2018;13(5):e0197513. PMID: 29771953, PMCID: PMC5957366
  25. Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab. 2019 Dec 30. pii: S1096-7192(19)30567-0. doi: 10.1016/j.ymgme.2019.12.013. [Epub ahead of print]
  26. Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, et al. Mitochondrial diseases in North America. An analysis of the NAMDC Registry. Neurol Genet 2020;6:e402. doi:10.1212/NXG.0000000000000402