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Page 1
Mitochondrial genetic diseases.
Falk MJ, Sondheimer N. Falk MJ, et al. Curr Opin Pediatr. 2010 Dec;22(6):711-6. doi: 10.1097/MOP.0b013e3283402e21. Curr Opin Pediatr. 2010. PMID: 21045694 Free PMC article. Review.
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
Elander J, McCormick EM, Värendh M, Stenfeldt K, Ganetzky RD, Goldstein A, Zolkipli-Cunningham Z, MacMullen LE, Xiao R, Falk MJ, Ehinger JK. Elander J, et al. Mol Genet Metab. 2022 Nov;137(3):230-238. doi: 10.1016/j.ymgme.2022.09.002. Epub 2022 Sep 19. Mol Genet Metab. 2022. PMID: 36182714 Free PMC article.
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.
Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. Falk MJ, et al. JIMD Rep. 2014;14:77-85. doi: 10.1007/8904_2013_287. Epub 2014 Feb 11. JIMD Rep. 2014. PMID: 24515575 Free PMC article.
A modern approach to the treatment of mitochondrial disease.
Parikh S, Saneto R, Falk MJ, Anselm I, Cohen BH, Haas R, Medicine Society TM. Parikh S, et al. Curr Treat Options Neurol. 2009 Nov;11(6):414-30. doi: 10.1007/s11940-009-0046-0. Curr Treat Options Neurol. 2009. PMID: 19891905 Free PMC article.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.
16 results