Tarnopolsky M - Search Results

1

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Parikh S, et al. Among authors: tarnopolsky m. J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25. J Med Genet. 2019. PMID: 30683676 Review.

2

Nutritional and exercise-based therapies in the treatment of mitochondrial disease.

Mahoney DJ, Parise G, Tarnopolsky MA. Mahoney DJ, et al. Curr Opin Clin Nutr Metab Care. 2002 Nov;5(6):619-29. doi: 10.1097/00075197-200211000-00004. Curr Opin Clin Nutr Metab Care. 2002. PMID: 12394637 Review.

3

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, MacKay N, Robinson BH. Tarnopolsky MA, et al. Am J Med Genet A. 2004 Mar 15;125A(3):310-4. doi: 10.1002/ajmg.a.20466. Am J Med Genet A. 2004. PMID: 14994243

4

Low expression of long-chain acyl-CoA dehydrogenase in human skeletal muscle.

Maher AC, Mohsen AW, Vockley J, Tarnopolsky MA. Maher AC, et al. Mol Genet Metab. 2010 Jun;100(2):163-7. doi: 10.1016/j.ymgme.2010.03.011. Epub 2010 Mar 19. Mol Genet Metab. 2010. PMID: 20363655 Free PMC article.

5

Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men.

Maher AC, Akhtar M, Vockley J, Tarnopolsky MA. Maher AC, et al. Among authors: tarnopolsky ma. PLoS One. 2010 Aug 6;5(8):e12025. doi: 10.1371/journal.pone.0012025. PLoS One. 2010. PMID: 20700461 Free PMC article.

6

The mitochondrial genome and psychiatric illness.

Anglin RE, Mazurek MF, Tarnopolsky MA, Rosebush PI. Anglin RE, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):749-59. doi: 10.1002/ajmg.b.32086. Epub 2012 Aug 6. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22887963 Review.

7

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

Marin SE, Mesterman R, Robinson B, Rodenburg RJ, Smeitink J, Tarnopolsky MA. Marin SE, et al. Gene. 2013 Mar 1;516(1):162-7. doi: 10.1016/j.gene.2012.12.024. Epub 2012 Dec 22. Gene. 2013. PMID: 23266820

8

Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease.

Kitaoka Y, Ogborn DI, Mocellin NJ, Schlattner U, Tarnopolsky MA. Kitaoka Y, et al. Mol Genet Metab. 2013 Apr;108(4):259-62. doi: 10.1016/j.ymgme.2013.01.005. Epub 2013 Jan 19. Mol Genet Metab. 2013. PMID: 23434346

9

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.

Tarnopolsky M, Meaney B, Robinson B, Sheldon K, Boles RG. Tarnopolsky M, et al. Am J Med Genet A. 2013 Aug;161A(8):2020-3. doi: 10.1002/ajmg.a.36000. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813926

10

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; Mitochondrial Medicine Society Clinical Directors Working Group; MMS Clinical Director's Work Group; Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Parikh S, et al. Among authors: tarnopolsky m. Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26. Mitochondrion. 2014. PMID: 23891656

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