Milone M - Search Results

1

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: milone m. Mitochondrion. 2014 Jan;14(1):26-33. doi: 10.1016/j.mito.2013.07.116. Epub 2013 Jul 26. Mitochondrion. 2014. PMID: 23891656

2

Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.

Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Cui H, et al. Among authors: milone m. Genet Med. 2013 May;15(5):388-94. doi: 10.1038/gim.2012.144. Epub 2013 Jan 3. Genet Med. 2013. PMID: 23288206 Free article.

3

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Among authors: milone m. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.

4

Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle.

Milone M, Klassen BT, Landsverk ML, Haas RH, Wong LJ. Milone M, et al. JAMA Neurol. 2013 Nov;70(11):1429-31. doi: 10.1001/jamaneurol.2013.3521. JAMA Neurol. 2013. PMID: 24061067

5

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

Milone M, Younge BR, Wang J, Zhang S, Wong LJ. Milone M, et al. Mitochondrion. 2009 Jul;9(4):279-81. doi: 10.1016/j.mito.2009.03.001. Epub 2009 Mar 20. Mitochondrion. 2009. PMID: 19303950

6

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Tang S, et al. Among authors: milone m. J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31. J Med Genet. 2011. PMID: 21880868

7

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Tang S, Dimberg EL, Milone M, Wong LJ. Tang S, et al. Among authors: milone m. J Neurol. 2012 May;259(5):862-8. doi: 10.1007/s00415-011-6268-6. Epub 2011 Oct 13. J Neurol. 2012. PMID: 21993618

8

Mitochondrial dynamics: general concepts and clinical implications.

Milone M, Benarroch EE. Milone M, et al. Neurology. 2012 May 15;78(20):1612-9. doi: 10.1212/WNL.0b013e3182563c46. Neurology. 2012. PMID: 22585436 Review. No abstract available.

9

Diagnosis of mitochondrial myopathies.

Milone M, Wong LJ. Milone M, et al. Mol Genet Metab. 2013 Sep-Oct;110(1-2):35-41. doi: 10.1016/j.ymgme.2013.07.007. Epub 2013 Jul 17. Mol Genet Metab. 2013. PMID: 23911206 Review.

10

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.

Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong LJ. Liewluck T, et al. Among authors: milone m. Muscle Nerve. 2016 Jun;53(6):984-8. doi: 10.1002/mus.25054. Epub 2016 Apr 25. Muscle Nerve. 2016. PMID: 26802438

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