Tarnopolsky MA - Search Results

1

Males With MECP2 C-terminal-Related Atypical Rett Syndromes and Their Carrier Mothers.

Ronen GM, Brady LI, Tarnopolsky MA. Ronen GM, et al. Among authors: tarnopolsky ma. Pediatr Neurol. 2017 Feb;67:98-101. doi: 10.1016/j.pediatrneurol.2016.10.012. Epub 2016 Oct 25. Pediatr Neurol. 2017. PMID: 28089766

2

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.

Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA; Canadian Pediatric Genetic Disorders Sequencing Consortium (FORGE Canada). Lines MA, et al. Among authors: tarnopolsky ma. Neurology. 2014 Mar 18;82(11):963-8. doi: 10.1212/WNL.0000000000000219. Epub 2014 Feb 19. Neurology. 2014. PMID: 24553428 Free PMC article.

3

Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.

Forbes N, Goodwin S, Woodward K, Morgan DG, Brady L, Coulthart MB, Tarnopolsky MA. Forbes N, et al. Among authors: tarnopolsky ma. BMC Med Genet. 2014 Feb 20;15:22. doi: 10.1186/1471-2350-15-22. BMC Med Genet. 2014. PMID: 24555712 Free PMC article.

4

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet.

Steriade C, Andrade DM, Faghfoury H, Tarnopolsky MA, Tai P. Steriade C, et al. Among authors: tarnopolsky ma. Pediatr Neurol. 2014 May;50(5):498-502. doi: 10.1016/j.pediatrneurol.2014.01.009. Epub 2014 Jan 7. Pediatr Neurol. 2014. PMID: 24656211

5

Impact of habitual exercise on the strength of individuals with myotonic dystrophy type 1.

Brady LI, MacNeil LG, Tarnopolsky MA. Brady LI, et al. Among authors: tarnopolsky ma. Am J Phys Med Rehabil. 2014 Sep;93(9):739-46; quiz 747-8. doi: 10.1097/PHM.0000000000000088. Am J Phys Med Rehabil. 2014. PMID: 24743456

6

Two cases of congenital myasthenic syndrome with vocal cord paralysis.

Al-Shahoumi R, Brady LI, Schwartzentruber J, Tarnopolsky MA. Al-Shahoumi R, et al. Among authors: tarnopolsky ma. Neurology. 2015 Mar 24;84(12):1281-2. doi: 10.1212/WNL.0000000000001396. Epub 2015 Feb 18. Neurology. 2015. PMID: 25695962 Free PMC article. No abstract available.

7

Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults.

Tarnopolsky M, Hoffman E, Giri M, Shoffner J, Brady L. Tarnopolsky M, et al. Neuromuscul Disord. 2015 Dec;25(12):952-4. doi: 10.1016/j.nmd.2015.09.010. Epub 2015 Sep 25. Neuromuscul Disord. 2015. PMID: 26453141

8

Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.

Brady L, Giri M, Provias J, Hoffman E, Tarnopolsky M. Brady L, et al. Neuromuscul Disord. 2016 Feb;26(2):160-4. doi: 10.1016/j.nmd.2015.11.002. Epub 2015 Dec 4. Neuromuscul Disord. 2016. PMID: 26782016

9

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.

Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK. Okur V, et al. Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5. Hum Genet. 2016. PMID: 27048600

10

Two novel mitochondrial tRNA mutations, A7495G (tRNA^Ser(UCN)) and C5577T (tRNA^Trp), are associated with seizures and cardiac dysfunction.

Djordjevic D, Brady L, Bai R, Tarnopolsky MA. Djordjevic D, et al. Among authors: tarnopolsky ma. Mitochondrion. 2016 Nov;31:40-44. doi: 10.1016/j.mito.2016.09.002. Epub 2016 Sep 28. Mitochondrion. 2016. PMID: 27693765

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