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Items: 1 to 50 of 483

1.

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR.

Acta Neuropathol. 2020 Mar 31. doi: 10.1007/s00401-020-02150-w. [Epub ahead of print]

PMID:
32236737
2.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J.

Front Mol Neurosci. 2020 Feb 11;13:12. doi: 10.3389/fnmol.2020.00012. eCollection 2020.

3.

Correction to: Altered mitochondrial bioenergetics and ultrastructure in the skeletal muscle of young adults with type 1 diabetes.

Monaco CMF, Hughes MC, Ramos SV, Varah NE, Lamberz C, Rahman FA, McGlory C, Tarnopolsky MA, Krause MP, Laham R, Hawke TJ, Perry CGR.

Diabetologia. 2020 Apr;63(4):887-888. doi: 10.1007/s00125-020-05092-w.

PMID:
31993715
4.

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, Brady L, Larsen MJ, Jamra RA, Seibt A, Hejbøl EK, Gade E, Markovic L, Klee D, Nagy P, Rouse N, Agarwal P, Dolinsky VW, Bakovic M.

Brain. 2020 Jan 1;143(1):94-111. doi: 10.1093/brain/awz376.

PMID:
31855247
5.

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations.

Barresi S, Dentici ML, Manzoni F, Bellacchio E, Agolini E, Pizzi S, Ciolfi A, Tarnopolsky M, Brady L, Garone G, Novelli A, Mei D, Guerrini R, Capuano A, Pantaleoni C, Tartaglia M.

Pediatr Neurol. 2020 Mar;104:40-45. doi: 10.1016/j.pediatrneurol.2019.09.005. Epub 2019 Oct 19.

PMID:
31836334
6.

An evaluation of genetic causes and environmental risks for bilateral optic atrophy.

Chen AT, Brady L, Bulman DE, Sundaram ANE, Rodriguez AR, Margolin E, Waye JS, Tarnopolsky MA.

PLoS One. 2019 Nov 25;14(11):e0225656. doi: 10.1371/journal.pone.0225656. eCollection 2019.

7.

Severe chorioretinal atrophy in Boucher-Neuhauser syndrome.

Donaldson L, Tarnopolsky MA, Martin JA, Rodriguez AR.

Can J Ophthalmol. 2020 Feb;55(1):e26-e28. doi: 10.1016/j.jcjo.2019.07.001. Epub 2019 Aug 9. No abstract available.

PMID:
31712030
8.
9.

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy.

Hannah-Shmouni F, MacNeil L, Brady L, Nilsson MI, Tarnopolsky M.

Front Neurol. 2019 Oct 4;10:981. doi: 10.3389/fneur.2019.00981. eCollection 2019.

10.

Effect of short-term, high-intensity exercise training on human skeletal muscle citrate synthase maximal activity: single versus multiple bouts per session.

MacInnis MJ, Skelly LE, Godkin FE, Martin BJ, Tripp TR, Tarnopolsky MA, Gibala MJ.

Appl Physiol Nutr Metab. 2019 Dec;44(12):1391-1394. doi: 10.1139/apnm-2019-0403. Epub 2019 Oct 16.

PMID:
31618598
11.

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Heighton JN, Brady LI, Sadikovic B, Bulman DE, Tarnopolsky MA.

Mitochondrion. 2019 Nov;49:227-231. doi: 10.1016/j.mito.2019.09.002. Epub 2019 Sep 12.

PMID:
31521625
12.

Statin administration activates system xC- in skeletal muscle: a potential mechanism explaining statin-induced muscle pain.

Rebalka IA, Cao AW, May LL, Tarnopolsky MA, Hawke TJ.

Am J Physiol Cell Physiol. 2019 Nov 1;317(5):C894-C899. doi: 10.1152/ajpcell.00308.2019. Epub 2019 Sep 11.

PMID:
31509447
13.

Neurodevelopmental and associated changes in a patient with Xp22.31 duplication.

MacColl C, Stein N, Tarnopolsky M, Lu JQ.

Neurol Sci. 2020 Mar;41(3):713-716. doi: 10.1007/s10072-019-04065-1. Epub 2019 Sep 5. No abstract available.

PMID:
31486937
14.

Obesity and muscle-macrophage crosstalk in humans and mice: A systematic review.

Rudrapatna S, Bhatt M, Wang KW, Bierbrier R, Wang PW, Banfield L, Elsheikh W, Sims ED, Peterson D, Thabane L, Tarnopolsky MA, Steinberg GR, Samaan MC.

Obes Rev. 2019 Nov;20(11):1572-1596. doi: 10.1111/obr.12922. Epub 2019 Aug 13. Review.

PMID:
31410961
15.

Nutrition and exercise in Pompe disease.

Tarnopolsky MA, Nilsson MI.

Ann Transl Med. 2019 Jul;7(13):282. doi: 10.21037/atm.2019.05.52. Review.

16.

Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK; Canadian Inherited Metabolic Diseases Research Network.

Can J Neurol Sci. 2019 Nov;46(6):717-726. doi: 10.1017/cjn.2019.240.

PMID:
31387656
17.
18.

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Zapata-Aldana E, McMillan HJ, Rupar T, Brunel-Guitton C, Chakraborty P, Mitchell JJ, Roth J, Tarnopolsky MA, Turner L, Campbell C.

Paediatr Child Health. 2019 Jul;24(4):270-271. doi: 10.1093/pch/pxy153. Epub 2019 May 8. No abstract available.

PMID:
31239817
19.

Paraspinal muscle ladybird homeobox 1 (LBX1) in adolescent idiopathic scoliosis: a cross-sectional study.

Jennings W, Hou M, Perterson D, Missiuna P, Thabane L, Tarnopolsky M, Samaan MC.

Spine J. 2019 Dec;19(12):1911-1916. doi: 10.1016/j.spinee.2019.06.014. Epub 2019 Jun 14.

PMID:
31202838
20.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Jun 6;104(6):1251. doi: 10.1016/j.ajhg.2019.05.009. No abstract available.

21.

Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy.

Lu JQ, Mubaraki A, Yan C, Provias J, Tarnopolsky MA.

J Neuropathol Exp Neurol. 2019 Jun 1;78(6):508-514. doi: 10.1093/jnen/nlz029.

PMID:
31100146
22.

Mitochondria and Aging-The Role of Exercise as a Countermeasure.

Nilsson MI, Tarnopolsky MA.

Biology (Basel). 2019 May 11;8(2). pii: E40. doi: 10.3390/biology8020040. Review.

23.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. No abstract available.

24.

A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.

Lochmüller H, Behin A, Caraco Y, Lau H, Mirabella M, Tournev I, Tarnopolsky M, Pogoryelova O, Woods C, Lai A, Shah J, Koutsoukos T, Skrinar A, Mansbach H, Kakkis E, Mozaffar T.

Neurology. 2019 Apr 30;92(18):e2109-e2117. doi: 10.1212/WNL.0000000000006932. Epub 2019 Jan 25.

25.

Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C).

Tarnopolsky M, Brady L, MacNeil L.

Mitochondrion. 2019 Jul;47:139-140. doi: 10.1016/j.mito.2019.04.003. Epub 2019 Apr 23.

PMID:
31026515
26.

Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis.

Amlani A, Choi MY, Tarnopolsky M, Brady L, Clarke AE, Garcia-De La Torre I, Mahler M, Schmeling H, Barber CE, Jung M, Fritzler MJ.

Front Immunol. 2019 Apr 9;10:745. doi: 10.3389/fimmu.2019.00745. eCollection 2019.

27.

Nutrition for Ultramarathon Running: Trail, Track, and Road.

Costa RJS, Knechtle B, Tarnopolsky M, Hoffman MD.

Int J Sport Nutr Exerc Metab. 2019 Mar 1;29(2):130-140. doi: 10.1123/ijsnem.2018-0255. Epub 2019 Apr 3. Review.

PMID:
30943823
28.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA.

Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Erratum in: Am J Hum Genet. 2019 Jun 6;104(6):1251.

29.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B.

Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28.

30.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 May 2;104(5):1007.

31.

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.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
32.

Lifelong aerobic exercise protects against inflammaging and cancer.

Nilsson MI, Bourgeois JM, Nederveen JP, Leite MR, Hettinga BP, Bujak AL, May L, Lin E, Crozier M, Rusiecki DR, Moffatt C, Azzopardi P, Young J, Yang Y, Nguyen J, Adler E, Lan L, Tarnopolsky MA.

PLoS One. 2019 Jan 25;14(1):e0210863. doi: 10.1371/journal.pone.0210863. eCollection 2019.

33.

ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.

Chang A, Ruiz-Lopez M, Slow E, Tarnopolsky M, Lang AE, Munhoz RP.

Mov Disord Clin Pract. 2018 Oct 9;5(6):635-639. doi: 10.1002/mdc3.12667. eCollection 2018 Nov-Dec.

34.

Nutrition for Special Populations: Young, Female, and Masters Athletes.

Desbrow B, Burd NA, Tarnopolsky M, Moore DR, Elliott-Sale KJ.

Int J Sport Nutr Exerc Metab. 2019 Mar 1;29(2):220-227. doi: 10.1123/ijsnem.2018-0269. Epub 2019 Feb 15. Review.

PMID:
30632423
35.

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A.

J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11.

36.

Clinical features related to statin-associated muscle symptoms.

Ochs-Balcom HM, Nguyen LM, Ma C, Isackson PJ, Luzum JA, Kitzmiller JP, Tarnopolsky M, Weisman M, Christopher-Stine L, Peltier W, Wortmann RL, Vladutiu GD.

Muscle Nerve. 2019 May;59(5):537-543. doi: 10.1002/mus.26397. Epub 2019 Jan 11.

PMID:
30549046
37.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

38.

Myopathies Related to Glycogen Metabolism Disorders.

Tarnopolsky MA.

Neurotherapeutics. 2018 Oct;15(4):915-927. doi: 10.1007/s13311-018-00684-2. Review.

39.

Novel Association of a De Novo CALM2 Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy.

Zahavich L, Tarnopolsky M, Yao R, Mital S.

Circ Genom Precis Med. 2018 Oct;11(10):e002255. doi: 10.1161/CIRCGEN.118.002255. No abstract available.

PMID:
30354306
40.

Novel heterozygous mutations in the PGAM2 gene with negative exercise testing.

Sidhu M, Brady L, Vladutiu GD, Tarnopolsky MA.

Mol Genet Metab Rep. 2018 Oct 9;17:53-55. doi: 10.1016/j.ymgmr.2018.09.009. eCollection 2018 Dec.

41.

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Whitley BN, Lam C, Cui H, Haude K, Bai R, Escobar L, Hamilton A, Brady L, Tarnopolsky MA, Dengle L, Picker J, Lincoln S, Lackner LL, Glass IA, Hoppins S.

Hum Mol Genet. 2018 Nov 1;27(21):3710-3719. doi: 10.1093/hmg/ddy287.

42.

Blunted satellite cell response is associated with dysregulated IGF-1 expression after exercise with age.

Moore DR, McKay BR, Tarnopolsky MA, Parise G.

Eur J Appl Physiol. 2018 Oct;118(10):2225-2231. doi: 10.1007/s00421-018-3954-4. Epub 2018 Jul 31.

PMID:
30062517
43.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J.

Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14.

44.

Altered mitochondrial bioenergetics and ultrastructure in the skeletal muscle of young adults with type 1 diabetes.

Monaco CMF, Hughes MC, Ramos SV, Varah NE, Lamberz C, Rahman FA, McGlory C, Tarnopolsky MA, Krause MP, Laham R, Hawke TJ, Perry CGR.

Diabetologia. 2018 Jun;61(6):1411-1423. doi: 10.1007/s00125-018-4602-6. Epub 2018 Apr 18. Erratum in: Diabetologia. 2020 Apr;63(4):887-888.

PMID:
29666899
45.

Exercise increases mitochondrial PGC-1 α content and promotes nuclear-mitochondrial cross-talk to coordinate mitochondrial biogenesis.

Safdar A, Little JP, Stokl AJ, Hettinga BP, Akhtar M, Tarnopolsky MA.

J Biol Chem. 2018 Mar 30;293(13):4953. doi: 10.1074/jbc.EC118.002682. No abstract available.

46.

The prognosis for glycemic status among children and youth with obesity 2 years after entering a weight management program.

Al Khalifah R, Thabane L, Tarnopolsky MA, Morrison KM.

Pediatr Diabetes. 2018 Aug;19(5):874-881. doi: 10.1111/pedi.12675. Epub 2018 Apr 17.

PMID:
29577539
47.

CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation.

Tarnopolsky MA, Sundaram ANE, Provias J, Brady L, Sadikovic B.

Mitochondrion. 2019 May;46:69-72. doi: 10.1016/j.mito.2018.02.008. Epub 2018 Mar 6.

PMID:
29501485
48.

Skeletal muscle fiber-type-specific changes in markers of capillary and mitochondrial content after low-volume interval training in overweight women.

Tan R, Nederveen JP, Gillen JB, Joanisse S, Parise G, Tarnopolsky MA, Gibala MJ.

Physiol Rep. 2018 Mar;6(5). doi: 10.14814/phy2.13597.

49.

Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation.

Brady L, Sadikovic B, Rupar CA, Tarnopolsky MA.

Mitochondrion. 2019 Mar;45:18-21. doi: 10.1016/j.mito.2018.01.010. Epub 2018 Feb 1.

PMID:
29408632
50.

Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.

Wu L, Brady L, Shoffner J, Tarnopolsky MA.

Can J Neurol Sci. 2018 May;45(3):262-268. doi: 10.1017/cjn.2017.286. Epub 2018 Jan 31.

PMID:
29382405

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