Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 473

1.

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

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

Mitochondrion. 2019 Sep 12. pii: S1567-7249(18)30096-5. doi: 10.1016/j.mito.2019.09.002. [Epub ahead of print]

PMID:
31521625
2.

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

Rebalka IA, Cao AW, May L, Tarnopolsky MA, Hawke TJ Ph.D.

Am J Physiol Cell Physiol. 2019 Sep 11. doi: 10.1152/ajpcell.00308.2019. [Epub ahead of print]

PMID:
31509447
3.

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

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

Neurol Sci. 2019 Sep 5. doi: 10.1007/s10072-019-04065-1. [Epub ahead of print] No abstract available.

PMID:
31486937
4.

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 Aug 13. doi: 10.1111/obr.12922. [Epub ahead of print] Review.

PMID:
31410961
5.

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.

6.

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 Aug 7:1-29. doi: 10.1017/cjn.2019.240. [Epub ahead of print] No abstract available.

PMID:
31387656
7.
8.

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
9.

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 Jun 14. pii: S1529-9430(19)30809-5. doi: 10.1016/j.spinee.2019.06.014. [Epub ahead of print]

PMID:
31202838
10.

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.

11.

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
12.

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.

13.

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.

14.

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.

15.

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
16.

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.

17.

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
18.

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.

PMID:
30929741
19.

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.

PMID:
30929737
20.

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.

21.

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
22.

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.

23.

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.

PMID:
30637285
24.

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
25.

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.

26.

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
27.

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.

28.

Myopathies Related to Glycogen Metabolism Disorders.

Tarnopolsky MA.

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

PMID:
30397902
29.

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
30.

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.

31.

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.

PMID:
30085106
32.

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
33.

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.

34.

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.

PMID:
29666899
35.

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.

36.

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
37.

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
38.

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.

39.

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
40.

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
41.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

42.

Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort.

Heighton JN, Brady LI, Newman MC, Tarnopolsky MA.

Mitochondrion. 2019 Jan;44:15-19. doi: 10.1016/j.mito.2017.12.006. Epub 2017 Dec 12.

PMID:
29246868
43.

POLR3A variants in hereditary spastic paraplegia and ataxia.

Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.

Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290. No abstract available.

44.

Response to Newman et al.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF.

Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. No abstract available.

PMID:
29215644
45.

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.

Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ.

JIMD Rep. 2018;42:9-17. doi: 10.1007/8904_2017_70. Epub 2017 Nov 21.

46.

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Zillikens MC, Demissie S, Hsu YH, Yerges-Armstrong LM, Chou WC, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, Kutalik Z, Luan J, Malkin I, Ried JS, Smith AV, Thorleifsson G, Vandenput L, Hua Zhao J, Zhang W, Aghdassi A, Åkesson K, Amin N, Baier LJ, Barroso I, Bennett DA, Bertram L, Biffar R, Bochud M, Boehnke M, Borecki IB, Buchman AS, Byberg L, Campbell H, Campos Obanda N, Cauley JA, Cawthon PM, Cederberg H, Chen Z, Cho NH, Jin Choi H, Claussnitzer M, Collins F, Cummings SR, De Jager PL, Demuth I, Dhonukshe-Rutten RAM, Diatchenko L, Eiriksdottir G, Enneman AW, Erdos M, Eriksson JG, Eriksson J, Estrada K, Evans DS, Feitosa MF, Fu M, Garcia M, Gieger C, Girke T, Glazer NL, Grallert H, Grewal J, Han BG, Hanson RL, Hayward C, Hofman A, Hoffman EP, Homuth G, Hsueh WC, Hubal MJ, Hubbard A, Huffman KM, Husted LB, Illig T, Ingelsson E, Ittermann T, Jansson JO, Jordan JM, Jula A, Karlsson M, Khaw KT, Kilpeläinen TO, Klopp N, Kloth JSL, Koistinen HA, Kraus WE, Kritchevsky S, Kuulasmaa T, Kuusisto J, Laakso M, Lahti J, Lang T, Langdahl BL, Launer LJ, Lee JY, Lerch MM, Lewis JR, Lind L, Lindgren C, Liu Y, Liu T, Liu Y, Ljunggren Ö, Lorentzon M, Luben RN, Maixner W, McGuigan FE, Medina-Gomez C, Meitinger T, Melhus H, Mellström D, Melov S, Michaëlsson K, Mitchell BD, Morris AP, Mosekilde L, Newman A, Nielson CM, O'Connell JR, Oostra BA, Orwoll ES, Palotie A, Parker SCJ, Peacock M, Perola M, Peters A, Polasek O, Prince RL, Räikkönen K, Ralston SH, Ripatti S, Robbins JA, Rotter JI, Rudan I, Salomaa V, Satterfield S, Schadt EE, Schipf S, Scott L, Sehmi J, Shen J, Soo Shin C, Sigurdsson G, Smith S, Soranzo N, Stančáková A, Steinhagen-Thiessen E, Streeten EA, Styrkarsdottir U, Swart KMA, Tan ST, Tarnopolsky MA, Thompson P, Thomson CA, Thorsteinsdottir U, Tikkanen E, Tranah GJ, Tuomilehto J, van Schoor NM, Verma A, Vollenweider P, Völzke H, Wactawski-Wende J, Walker M, Weedon MN, Welch R, Wichmann HE, Widen E, Williams FMK, Wilson JF, Wright NC, Xie W, Yu L, Zhou Y, Chambers JC, Döring A, van Duijn CM, Econs MJ, Gudnason V, Kooner JS, Psaty BM, Spector TD, Stefansson K, Rivadeneira F, Uitterlinden AG, Wareham NJ, Ossowski V, Waterworth D, Loos RJF, Karasik D, Harris TB, Ohlsson C, Kiel DP.

Nat Commun. 2017 Nov 7;8(1):1414. doi: 10.1038/s41467-017-01008-2.

47.

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis.

Tarnopolsky MA, Brady L, Tetreault M; Care4Rare Canada Consortium.

Neurology. 2017 Nov 21;89(21):2210-2211. doi: 10.1212/WNL.0000000000004657. Epub 2017 Oct 11. No abstract available.

48.

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants.

J Inherit Metab Dis. 2018 Jan;41(1):151. doi: 10.1007/s10545-017-0081-z. No abstract available.

PMID:
28980269
49.

Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome.

Sidhu M, Brady L, Tarnopolsky M, Ronen GM.

Pediatr Neurol. 2017 Nov;76:82-85. doi: 10.1016/j.pediatrneurol.2017.07.010. Epub 2017 Jul 19.

PMID:
28967461
50.

Optimizing the methodology for measuring supraclavicular skin temperature using infrared thermography; implications for measuring brown adipose tissue activity in humans.

Haq T, Crane JD, Kanji S, Gunn E, Tarnopolsky MA, Gerstein HC, Steinberg GR, Morrison KM.

Sci Rep. 2017 Sep 20;7(1):11934. doi: 10.1038/s41598-017-11537-x.

Supplemental Content

Loading ...
Support Center