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No effect of triheptanoin on exercise performance in McArdle disease.

Madsen KL, Laforêt P, Buch AE, Stemmerik MG, Ottolenghi C, Hatem SN, Raaschou-Pedersen DT, Poulsen NS, Atencio M, Luton MP, Ceccaldi A, Haller RG, Quinlivan R, Mochel F, Vissing J.

Ann Clin Transl Neurol. 2019 Oct;6(10):1949-1960. doi: 10.1002/acn3.50863. Epub 2019 Sep 14.


Progressive exercise training improves maximal aerobic capacity in individuals with well-healed burn injuries.

Romero SA, Moralez G, Jaffery MF, Huang M, Cramer MN, Romain N, Kouda K, Haller RG, Crandall CG.

Am J Physiol Regul Integr Comp Physiol. 2019 Oct 1;317(4):R563-R570. doi: 10.1152/ajpregu.00201.2019. Epub 2019 Aug 21.


Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG.

Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15.


Acute loss of iron-sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells.

Crooks DR, Maio N, Lane AN, Jarnik M, Higashi RM, Haller RG, Yang Y, Fan TW, Linehan WM, Rouault TA.

J Biol Chem. 2018 May 25;293(21):8297-8311. doi: 10.1074/jbc.RA118.001885. Epub 2018 Mar 9.


Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM.

Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127.


Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.

Preisler N, Cohen J, Vissing CR, Madsen KL, Heinicke K, Sharp LJ, Phillips L, Romain N, Park SY, Newby M, Wyrick P, Mancias P, Galbo H, Vissing J, Haller RG.

Mol Genet Metab. 2017 Nov;122(3):117-121. doi: 10.1016/j.ymgme.2017.08.007. Epub 2017 Aug 25.


Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.

Delaney NF, Sharma R, Tadvalkar L, Clish CB, Haller RG, Mootha VK.

Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8402-8407. doi: 10.1073/pnas.1703338114. Epub 2017 Jul 17.


Use of antisense oligonucleotides to correct the splicing error in ISCU myopathy patient cell lines.

Holmes-Hampton GP, Crooks DR, Haller RG, Guo S, Freier SM, Monia BP, Rouault TA.

Hum Mol Genet. 2016 Dec 1;25(23):5178-5187. doi: 10.1093/hmg/ddw338.


Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.

Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW.

Am J Hum Genet. 2016 Jul 7;99(1):217-27. doi: 10.1016/j.ajhg.2016.05.021. Epub 2016 Jun 30.


Myopathy with Deficiency of ISCU.

Mochel F, Haller RG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2009 Mar 31 [updated 2016 Mar 3].


TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.

Powell CA, Kopajtich R, D'Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M.

Am J Hum Genet. 2015 Aug 6;97(2):319-28. doi: 10.1016/j.ajhg.2015.06.011. Epub 2015 Jul 16.


Lactate and Energy Metabolism During Exercise in Patients With Blocked Glycogenolysis (McArdle Disease).

Ørngreen MC, Jeppesen TD, Taivassalo T, Hauerslev S, Preisler N, Heinicke K, Haller RG, Vissing J, van Hall G.

J Clin Endocrinol Metab. 2015 Aug;100(8):E1096-104. doi: 10.1210/jc.2015-1339. Epub 2015 Jun 1.


Glycogen storage disease type III: the phenotype branches out.

Haller RG.

Neurology. 2015 Apr 28;84(17):1726-7. doi: 10.1212/WNL.0000000000001532. Epub 2015 Apr 1. No abstract available.


Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.

Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HA.

PLoS One. 2014 Dec 4;9(12):e114462. doi: 10.1371/journal.pone.0114462. eCollection 2014.


Exercise in muscle glycogen storage diseases.

Preisler N, Haller RG, Vissing J.

J Inherit Metab Dis. 2015 May;38(3):551-63. doi: 10.1007/s10545-014-9771-y. Epub 2014 Oct 18. Review.


Reproducibility and absolute quantification of muscle glycogen in patients with glycogen storage disease by 13C NMR spectroscopy at 7 Tesla.

Heinicke K, Dimitrov IE, Romain N, Cheshkov S, Ren J, Malloy CR, Haller RG.

PLoS One. 2014 Oct 8;9(10):e108706. doi: 10.1371/journal.pone.0108706. eCollection 2014.


Metabolic and mitochondrial myopathies.

Sharp LJ, Haller RG.

Neurol Clin. 2014 Aug;32(3):777-99, ix. doi: 10.1016/j.ncl.2014.05.001. Review.


The effect of rowing ergometry and resistive exercise on skeletal muscle structure and function during bed rest.

Krainski F, Hastings JL, Heinicke K, Romain N, Pacini EL, Snell PG, Wyrick P, Palmer MD, Haller RG, Levine BD.

J Appl Physiol (1985). 2014 Jun 15;116(12):1569-81. doi: 10.1152/japplphysiol.00803.2013. Epub 2014 May 1.


Elevated FGF21 secretion, PGC-1α and ketogenic enzyme expression are hallmarks of iron-sulfur cluster depletion in human skeletal muscle.

Crooks DR, Natarajan TG, Jeong SY, Chen C, Park SY, Huang H, Ghosh MC, Tong WH, Haller RG, Wu C, Rouault TA.

Hum Mol Genet. 2014 Jan 1;23(1):24-39. doi: 10.1093/hmg/ddt393. Epub 2013 Aug 13.


Mechanisms of exertional fatigue in muscle glycogenoses.

Vissing J, Haller RG.

Neuromuscul Disord. 2012 Dec;22 Suppl 3:S168-71. doi: 10.1016/j.nmd.2012.10.011. Review.


Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy.

Crooks DR, Jeong SY, Tong WH, Ghosh MC, Olivierre H, Haller RG, Rouault TA.

J Biol Chem. 2012 Nov 23;287(48):40119-30. doi: 10.1074/jbc.M112.418889. Epub 2012 Oct 3.


Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.

Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2012 Aug;22(8):690-8. doi: 10.1016/j.nmd.2012.04.003. Epub 2012 May 28.


Dynamic monitoring of carnitine and acetylcarnitine in the trimethylamine signal after exercise in human skeletal muscle by 7T 1H-MRS.

Ren J, Lakoski S, Haller RG, Sherry AD, Malloy CR.

Magn Reson Med. 2013 Jan;69(1):7-17. doi: 10.1002/mrm.24249. Epub 2012 Apr 3.


Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery.

Taivassalo T, Ayyad K, Haller RG.

Brain. 2012 Jan;135(Pt 1):53-61. doi: 10.1093/brain/awr293. Epub 2012 Jan 9.


Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms.

Heinicke K, Taivassalo T, Wyrick P, Wood H, Babb TG, Haller RG.

Am J Physiol Regul Integr Comp Physiol. 2011 Oct;301(4):R873-84. doi: 10.1152/ajpregu.00001.2011. Epub 2011 Aug 3.


Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.

Emmanuele V, Sotiriou E, Shirazi M, Tanji K, Haller RG, Heinicke K, Bosch PE, Hirano M, DiMauro S.

J Neurol Sci. 2011 Apr 15;303(1-2):39-42. doi: 10.1016/j.jns.2011.01.018. Epub 2011 Feb 15.


Energy deficit in Huntington disease: why it matters.

Mochel F, Haller RG.

J Clin Invest. 2011 Feb;121(2):493-9. doi: 10.1172/JCI45691. Epub 2011 Feb 1. Review.


A randomized clinical trial to assess the effect of statins on skeletal muscle function and performance: rationale and study design.

Thompson PD, Parker BA, Clarkson PM, Pescatello LS, White CM, Grimaldi AS, Levine BD, Haller RG, Hoffman EP.

Prev Cardiol. 2010 Summer;13(3):104-11. doi: 10.1111/j.1751-7141.2009.00063.x.


Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene.

Akman HO, Davidzon G, Tanji K, Macdermott EJ, Larsen L, Davidson MM, Haller RG, Szczepaniak LS, Lehman TJ, Hirano M, DiMauro S.

Neuromuscul Disord. 2010 Jun;20(6):397-402. doi: 10.1016/j.nmd.2010.04.004. Epub 2010 May 14.


Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery.

Crooks DR, Ghosh MC, Haller RG, Tong WH, Rouault TA.

Blood. 2010 Jan 28;115(4):860-9. doi: 10.1182/blood-2009-09-243105. Epub 2009 Nov 25.


Drilling for energy in mitochondrial disease.

Haller RG, Vissing J.

Arch Neurol. 2009 Aug;66(8):931-2. doi: 10.1001/archneurol.2009.155. No abstract available.


A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

Tyynismaa H, Ylikallio E, Patel M, Molnar MJ, Haller RG, Suomalainen A.

Am J Hum Genet. 2009 Aug;85(2):290-5. doi: 10.1016/j.ajhg.2009.07.009. Epub 2009 Aug 6.


Effect of changes in fat availability on exercise capacity in McArdle disease.

Andersen ST, Jeppesen TD, Taivassalo T, Sveen ML, Heinicke K, Haller RG, Vissing J.

Arch Neurol. 2009 Jun;66(6):762-6. doi: 10.1001/archneurol.2009.93.


Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.

Kramerova I, Kudryashova E, Wu B, Germain S, Vandenborne K, Romain N, Haller RG, Verity MA, Spencer MJ.

Hum Mol Genet. 2009 Sep 1;18(17):3194-205. doi: 10.1093/hmg/ddp257. Epub 2009 May 29.


Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

Vissing J, Duno M, Schwartz M, Haller RG.

Brain. 2009 Jun;132(Pt 6):1545-52. doi: 10.1093/brain/awp065. Epub 2009 May 11.


Fat metabolism during exercise in patients with mitochondrial disease.

Jeppesen TD, Orngreen MC, van Hall G, Haller RG, Vissing J.

Arch Neurol. 2009 Mar;66(3):365-70. doi: 10.1001/archneurol.2009.24.


Fat metabolism during exercise in patients with McArdle disease.

Ørngreen MC, Jeppesen TD, Andersen ST, Taivassalo T, Hauerslev S, Preisler N, Haller RG, van Hall G, Vissing J.

Neurology. 2009 Feb 24;72(8):718-24. doi: 10.1212/01.wnl.0000343002.74480.e4.


Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T.

Brain. 2008 Nov;131(Pt 11):2832-40. doi: 10.1093/brain/awn252.


Effect of oral sucrose shortly before exercise on work capacity in McArdle disease.

Andersen ST, Haller RG, Vissing J.

Arch Neurol. 2008 Jun;65(6):786-9. doi: 10.1001/archneur.65.6.786.


Fueling around with glycogen: the implications of muscle phosphorylase b kinase deficiency.

Haller RG.

Neurology. 2008 May 13;70(20):1872-3. doi: 10.1212/01.wnl.0000312284.43608.46. No abstract available.


A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.

Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65. Epub 2008 Apr 9.


Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein.

Son M, Leary SC, Romain N, Pierrel F, Winge DR, Haller RG, Elliott JL.

J Biol Chem. 2008 May 2;283(18):12267-75. doi: 10.1074/jbc.M708523200. Epub 2008 Mar 11.


Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.

Mochel F, Knight MA, Tong WH, Hernandez D, Ayyad K, Taivassalo T, Andersen PM, Singleton A, Rouault TA, Fischbeck KH, Haller RG.

Am J Hum Genet. 2008 Mar;82(3):652-60. doi: 10.1016/j.ajhg.2007.12.012. Epub 2008 Feb 14.


The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects.

Adhihetty PJ, Taivassalo T, Haller RG, Walkinshaw DR, Hood DA.

Am J Physiol Endocrinol Metab. 2007 Sep;293(3):E672-80. Epub 2007 Jun 5.


Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin.

Oktay Y, Dioum E, Matsuzaki S, Ding K, Yan LJ, Haller RG, Szweda LI, Garcia JA.

J Biol Chem. 2007 Apr 20;282(16):11750-6. Epub 2007 Feb 23.


Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, Haller RG, Turnbull DM.

Brain. 2006 Dec;129(Pt 12):3391-401. Epub 2006 Nov 3.


Aerobic conditioning: an effective therapy in McArdle's disease.

Haller RG, Wyrick P, Taivassalo T, Vissing J.

Ann Neurol. 2006 Jun;59(6):922-8.


Exercise and training in mitochondrial myopathies.

Taivassalo T, Haller RG.

Med Sci Sports Exerc. 2005 Dec;37(12):2094-101. Review.


Effect of fuels on exercise capacity in muscle phosphoglycerate mutase deficiency.

Vissing J, Quistorff B, Haller RG.

Arch Neurol. 2005 Sep;62(9):1440-3.


Implications of exercise training in mtDNA defects--use it or lose it?

Taivassalo T, Haller RG.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):221-31. Review.

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