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Research Output

2019

No effect of triheptanoin on exercise performance in McArdle disease

Madsen, K. L., Laforêt, P., Buch, A. E., Stemmerik, M. G., Ottolenghi, C., Hatem, S. N., Raaschou-Pedersen, D. T., Poulsen, N. S., Atencio, M., Luton, M. P., Ceccaldi, A., Haller, R. G., Quinlivan, R., Mochel, F. & Vissing, J., Oct 1 2019, In : Annals of Clinical and Translational Neurology. 6, 10, p. 1949-1960 12 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

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

Romero, S. A., Moralez, G., Jaffery, M. F., Huang, M., Cramer, M. N., Romain, N., Kouda, K., Haller, R. G. & Crandall, C. G., Oct 1 2019, In : American journal of physiology. Regulatory, integrative and comparative physiology. 317, 4, p. R563-R570

Research output: Contribution to journalArticle

Open Access
2018

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

Crooks, D. R., Maio, N., Lane, A. N., Jarnik, M., Higashi, R. M., Haller, R. G., Yang, Y., Fan, T. W. M., Marston Linehan, W. & Rouault, T. A., Jan 1 2018, In : Journal of Biological Chemistry. 293, 21, p. 8297-8311 15 p.

Research output: Contribution to journalReview article

17 Scopus citations

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

Vissing, J., Akman, H. O., Aasly, J., Kahler, S. G., Bacino, C. A., DiMauro, S. & Haller, R. G., Sep 11 2018, In : Neurology. 91, 11, p. e1077-e1082

Research output: Contribution to journalArticle

3 Scopus citations

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

Rocha, M. C., Rosa, H. S., Grady, J. P., Blakely, E. L., He, L., Romain, N., Haller, R. G., Newman, J., McFarland, R., Ng, Y. S., Gorman, G. S., Schaefer, A. M., Tuppen, H. A., Taylor, R. W. & Turnbull, D. M., Jan 1 2018, In : Annals of Neurology. 83, 1, p. 115-130 16 p.

Research output: Contribution to journalArticle

8 Scopus citations

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

on behalf of the Mito Working Group Member Participants, May 1 2017, In : Journal of Inherited Metabolic Disease. 40, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency

Preisler, N., Cohen, J., Vissing, C. R., Madsen, K. L., Heinicke, K., Sharp, L. J., Phillips, L., Romain, N., Park, S. Y., Newby, M., Wyrick, P., Mancias, P., Galbo, H., Vissing, J. & Haller, R. G., 2017, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

4 Scopus citations

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

Delaney, N. F., Sharma, R., Tadvalkar, L., Clish, C. B., Haller, R. G. & Mootha, V. K., Aug 1 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 31, p. 8402-8407 6 p.

Research output: Contribution to journalArticle

6 Scopus citations
2016

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

Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Oláhová, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., Yarham, J. W., He, L., De Paepe, B., Vanlander, A. V., Seneca, S., Feichtinger, R. G., Płoski, R., Rokicki, D. & 11 others, Pronicka, E., Haller, R. G., Van Hove, J. L. K., Bahlo, M., Mayr, J. A., Van Coster, R., Prokisch, H., Wittig, I., Ryan, M. T., Thorburn, D. R. & Taylor, R. W., Jul 7 2016, In : American Journal of Human Genetics. 99, 1, p. 217-227 11 p.

Research output: Contribution to journalArticle

18 Scopus citations

Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy)

Kramerova, I., Ermolova, N., Eskin, A., Hevener, A., Quehenberger, O., Armando, A. M., Haller, R., Romain, N., Nelson, S. F. & Spencer, M. J., Jun 1 2016, In : Human Molecular Genetics. 25, 11, p. 2194-2207 14 p.

Research output: Contribution to journalArticle

9 Scopus citations

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

Holmes-Hampton, G. P., Crooks, D. R., Haller, R. G., Guo, S., Freier, S. M., Monia, B. P. & Rouault, T. A., 2016, In : Human Molecular Genetics. 25, 23, p. 5178-5187 10 p.

Research output: Contribution to journalArticle

4 Scopus citations
2015

Glycogen storage disease type III: The phenotype branches out

Haller, R. G., Apr 28 2015, In : Neurology. 84, 17, p. 1726-1727 2 p.

Research output: Contribution to journalArticle

1 Scopus citations

Lactate and energy metabolism during exercise in patients with blocked glycogenolysis (McArdle disease)

Ørngreen, M. C., Jeppesen, T. D., Taivassalo, T., Hauerslev, S., Preisler, N., Heinicke, K., Haller, R. G., Vissing, J. & Van Hall, G., Aug 1 2015, In : Journal of Clinical Endocrinology and Metabolism. 100, 8, p. E1096-E1104

Research output: Contribution to journalArticle

3 Scopus citations

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

Powell, C. A., Kopajtich, R., D'Souza, A. R., Rorbach, J., Kremer, L. S., Husain, R. A., Dallabona, C., Donnini, C., Alston, C. L., Griffin, H., Pyle, A., Chinnery, P. F., Strom, T. M., Meitinger, T., Rodenburg, R. J., Schottmann, G., Schuelke, M., Romain, N., Haller, R. G., Ferrero, I. & 4 others, Haack, T. B., Taylor, R. W., Prokisch, H. & Minczuk, M., Aug 6 2015, In : American Journal of Human Genetics. 97, 2, p. 319-328 10 p., 1910.

Research output: Contribution to journalArticle

32 Scopus citations
2014

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

Grady, J. P., Murphy, J. L., Blakely, E. L., Haller, R. G., Taylor, R. W., Turnbull, D. M. & Tuppen, H. A. L., Dec 4 2014, In : PloS one. 9, 12, e114462.

Research output: Contribution to journalArticle

20 Scopus citations

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

Crooks, D. R., Natarajan, T. G., Jeong, S. Y., Chen, C., Park, S. Y., Huang, H., Ghosh, M. C., Tong, W. H., Haller, R. G., Wu, C. & Rouault, T. A., Jan 1 2014, In : Human molecular genetics. 23, 1, p. 24-39 16 p., ddt393.

Research output: Contribution to journalArticle

43 Scopus citations

Exercise in muscle glycogen storage diseases

Preisler, N., Haller, R. G. & Vissing, J., Oct 18 2014, In : Journal of Inherited Metabolic Disease. 38, 3, p. 551-563 13 p.

Research output: Contribution to journalArticle

11 Scopus citations

Metabolic and mitochondrial myopathies

Sharp, L. J. & Haller, R. G., Aug 2014, In : Neurologic Clinics. 32, 3, p. 777-799 23 p.

Research output: Contribution to journalReview article

27 Scopus citations

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

Heinicke, K., Dimitrov, I. E., Romain, N., Cheshkov, S., Ren, J., Malloy, C. R. & Haller, R. G., Oct 8 2014, In : PloS one. 9, 10, e108706.

Research output: Contribution to journalArticle

8 Scopus citations

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

Krainski, F., Hastings, J. L., Heinicke, K., Romain, N., Pacini, E. L., Snell, P. G., Wyrick, P., Palmer, M. D., Haller, R. G. & Levine, B. D., Jun 15 2014, In : Journal of applied physiology. 116, 12, p. 1569-1581 13 p.

Research output: Contribution to journalArticle

13 Scopus citations
2013
20 Scopus citations
2012

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

Murphy, J. L., Ratnaike, T. E., Shang, E., Falkous, G., Blakely, E. L., Alston, C. L., Taivassalo, T., Haller, R. G., Taylor, R. W. & Turnbull, D. M., Aug 1 2012, In : Neuromuscular Disorders. 22, 8, p. 690-698 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

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

Taivassalo, T., Ayyad, K. & Haller, R. G., Jan 2012, In : Brain. 135, 1, p. 53-61 9 p.

Research output: Contribution to journalArticle

16 Scopus citations

Mechanisms of exertional fatigue in muscle glycogenoses

Vissing, J. & Haller, R. G., Dec 1 2012, In : Neuromuscular Disorders. 22, SUPPL. 3, p. S168-S171

Research output: Contribution to journalArticle

9 Scopus citations

Metabolic and mitochondrial myopathies

Haller, R. G. & DiMauro, S., Dec 1 2012, Muscle. Elsevier Inc., Vol. 2. p. 1031-1041 11 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations

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, D. R., Jeong, S. Y., Tong, W. H., Ghosh, M. C., Olivierre, H., Haller, R. G. & Rouault, T. A., Nov 23 2012, In : Journal of Biological Chemistry. 287, 48, p. 40119-40130 12 p.

Research output: Contribution to journalArticle

31 Scopus citations
2011

Energy deficit in Huntington disease: Why it matters

Mochel, F. & Haller, R. G., Feb 1 2011, In : Journal of Clinical Investigation. 121, 2, p. 493-499 7 p.

Research output: Contribution to journalReview article

123 Scopus citations

Exertional dyspnea in mitochondrial myopathy: Clinical features and physiological mechanisms

Heinicke, K., Taivassalo, T., Wyrick, P., Wood, H., Babb, T. G. & Haller, R. G., Oct 1 2011, In : American Journal of Physiology - Regulatory Integrative and Comparative Physiology. 301, 4, p. R873-R884

Research output: Contribution to journalArticle

14 Scopus citations

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation

Emmanuele, V., Sotiriou, E., Shirazi, M., Tanji, K., Haller, R. G., Heinicke, K., Bosch, P. E., Hirano, M. & Dimauro, S., Apr 15 2011, In : Journal of the Neurological Sciences. 303, 1-2, p. 39-42 4 p.

Research output: Contribution to journalArticle

9 Scopus citations
2010

A Randomized Clinical Trial to Assess the Effect of Statins on Skeletal Muscle Function and Performance: Rationale and Study Design

Thompson, P. D., Parker, B. A., Clarkson, P. M., Pescatello, L. S., Michael White, C., Grimaldi, A. S., Levine, B. D., Haller, R. G. & Hoffman, E. P., Jun 1 2010, In : Preventive Cardiology. 13, 3, p. 104-111 8 p.

Research output: Contribution to journalArticle

31 Scopus citations

Glycogen Storage Disease Type III diagnosis and management guidelines

Kishnani, P. S., Austin, S. L., Arn, P., Bali, D. S., Boney, A., Case, L. E., Chung, W. K., Desai, D. M., El-Gharbawy, A., Haller, R., Smit, G. P. A., Smith, A. D., Hobson-Webb, L. D., Wechsler, S. B., Weinstein, D. A. & Watson, M. S., Jul 1 2010, In : Genetics in Medicine. 12, 7, p. 446-463 18 p.

Research output: Contribution to journalReview article

122 Scopus citations

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

Akman, H. O., Davidzon, G., Tanji, K., MacDermott, E. J., Larsen, L., Davidson, M. M., Haller, R. G., Szczepaniak, L. S., Lehman, T. J. A., Hirano, M. & DiMauro, S., Jun 1 2010, In : Neuromuscular Disorders. 20, 6, p. 397-402 6 p.

Research output: Contribution to journalArticle

39 Scopus citations

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

Crooks, D. R., Ghosh, M. C., Haller, R. G., Tong, W. H. & Rouault, T. A., Jan 28 2010, In : Blood. 115, 4, p. 860-869 10 p.

Research output: Contribution to journalArticle

58 Scopus citations
2009

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G. & Suomalainen, A., Aug 14 2009, In : American Journal of Human Genetics. 85, 2, p. 290-295 6 p.

Research output: Contribution to journalArticle

94 Scopus citations

Drilling for energy in mitochondrial disease

Haller, R. G. & Vissing, J., Aug 1 2009, In : Archives of neurology. 66, 8, p. 931-932 2 p.

Research output: Contribution to journalEditorial

5 Scopus citations

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

Andersen, S. T., Jeppesen, T. D., Taivassalo, T., Sveen, M. L., Heinicke, K., Haller, R. G. & Vissing, J., Jun 1 2009, In : Archives of neurology. 66, 6, p. 762-766 5 p.

Research output: Contribution to journalArticle

15 Scopus citations

Fat metabolism during exercise in patients with McArdle disease

Ørngreen, M. C., Jeppesen, T. D., Andersen, S. T., Taivassalo, T., Hauerslev, S., Preisler, N., Haller, R. G., Van Hall, G. & Vissing, J., Jul 24 2009, In : Neurology. 72, 8, p. 718-724 7 p.

Research output: Contribution to journalArticle

35 Scopus citations

Fat metabolism during exercise in patients with mitochondrial disease

Jeppesen, T. D., Ørngreen, M. C., Van Hall, G., Haller, R. G. & Vissing, J., Mar 1 2009, In : Archives of neurology. 66, 3, p. 365-370 6 p.

Research output: Contribution to journalArticle

9 Scopus citations

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, R. G., Verity, M. A. & Spencer, M. J., Aug 20 2009, In : Human molecular genetics. 18, 17, p. 3194-3205 12 p.

Research output: Contribution to journalArticle

34 Scopus citations

Muscle fatigue in metabolic myopathies

Haller, R. G. & Vissing, J., Jun 15 2009, Human Muscle Fatigue. Routledge Taylor & Francis Group, p. 338-359 22 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

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

Vissing, J., Duno, M., Schwartz, M. & Haller, R. G., Jun 2009, In : Brain. 132, 6, p. 1545-1552 8 p.

Research output: Contribution to journalArticle

35 Scopus citations
2008

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

Swalwell, H., Blakely, E. L., Sutton, R., Tonska, K., Elstner, M., He, L., Taivassalo, T., Burns, D. K., Turnbull, D. M., Haller, R. G., Davidson, M. M. & Taylor, R. W., Oct 10 2008, In : European Journal of Human Genetics. 16, 10, p. 1265-1274 10 p.

Research output: Contribution to journalArticle

27 Scopus citations

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

Andersen, S. T., Haller, R. G. & Vissing, J., Jun 1 2008, In : Archives of neurology. 65, 6, p. 786-789 4 p.

Research output: Contribution to journalArticle

51 Scopus citations

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

Haller, R. G., May 2008, In : Neurology. 70, 20, p. 1872-1873 2 p.

Research output: Contribution to journalEditorial

3 Scopus citations

Isolated cytochrome C oxidase deficiency in G93A SOD1 mice overexpressing CCS protein

Son, M., Leary, S. C., Romain, N., Pierrel, F., Winge, D. R., Haller, R. G. & Elliott, J. L., May 2 2008, In : Journal of Biological Chemistry. 283, 18, p. 12267-12275 9 p.

Research output: Contribution to journalArticle

33 Scopus citations

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

Murphy, J. L., Blakely, E. L., Schaefer, A. M., He, L., Wyrick, P., Haller, R. G., Taylor, R. W., Turnbull, D. M. & Taivassalo, T., Nov 2008, In : Brain. 131, 11, p. 2832-2840 9 p.

Research output: Contribution to journalArticle

105 Scopus citations

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Mochel, F., Knight, M. A., Tong, W. H., Hernandez, D., Ayyad, K., Taivassalo, T., Andersen, P. M., Singleton, A., Rouault, T. A., Fischbeck, K. H. & Haller, R. G., Mar 3 2008, In : American Journal of Human Genetics. 82, 3, p. 652-660 9 p.

Research output: Contribution to journalArticle

149 Scopus citations
2007

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

Oktay, Y., Dioum, E., Matsuzaki, S., Ding, K., Yan, L. J., Haller, R. G., Szweda, L. I. & Garcia, J. A., Apr 20 2007, In : Journal of Biological Chemistry. 282, 16, p. 11750-11756 7 p.

Research output: Contribution to journalArticle

63 Scopus citations

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

Adhihetty, P. J., Taivassalo, T., Haller, R. G., Walkinshaw, D. R. & Hood, D. A., Sep 1 2007, In : American Journal of Physiology - Endocrinology and Metabolism. 293, 3, p. E672-E680

Research output: Contribution to journalArticle

43 Scopus citations