Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

Elevation of creatine in resting and exercised muscle of normal subjects by creatine supplementation

Harris, R. C., Söderlund, K., & Hultman, E. (1992) · Clinical Science · doi:10.1042/cs0830367 · Cited by 1,168

Isoprostanes: markers and mediators of oxidative stress

Montuschi, P., Barnes, P. J., & Roberts, L. J. (2004) · The FASEB Journal · doi:10.1096/fj.04-2330rev · Cited by 747

Lipoic Acid as a Potential Therapy for Chronic Diseases Associated with Oxidative Stress

Smith, A. R. W., Shenvi, S. V., Widlansky, M. E., Suh, J.-I., & Hagen, T. M. (2004) · Current Medicinal Chemistry · doi:10.2174/0929867043365387 · Cited by 461

Direct antioxidant properties of creatine

Lawler, J. M., Barnes, W. S., Wu, G., Song, W., & Demaree, S. (2002) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2001.6164 · Cited by 448

F 2 -Isoprostanes as markers of oxidative stress in vivo : An overview

Milne, G. L., Musiek, E. S., & Morrow, J. D. (2005) · Biomarkers · doi:10.1080/13547500500216546 · Cited by 323

Creatine Supplementation Enhances Isometric Strength and Body Composition Improvements Following Strength Exercise Training in Older Adults

Brose, A., Parise, G., & Tarnopolsky, M. A. (2003) · The Journals of Gerontology Series A: Biological Sciences and Medical Sciences · doi:10.1093/gerona/58.1.b11 · Cited by 274

A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies

Tarnopolsky, M. A., Roy, B. D., & MacDonald, J. R. (1997) · Muscle & Nerve · doi:10.1002/(sici)1097-4598(199712)20:12 · Cited by 246

Potential for creatine and other therapies targeting cellular energy dysfunction in neurological disorders

Tarnopolsky, M. A., & Beal, M. F. (2001) · Annals of Neurology · doi:10.1002/ana.1028 · Cited by 244

Isoprostanes and related products of lipid peroxidation in neurodegenerative diseases

Montine, K. S., Quinn, J. F., Zhang, J., Fessel, J. P., Roberts, L. J., Morrow, J. D., & Montine, T. J. (2003) · Chemistry and Physics of Lipids · doi:10.1016/j.chemphyslip.2003.10.010 · Cited by 242

Creatine supplementation affords cytoprotection in oxidatively injured cultured mammalian cells via direct antioxidant activity

Sestili, P., Martinelli, C., Bravi, G., Piccoli, G., Curci, R., Battistelli, M., Falcieri, E., Agostini, D., Gioacchini, A. M., & Stocchi, V. (2006) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2005.10.035 · Cited by 220

Ocular Manifestations of Inborn Errors of Metabolism

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Updates on Mitochondrial Myopathies

Barca, E., & Emmanuele, V. (2025) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-025-01444-4 · Cited by 3

Micronutrient Deficiencies and Mitochondrial Dysfunction

Marrs, C. (2015) · CRC Press eBooks · doi:10.1201/b19089-8 · Cited by 3

CURE ID : A Platform to Collect Real‐World Treatment Data for Drug Repurposing in Rare Genetic Disorders

Farid, T., Ruzhnikov, M. R. Z., Duggal, M., Tumas, K. C., Strongin, S. R., Sid, E., Fuchs, S. R., Sacks, L. V., Pichard, D. C., Pilgrim-Grayson, C., et al. (2025) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.32153 · Cited by 3

Primary Mitochondrial Disorders in the Neonate

Starosta, R. T., & Shinawi, M. S. (2022) · NeoReviews · doi:10.1542/neo.23-12-e796 · Cited by 3

Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study

Russell, B. S., Hosek, R. S., Hoiriis, K. T., & Drake, E. D. (2019) · Journal of Chiropractic Medicine · doi:10.1016/j.jcm.2018.11.004 · Cited by 3

Stroke-Like Episodes in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Sproule, D. M., Wong, L. J., Hirano, M., & Pavlakis, S. G. (2012) · Springer eBooks · doi:10.1007/978-0-85729-209-4_8 · Cited by 3

A Multi-Ingredient Supplement Improves Body Re-Composition, Ovarian Aging Markers, and Reproductive Success in Young and Middle-Aged Female Mice

Chiarot, A., Minhas, M., de Maat, N. M., Doan, J., Nilsson, M. I., Hettinga, B. P., Faghih, M., Neal, M. S., Nederveen, J. P., & Tarnopolsky, M. A. (2025) · Biomolecules · doi:10.3390/biom15091258 · Cited by 2

A Longitudinal NMR‐Based Metabolomics Highlights Shared Mechanisms of Pathophysiology in ARDS Patients With and Without Sepsis

Singh, A., Siddiqui, M. A., Azim, A., & Sinha, N. (2025) · Magnetic Resonance in Chemistry · doi:10.1002/mrc.70032 · Cited by 2

Asymmetric Synthesis, Structure Determination, and Biologic Evaluation of Isomers of TLAM as PFK1 Inhibitors

Kakehi, R., Kobayashi, H., Mashiyama, H., Yajima, T., Koyama, H., Ito, T. K., Yoshida, M., Nagaoka, Y., & Sumiyoshi, T. (2024) · ACS Medicinal Chemistry Letters · doi:10.1021/acsmedchemlett.4c00436 · Cited by 2

Characterization of metabolism associated with outcomes in severe acute pancreatitis: Insights from serum metabolomic analysis

Siddiqui, M. A., Singh, A., Pandey, S., Siddiqui, M. H., Azim, A., & Sinha, N. (2025) · Biophysical Chemistry · doi:10.1016/j.bpc.2025.107436 · Cited by 3

Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber’s hereditary optic neuropathy patient-derived fibroblasts

Xhuti, D., Chiarot, A., Minhas, M., Tobia, S., de Maat, N. M., Manta, K., Ng, S. Y., Tarnopolsky, M. A., & Nederveen, J. P. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf125 · Cited by 3

Atteinte rétinienne et myopathies génétiques

Sacconi, S., Baillif, S., & Desnuelle, C. (2010) · Revue Neurologique · doi:10.1016/j.neurol.2010.09.001 · Cited by 2

Muscle Physiology in Healthy Men and Women and Those with Metabolic Myopathies

Devries, M. C., & Tarnopolsky, M. A. (2008) · Physical Medicine and Rehabilitation Clinics of North America · doi:10.1016/j.pmr.2008.10.011 · Cited by 2

Manganese and Huntington Disease

Tidball, A. M., Bichell, T. J., & Bowman, A. B. (2014) · Royal Society of Chemistry eBooks · doi:10.1039/9781782622383-00540 · Cited by 2

Perspectives of pharmacological correction and evaluation of mitochondrial dysfunction in neurodegenerative and ischemic brain lesions

Dmitry, P. I. (2021) · Studies in natural products chemistry · doi:10.1016/b978-0-12-819487-4.00018-5 · Cited by 2

Mitochondriale Erkrankungen – Ein Update zu Klinik, Diagnostik und Therapie

Stendel, C., Neuhofer, C. M., & Klopstock, T. (2022) · Neurologie up2date · doi:10.1055/a-1514-2141 · Cited by 2

Stroke-Like Episodes in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Lin, V. W., Sproule, D. M., Hirano, M., & Pavlakis, S. G. (2017) · Springer eBooks · doi:10.1007/978-3-319-56210-0_8 · Cited by 2

Clinical Validation of Digital PCR for Precise m.3243A>G Heteroplasmy Quantification in Early‐Onset Diabetes

Kong, X., Bei, L., Gao, P., Lu, L., Zhu, H., Jiang, Y., Zhao, M., Liu, Y., Wang, G., Li, M., et al. (2026) · Journal of Diabetes Research · doi:10.1155/jdr/9298888 · Cited by 1

Chronic Progressive External Ophthalmoplegia (CPEO)

Tarnopolsky, M. A. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800877-5.00006-1 · Cited by 1

MELAS Syndrome: An Uncommon Mitochondrial Inheritance

Christy, A. L., Rukmini, M. S., Manjrekar, P., & Babu, R. P. (2014) · Cited by 1

Die Kraftwerke der Zellen- über die Behandlung von psychiatrischen Symptomen bei Patienten mit Mitochondriopathien

Mörkl, S., Tmava‐Berisha, A., Blesl, C., Schmiedhofer, F., Wurm, W., Holl, A. K., & Painold, A. (2017) · Fortschritte der Neurologie · Psychiatrie · doi:10.1055/s-0043-113824 · Cited by 1

A 25-Year-Old Woman with Droopy Eyelids and Double Vision

Zhou, L., & Cai, C. (2019) · Springer eBooks · doi:10.1007/978-3-030-25682-1_15 · Cited by 1

Multi-Ingredient Supplement Supports Mitochondrial Health through Interleukin-15 Signaling in Older Adult Human Dermal Fibroblasts

Rebalka, I. A., May, L. L., Nederveen, J. P., & Tarnopolsky, M. A. (2022) · Cosmetics · doi:10.3390/cosmetics9030047 · Cited by 1

Metabolic Myopathies

Khadilkar, S. V., Yadav, R. S., & Patel, B. A. (2017) · Springer eBooks · doi:10.1007/978-981-10-5361-0_25 · Cited by 1

Miopatías metabólicas

Cortés, R., Kleinsteuber, K., Leal, C. P. V., & Avaria, M. D. L. Á. (2018) · Revista Médica Clínica Las Condes · doi:10.1016/j.rmclc.2018.09.004 · Cited by 1

Supporting Children With Mitochondrial Disorders

Haas, R., Hoy, L., & Berenhaut, E. (2014) · ICAN Infant Child & Adolescent Nutrition · doi:10.1177/1941406414531929 · Cited by 1

Potential Therapies for Mitochondrial Dysfunction

Henchcliffe, C., & Beal, M. F. (2011) · Springer eBooks · doi:10.1007/978-0-85729-701-3_13 · Cited by 1

Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase

Tarnopolsky, M. A., Kozenko, M., & Jones, K. (2019) · Journal of Child Neurology · doi:10.1177/0883073819881259 · Cited by 1

Characterization of Metabolism Associated with Outcomes in Severe Acute Pancreatitis: Insights from Serum Metabolomic AnalysisPreprint

Siddiqui, M. A., Singh, A., Pandey, S., Siddiqui, M. H., Azim, A., & Sinha, N. (2025) · SSRN Electronic Journal · doi:10.2139/ssrn.5111346 · Cited by 1

Polymeric membranes with selective permeability : shielding of an antioxidant enzyme

Axthelm, F. (2008) · edoc (University of Basel) · doi:10.5451/unibas-004662851

Infection par le virus de l’immunodéfience humaine et réanimation

Mourvillier, B., Wolff, M., Bruneel, F., Yéni, P., & Regnier, B. (2009)

Mitochondrial Disease in the Pediatric Patient

Buegel, A. L., Schalk, A., & Geraghty, M. E. (2009) · ICAN Infant Child & Adolescent Nutrition · doi:10.1177/1941406409352201

Mitochondrial disorders

Henchcliffe, M. V. A. C. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511977749.025

PUPIL DISORDERS, IS PHARMACOLOGICAL TESTING NECESSARY?

Questions, C., Kardon, R. H., Trobe, J. D., & Arbor, A. (2010)

Impact of Oxidative Stress on Female Fertility.

Harris, T. (2013) · Digital Commons - East Tennessee State University (East Tennessee State University)

Complex V Disorders

Tarnopolsky, M. A., & Alshahoumi, R. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800877-5.00033-4

MITOCHONDRIAL CYTOPATHIES IN CHILDREN AND ADULTS

Tarnopolsky, M. A. (2009) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/01.con.0000348880.16694.08

Biomarkers and progress of antioxidant therapy for rare mitochondrial disorders

Chico, L., Orsucci, D., Gerfo, A. L., Marconi, L., Mancuso, M., & Siciliano, G. (2016) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1178570

Molecular signature pathway of gene protein interaction in human mitochondrial DNA (mtDNA) metabolism linked disease

Bhattacharya, M., Senapati, D., Kar, A., Malick, R. C., Patra, B. C., & Das, B. K. (2018) · Indian Journal of Medical Specialities · doi:10.1016/j.injms.2018.05.001

A Review Of Creatine And Its Role In Muscle Strength And Balance

Albl, A. A. (2018) · NC Digital Online Collection of Knowledge and Scholarship (The University of North Carolina at Greensboro) · doi:10.71889/5fylantbak.29862935

Complex IV

Tarnopolsky, M. A., & Alshahoumi, R. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-800877-5.00032-2

Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report

Chen, L., Shuai, T., Gao, Y., Li, M., Fang, P., Christian, W., & Liu, L. (2023) · World Journal of Clinical Cases · doi:10.12998/wjcc.v11.i22.5392

Treatment of a patient with severe lactic acidosis and multiple organ failure due to mitochondrial myopathy: A case report

Chen, L., Shuai, T., Gao, Y., Li, M., Fang, P., Christian, W., & Liu, L. (2023) · World Journal of Clinical Cases · doi:10.12998/wjcc.v11.i22.5398

Stroke-Like Episodes in Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Lin, V. W., & Pavlakis, S. G. (2024) · Springer eBooks · doi:10.1007/978-3-031-41777-1_7

Are you okay with your energy? Check your mitochondria – case study

Socianu, A.-D., & Ratea, C. (2024) · The Romanian Journal of Nutrition. · doi:10.26416/journutri.1.1.2024.9488

Metabolic Myopathies

Khadilkar, S. V., Yadav, R. S., & Patel, B. A. (2024) · Springer eBooks · doi:10.1007/978-981-97-9010-4_31

Divergent miRNA-mRNA networks contribute to tissue-specific lipid homeostasis in triploid rainbow trout skeletal muscle during high-lipid diet challenge

Wei, F., Zuo, X., Yang, Q., Li, Q., Jin, F., Ma, R., Sun, G., Cui, M., & Meng, Y. (2025) · Genomics · doi:10.1016/j.ygeno.2025.111162

Additional file 1 of Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

Capristo, M., Dotto, V. D., Tropeano, C. V., Fiorini, C., Caporali, L., Morgia, C. L., Valentino, M. L., Montopoli, M., Carelli, V., & Maresca, A. (2022) · Figshare · doi:10.6084/m9.figshare.20428477

Rhabdomyolysis due to mtDNA pathogenic variants: Report of a subject with a novel MT-CO3 variant and review of the literature

Barca, E., Jacoby, N., Naini, A., Miller, M. L., Emmanuele, V., Winfree, C. J., Tadesse, S., Tanji, K., & Hirano, M. (2026) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2026.109767

Etude de la dysfonction cellulaire et moléculaire du syndrome mitochondrial MELAS.

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Yeast models of diseases linked to the mitochondrial ATP6 gene : molecular bases and therapeutic prospects

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Progressive ophthalmoplegia, cyclical hypersomnolence, and sensorineural hearing loss in a child with genetically confirmed Kearns-Sayre Syndrome: A diagnostic odyssey

Shashi, P., & Aditya, D. (2025) · Journal of Case Reports and Clinical Studies · doi:10.46439/casereports.1.009

Interplay between Neuronal Metabolism and Signaling in Model Systems with Impaired α-Ketoglutarate Dehydrogenase Complex Activity

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Antioxidant premedication reduces mitochondrial and nuclear DNA damage repair in interventional physicians performing X-ray-guided angiography procedures: a pilot clinical intervention study

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Nutraceutical Cofactor Therapy in Mitochondrial Disease

Rodriguez, M. C. (2006) · MacSphere (McMaster University) · doi:10.71548/6767

The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies

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A randomized trial of coenzyme Q 10 in mitochondrial disorders

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Coenzyme Q 10 Improves Lactic Acidosis, Strokelike Episodes, and Epilepsy in a Patient With MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes)

García, Á. B., Barberá-Farré, J. R., Porta-Etessam, J., Salio, A. M., Cabello, A., Gutiérrez‐Rivas, E., & Campos, Y. (2004) · Clinical Neuropharmacology · doi:10.1097/01.wnf.0000137862.67131.bf · Cited by 49

Metabolic changes in patients with mitochondrial myopathies and effects of coenzyme Q 10 therapy

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