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Research Publications

Perceived association of mood and symptom severity in adults with mitochondrial diseases. Kelly C, Junker A, Englestad K, Hirano M, Trumpff C, Picard M. medRxiv [Preprint]. 2024 Feb 4:2024.02.02.24302076. doi: 10.1101/2024.02.02.24302076.

Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism. Verma A, Lehman AN, Gokcan H, Cropcho L, Black D, Dobrowolski SF, Vockley J, Bedoyan JK. Mol Genet Genomic Med. 2023 Sep 8:e2283. doi: 10.1002/mgg3.2283. Epub ahead of print. PMID: 37688338.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin. Duque Lasio LM, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK. Mol. Genet. Metab. 139: doi: 10.1016/j.ymgme.2023.107605. PMID: 37207470.

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Neurology. 2023 Jul 18;101(3):e238-e252. doi: 10.1212/WNL.0000000000207402. Epub 2023 Jun 2.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29.

Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations. Solis EM, Good LB, Vázquez RG, Patnaik S, Hernandez-Reynoso AG, Ma Q, Angulo G, Dobariya A, Cogan SF, Pancrazio JJ, Pascual JM, Jakkamsetti V. bioRxiv. 2023 Aug 20:2023.06.05.543611. doi: 10.1101/2023.06.05.543611. Preprint.

Progressive external ophthalmoplegia. Hirano M, Pitceathly RDS. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X.

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells. Lareau CA, Dubois SM, Buquicchio FA, Hsieh YH, Garg K, Kautz P, Nitsch L, Praktiknjo SD, Maschmeyer P, Verboon JM, Gutierrez JC, Yin Y, Fiskin E, Luo W, Mimitou EP, Muus C, Malhotra R, Parikh S, Fleming MD, Oevermann L, Schulte J, Eckert C, Kundaje A, Smibert P, Vardhana SA, Satpathy AT, Regev A, Sankaran VG, Agarwal S, Ludwig LS. Nat Genet. 2023 Jul;55(7):1198-1209. doi: 10.1038/s41588-023-01433-8. Epub 2023 Jun 29. PMID: 37386249

Mitochondrial diseases are multisystemic, genetic disorders involving dysfunction of the mitochondria (specialized cell structures that produce energy), which affects cellular metabolism. Diverse mitochondrial DNA (mtDNA) mutations are associated with diverse phenotypes (observable characteristics), suggesting that metabolic vulnerabilities may be specific to organ and cell types.

In this study, researchers developed a multi-omics approach to investigate the properties of mitochondrial genetics. In single cells derived from six patients with mitochondrial diseases, the team quantified deletions in mtDNA alongside cell state features.

Results reveal the dynamics of pathogenic (disease-causing) mtDNA heteroplasmy (multiple variants within a cell) in individual blood and immune cells. Authors note that these findings demonstrate the power of single-cell multi-omics to reveal fundamental properties of mitochondrial genetics.

The evolution of the mitochondrial disease diagnostic odyssey. Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. Orphanet J Rare Dis. 2023 Jun 22;18(1):157. doi: 10.1186/s13023-023-02754-x.

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. J Inherit Metab Dis. 2022 May 27. doi: 10.1002/jimd.12526. Online ahead of print.

Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies. Berardo A, Domínguez-González C, Engelstad K, Hirano M. J Neuromuscul Dis. 2022;9(2):225-235. doi: 10.3233/JND-210786.

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, van Maanen R, McFarland R, Parikh S, Rahman S, Scaglia F, Sherman AV, Yeske P, Falk MJ. Adv Genet (Hoboken). 2022 Mar;3(1):2100047. doi: 10.1002/ggn2.202100047. Epub 2021 Dec 19.

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes. Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Hum Mutat. 2022 Mar;43(3):305-315. doi: 10.1002/humu.24330. Epub 2022 Jan 19.

Implications of mitochondrial DNA mutations in human induced pluripotent stem cells. Carelli V, Hirano M, Enríquez JA, Chinnery PF. Nat Rev Genet. 2022 Feb;23(2):69-70. doi: 10.1038/s41576-021-00430-z.

Mitochondrial DNA maintenance defects: potential therapeutic strategies. Almannai M, El-Hattab AW, Azamian MS, Ali M, Scaglia F. Mol Genet Metab. 2022 Sep-Oct;137(1-2):40-48. doi: 10.1016/j.ymgme.2022.07.003. Epub 2022 Jul 6. PMID: 35914366.

Mitochondrial DNA maintenance defects (MDMDs) are a group of disorders characterized by mitochondrial DNA (mtDNA) depletions and/or multiple deletions. These disorders most often affect the brain, liver, skeletal muscle, peripheral nerves, and gastrointestinal tract. As with other mitochondrial disorders, treatment options for MDMDs are currently limited. Recent progress in MDMD research includes the development of model organisms, improved understanding of their pathophysiology, and a better knowledge of their natural history. This progress has led to an increasing number of preclinical studies, as well as existing and planned clinical trials. In this review paper, researchers discuss current studies and trials, including potential new therapeutic options for MDMDs.

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis. Pernice WM, Eyaid W, Gc JB, Brown ZP, Juanola-Falgarona M, Torres-Torronteras J, Sommerville EW, Hellebrekers DM, Blakely EL, Donaldson A, van de Laar I, Leu CS, Marti R, Frank J, Tanji K, Koolen DA, Rodenburg RJ, Chinnery PF, Smeets HJM, Gorman GS, Bonnen PE, Taylor RW, Hirano M. J Clin Invest. 2022 Jul 1;132(13):e145660. doi: 10.1172/JCI145660. PMID: 35617047; PMCID: PMC9246377.

Mitochondrial DNA depletion/deletions syndromes (MDDS) are a group of inherited disorders in which copies of the DNA (genetic material) within mitochondria (specialized cell structures that produce energy) are severely reduced in number. MDDS are frequently caused by defects in nucleoside and nucleotide metabolism, which is critical for mitochondrial DNA replication. In this study, researchers report five individuals from four families who presented with ptosis (eyelid drooping), ophthalmoplegia (eye muscle weakness), other clinical manifestations, and multiple mitochondrial DNA deletions in muscle. The team identified three variants in the gene RRM1, which affect ribonucleotide reductase protein structure and function, leading to impairment of de novo nucleotide synthesis. These results reveal that both recessive and dominant RRM1 variants cause MDDS. Additionally, these findings demonstrate that elements of the de novo nucleotide synthesis pathway may lead to MDDS.

Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function. Gokcan H, Bedoyan JK, Isayev O. J Chem Inf Model. 2022 Jul 25;62(14):3463-3475. doi: 10.1021/acs.jcim.2c00630. Epub 2022 Jul 7.

Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study. Ju Wang JD, Chen M, Zhang C, Parker J, Saneto R, Ramirez JM. Pediatr Neurol. 2022 Nov;136:56-63. doi: 10.1016/j.pediatrneurol.2022.08.006. Epub 2022 Aug 29.

Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function. Ducich NH, Mears JA, Bedoyan JK. J Inherit Metab Dis. 2022 Jan 17. doi: 10.1002/jimd.12477. Online ahead of print.

Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, Cohen BH, Van Hove JLK, Scaglia F, Hoppel C, Rosales XQ, Barca E, Buchsbaum R, Thompson JL, DiMauro S, Hirano M; North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022 Jun;136(2):125-131. doi: 10.1016/j.ymgme.2022.05.001. Epub 2022 May 13.

Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities. Saneto RP, Patrick KE, Perez FA. Mitochondrion. 2021 Jul;59:58-62. doi: 10.1016/j.mito.2021.04.010. Epub 2021 Apr 22.

Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder. Zolkipli-Cunningham Z, Naviaux JC, Nakayama T, Hirsch CM, Monk JM, Li K, Wang L, Le TP, Meinardi S, Blake DR, Naviaux RK. PLoS One. 2021 Mar 18;16(3):e0248771. doi: 10.1371/journal.pone.0248771. eCollection 2021.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M. J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8.

Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Mol Genet Metab. 2021 Aug;133(4):362-371. doi: 10.1016/j.ymgme.2021.06.001. Epub 2021 Jun 10.

Regulatory environment for novel therapeutic development in mitochondrial diseases. Hirano M, Berardo A, Barca E, Emmanuele V, Quinzii C, Simpson CV, Engelstad K, Rosales XQ, Thompson JLP. J Inherit Metab Dis. 2021 Mar;44(2):292-300. doi: 10.1002/jimd.12353. Epub 2021 Jan 4.

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency. Lopez-Gomez C, Sanchez-Quintero MJ, Lee EJ, Kleiner G, Tadesse S, Xie J, Akman HO, Gao G, Hirano M. Ann Neurol. 2021 Oct;90(4):640-652. doi: 10.1002/ana.26185. Epub 2021 Aug 13.

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R. Mol Genet Metab. 2021 Feb;132(2):146-153. doi: 10.1016/j.ymgme.2021.01.005. Epub 2021 Jan 14.

A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype. Kripps KA, Friederich MW, Chen T, Larson AA, Mirsky DM, Wang Y, Tanji K, Knight KM, Wong LJ, Van Hove JLK. Mol Genet Metab. 2020 Dec;131(4):398-404. doi: 10.1016/j.ymgme.2020.11.006. Epub 2020 Nov 24.

A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy. Karaa A, Haas R, Goldstein A, Vockley J, Cohen BH. J Cachexia Sarcopenia Muscle. 2020 Aug;11(4):909-918. doi: 10.1002/jcsm.12559. Epub 2020 Feb 25.

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Shen L, McCormick EM, Muraresku CC, Falk MJ, Gai X. Clin Lab Med. 2020 Jun;40(2):149-161. doi: 10.1016/j.cll.2020.02.002.

Clinical trials in mitochondrial disorders, an update. Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F. Mol Genet Metab. 2020 Sep-Oct;131(1-2):1-13. doi: 10.1016/j.ymgme.2020.10.002. Epub 2020 Oct 6.

Editing the Mitochondrial Genome. Falkenberg M, Hirano M. N Engl J Med. 2020 Oct 8;383(15):1489-1491. doi: 10.1056/NEJMcibr2025332.

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy. Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez C, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras D, Kalko SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya J, Ruiz-Pesini E, Villarroya J, Montero R, Villarroya F, Artuch R, Hirano M, Nascimento A, Jimenez-Mallebrera C. Sci Rep. 2020 Jun 22;10(1):10111. doi: 10.1038/s41598-020-66940-8.

Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6. Berardo A, Emmanuele V, Vargas W, Tanji K, Naini A, Hirano M. J Neurol. 2020 Mar;267(3):823-829. doi: 10.1007/s00415-019-09619-z. Epub 2019 Nov 27.

Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Neurol Genet. 2020 Mar 2;6(2):e402. doi: 10.1212/NXG.0000000000000402. eCollection 2020 Apr.

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing. Saneto RP. J Transl Genet Genom. 2020;4:384-428. doi: 10.20517/jtgg.2020.40. Epub 2020 Sep 29.

Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK. Mol Genet Metab. 2020 Mar;129(3):236-242. doi: 10.1016/j.ymgme.2019.12.013. Epub 2019 Dec 30.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10.

Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Mol Genet Metab. 2020 May;130(1):58-64. doi: 10.1016/j.ymgme.2020.03.001. Epub 2020 Mar 6.

The North American mitochondrial disease registry. Rosales XQ, Thompson JLP, Haas R, Van Hove JLK, Karaa A, Krotoski D, Engelstad K, Buchsbaum R, DiMauro S, Hirano M; North American Mitochondrial Disease Consortium. J Transl Genet Genom. 2020;4:81-90. doi: 10.20517/jtgg.2020.12. Epub 2020 Apr 28.

The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. Mitochondrion. 2020 Nov;55:8-13. doi: 10.1016/j.mito.2020.08.009. Epub 2020 Sep 12.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects. Bedoyan JK, Hage R, Shin HK, Linard S, Ferren E, Ducich N, Wilson K, Lehman A, Schillaci LA, Manickam K, Mori M, Bartholomew D, DeBrosse S, Cohen B, Parikh S, Kerr D. JIMD Rep. 2020 Aug 16;56(1):70-81. doi: 10.1002/jmd2.12153. eCollection 2020 Nov.

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirabis D, Wang E, Shin H, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. JIMD Rep. 2019 Jun 17;48(1):26-35.

Advances in primary mitochondrial myopathies. de Barcelos IP, Emmanuele V, Hirano M. Curr Opin Neurol. 2019 Oct;32(5):715-721. doi: 10.1097/WCO.0000000000000743.

Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency. Lopez-Gomez C, Hewan H, Sierra C, Akman HO, Sanchez-Quintero MJ, Juanola-Falgarona M, Tadesse S, Tanji K, Konofagou EE, Hirano M. EBioMedicine. 2019 Aug;46:356-367. doi: 10.1016/j.ebiom.2019.07.037. Epub 2019 Aug 2.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Mitochondrion. 2019 Jan;44:58-64. doi: 10.1016/j.mito.2018.01.001. Epub 2018 Jan 4.

Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice. Kubota A, Juanola-Falgarona M, Emmanuele V, Sanchez-Quintero MJ, Kariya S, Sera F, Homma S, Tanji K, Quinzii CM, Hirano M. Hum Mol Genet. 2019 Jan 15;28(2):209-219. doi: 10.1093/hmg/ddy299.

CoQ10 and Aging. Barcelos IP, Haas RH. Biology (Basel). 2019 May 11;8(2):28. doi: 10.3390/biology8020028.

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17.

Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure. Rosenberg BJ, Hirano M, Quinzii CM, Colantuoni E, Needham DM, Lederer DJ, Baldwin MR. Thorax. 2019 Nov;74(11):1099-1101. doi: 10.1136/thoraxjnl-2019-213621. Epub 2019 Sep 18.

Human aging DNA methylation signatures are conserved but accelerated in cultured fibroblasts. Sturm G, Cardenas A, Bind MA, Horvath S, Wang S, Wang Y, Hägg S, Hirano M, Picard M. Epigenetics. 2019 Oct;14(10):961-976. doi: 10.1080/15592294.2019.1626651. Epub 2019 Jun 12.

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ Jr, Biegel JA, Gai X. Cancer Res. 2019 Apr 1;79(7):1318-1330. doi: 10.1158/0008-5472.CAN-18-2220. Epub 2019 Feb 1.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C. Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. Hum Mutat. 2019 May;40(5):499-515. doi: 10.1002/humu.23723. Epub 2019 Mar 4.

Mitochondrial Dysfunction in Aging and Diseases of Aging. Haas RH. Biology (Basel). 2019 Jun 17;8(2):48. doi: 10.3390/biology8020048.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy. Gramegna LL, Pisano A, Testa C, Manners DN, D'Angelo R, Boschetti E, Giancola F, Pironi L, Caporali L, Capristo M, Valentino ML, Plazzi G, Casali C, Dotti MT, Cenacchi G, Hirano M, Giordano C, Parchi P, Rinaldi R, De Giorgio R, Lodi R, Carelli V, Tonon C. AJNR Am J Neuroradiol. 2018 Mar;39(3):427-434. doi: 10.3174/ajnr.A5507. Epub 2018 Jan 18.

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC. PLoS One. 2018 Aug 29;13(8):e0203198. doi: 10.1371/journal.pone.0203198. eCollection 2018.

CoQ(10) supplementation rescues nephrotic syndrome through normalization of H(2)S oxidation pathway. Kleiner G, Barca E, Ziosi M, Emmanuele V, Xu Y, Hidalgo-Gutierrez A, Qiao C, Tadesse S, Area-Gomez E, Lopez LC, Quinzii CM. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3708-3722. doi: 10.1016/j.bbadis.2018.09.002. Epub 2018 Sep 6.

Diagnostic odyssey of patients with mitochondrial disease. Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John LP Thompson. Body: Johnston Grier, Michio Hirano, Amel Karaa, Emma Shepard, John L.P. Thompson. Diagnostic odyssey of patients with mitochondrial disease: Results of a survey. Neurol Genet. Apr 2018, 4 (2) e230; DOI: 10.1212/NXG.0000000000000230.

Diagnostic odyssey of patients with mitochondrial disease: Results of a survey. Grier J, Hirano M, Karaa A, Shepard E, Thompson JLP. Neurology Genetics. 2018;4(2):e230. PMID: 29600276, PMCID: PMC5873725.

Emerging therapies for mitochondrial diseases. Hirano M, Emmanuele V, Quinzii CM. Essays Biochem. 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. Print 2018 Jul 20.

Endocrine Disorders in Primary Mitochondrial Disease. Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. J Endocr Soc. 2018 Feb 19;2(4):361-373. doi: 10.1210/js.2017-00434. eCollection 2018 Apr 1.

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. Torres-Torronteras J, Cabrera-Pérez R, Vila-Julià F, Viscomi C, Cámara Y, Hirano M, Zeviani M, Martí R. Hum Gene Ther. 2018 Jun;29(6):708-718. doi: 10.1089/hum.2017.133. Epub 2018 Feb 26.

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X. Hum Mutat. 2018 Jun;39(6):806-810. doi: 10.1002/humu.23422. Epub 2018 Apr 6.

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Curr Opin Pediatr. 2018 Dec;30(6):714-724. doi: 10.1097/MOP.0000000000000686.

Mitochondrial disease patient motivations and barriers to participate in clinical trials. Zolkipli-Cunningham Z, Xiao R, Stoddart A, McCormick EM, Holberts A, Burrill N, McCormack S, Williams L, Wang X, Thompson JLP, Falk MJ. PLoS One. 2018 May 17;13(5):e0197513. doi: 10.1371/journal.pone.0197513. eCollection 2018.

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. Karaa A, Haas R, Goldstein A, Vockley J, Weaver WD, Cohen BH. Neurology. 2018 Apr 3;90(14):e1212-e1221. doi: 10.1212/WNL.0000000000005255. Epub 2018 Mar 2.

Retrospective natural history of thymidine kinase 2 deficiency. Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography. Siegmund SE, Grassucci R, Carter SD, Barca E, Farino ZJ, Juanola-Falgarona M, Zhang P, Tanji K, Hirano M, Schon EA, Frank J, Freyberg Z. iScience. 2018 Aug 31;6:83-91. doi: 10.1016/j.isci.2018.07.014. Epub 2018 Jul 20.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder. Garone C, Gurgel-Giannetti J, Sanna-Cherchi S, Krishna S, Naini A, Quinzii CM, Hirano M. J Child Neurol. 2017 Feb;32(2):246-250. doi: 10.1177/0883073816666221. Epub 2016 Sep 28.

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, Juanola-Falgarona M, Barca E, Garcia-Diaz B, Tadesse S, Garone C, Hirano M. Ann Neurol. 2017 May;81(5):641-652. doi: 10.1002/ana.24922. Epub 2017 May 4.

Disorders of pyruvate metabolism and the tricarboxylic acid cycle. Kerr DS, Bedoyan JK. In Sarafoglou K (ed) Essentials of Pediatric Endocrinology and Metabolism, 2nd Edition, McGraw Hill, 2017.

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Mol Genet Metab. 2017 Nov;122(3):61-66. doi: 10.1016/j.ymgme.2017.09.001. Epub 2017 Sep 8.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Mancuso M, McFarland R, Klopstock T, Hirano M; consortium on Trial Readiness in Mitochondrial Myopathies. Neuromuscul Disord. 2017 Dec;27(12):1126-1137. doi: 10.1016/j.nmd.2017.08.006. Epub 2017 Sep 8.

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2.

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.

Advances in purine and pyrimidine metabolism in health and diseases. Hirano M, Peters GJ. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):495-501. doi: 10.1080/15257770.2016.1218022.

Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. Saneto RP. J Multidiscip Healthc. 2016 Jul 26;9:323-33. doi: 10.2147/JMDH.S84900. eCollection 2016.

Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy. Engelstad K, Sklerov M, Kriger J, Sanford A, Grier J, Ash D, Egli D, DiMauro S, Thompson JL, Sauer MV, Hirano M. Hum Reprod. 2016 May;31(5):1058-65. doi: 10.1093/humrep/dew033. Epub 2016 Mar 2.

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. Barca E, Musumeci O, Montagnese F, Marino S, Granata F, Nunnari D, Peverelli L, DiMauro S, Quinzii CM, Toscano A. Clin Genet. 2016 Aug;90(2):156-60. doi: 10.1111/cge.12742. Epub 2016 Feb 16.

FHF1 (FGF12) epileptic encephalopathy. Al-Mehmadi S, Splitt M; For DDD Study group*, Ramesh V, DeBrosse S, Dessoffy K, Xia F, Yang Y, Rosenfeld JA, Cossette P, Michaud JL, Hamdan FF, Campeau PM, Minassian BA; For CENet Study group‡. Neurol Genet. 2016 Oct 28;2(6):e115. doi: 10.1212/NXG.0000000000000115. eCollection 2016 Dec.

Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes. Yamada M, Emmanuele V, Sanchez-Quintero MJ, Sun B, Lallos G, Paull D, Zimmer M, Pagett S, Prosser RW, Sauer MV, Hirano M, Egli D. Cell Stem Cell. 2016 Jun 2;18(6):749-754. doi: 10.1016/j.stem.2016.04.001. Epub 2016 May 19.

Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. Torres-Torronteras J, Cabrera-Pérez R, Barba I, Costa C, de Luna N, Andreu AL, Barquinero J, Hirano M, Cámara Y, Martí R. Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160. Epub 2016 May 4.

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. Hum Mutat. 2016 Jun;37(6):540-548. doi: 10.1002/humu.22974. Epub 2016 Mar 21.

Mitochondrial Diseases: A Clinical and Molecular History. Pavlakis SG, Hirano M. Pediatr Neurol. 2016 Oct;63:3-5. doi: 10.1016/j.pediatrneurol.2016.05.014. Epub 2016 Jun 2.

Mitochondrial disease patients' perception of dietary supplements' use. Karaa A, Kriger J, Grier J, Holbert A, Thompson JL, Parikh S, Hirano M. Mol Genet Metab. 2016 Sep;119(1-2):100-8. doi: 10.1016/j.ymgme.2016.07.005. Epub 2016 Jul 16.

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability. Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ. EMBO J. 2016 Sep 15;35(18):1979-90. doi: 10.15252/embj.201694892. Epub 2016 Jul 19.

Neuropsychiatric Features in Primary Mitochondrial Disease. Marin SE, Saneto RP. Neurol Clin. 2016 Feb;34(1):247-94. doi: 10.1016/j.ncl.2015.08.011.

The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Halter JP, Michael W, Schüpbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, Dotti MT, Marotta G, Pintos G, Barba P, Accarino A, Ferra C, Illa I, Beguin Y, Bakker JA, Boelens JJ, de Coo IF, Fay K, Sue CM, Nachbaur D, Zoller H, Sobreira C, Pinto Simoes B, Hammans SR, Savage D, Martí R, Chinnery PF, Elhasid R, Gratwohl A, Hirano M. Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.

Clinical and biochemical characterization of four patients with mutations in ECHS1. Ferdinandusse S, Friederich MW, Burlina A, Ruiter J, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bennett MJ, Elpeleg O, Van Hove JLK, Wanders RJA. Orphanet J Rare Dis. 2015 Jun 18;10:79.

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11.

Innovative genomic collaboration using the GENESIS ( platform. Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. Hum Mutat. 2015 Oct;36(10):950-6. doi: 10.1002/humu.22836. Epub 2015 Aug 12.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H Cohen, Richard G Cotton, IFM de Coo, Olga Derbenevoa, Johan T den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A Shoubridge, Domenico Simone, Bert Smeets, Jan A Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong. Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4.

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. Navarro-Gomez D, Leipzig J, Shen L, Lott M, Stassen AP, Wallace DC, Wiggs JL, Falk MJ, van Oven M, Gai X. Bioinformatics. 2015 Apr 15;31(8):1310-2. doi: 10.1093/bioinformatics/btu825. Epub 2014 Dec 12.

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.

Branching enzyme deficiency: expanding the clinical spectrum. Paradas C, Akman HO, Ionete C, Lau H, Riskind PN, Jones DE, Smith TW, Hirano M, Dimauro S. JAMA Neurol. 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888.

Clinical presentations of coenzyme q10 deficiency syndrome. Quinzii CM, Emmanuele V, Hirano M. Mol Syndromol. 2014 Jul;5(3-4):141-6. doi: 10.1159/000360490.

Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Garcia-Diaz B, Garone C, Barca E, Mojahed H, Gutierrez P, Pizzorno G, Tanji K, Arias-Mendoza F, Quinzii CM, Hirano M. Brain. 2014 May;137(Pt 5):1337-49. doi: 10.1093/brain/awu068. Epub 2014 Apr 10.

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M. EMBO Mol Med. 2014 Aug;6(8):1016-27. doi: 10.15252/emmm.201404092.

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M, Martí R. Mol Ther. 2014 May;22(5):901-7. doi: 10.1038/mt.2014.6. Epub 2014 Jan 22..

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. Peverelli L, Gold CA, Naini AB, Tanji K, Akman HO, Hirano M, Dimauro S. Muscle Nerve. 2014 Aug;50(2):292-5. doi: 10.1002/mus.24262.

Mutant COQ2 in multiple-system atrophy. Quinzii CM, Hirano M, DiMauro S. N Engl J Med. 2014 Jul 3;371(1):81-2. doi: 10.1056/NEJMc1311763.

Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Mol Genet Metab. Rep. 2014 Aug 28;1:362-367.

The genetics of Leigh syndrome and its implications for clinical practice and risk management. Ruhoy IS, Saneto RP. Appl Clin Genet. 2014 Nov 13;7:221-34. doi: 10.2147/TACG.S46176. eCollection 2014.

Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass. Hirano M. Brain. 2014 Feb;137(Pt 2):308-9. doi: 10.1093/brain/awu005.

Alpers-Huttenlocher syndrome. Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Pediatr Neurol. 2013 Mar;48(3):167-78. doi: 10.1016/j.pediatrneurol.2012.09.014.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.

Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. Paradas C, Camaño P, Otaegui D, Oz O, Emmanuele V, DiMauro S, Hirano M. JAMA Neurol. 2013 Nov;70(11):1425-8. doi: 10.1001/jamaneurol.2013.3185.

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. Gurgel-Giannetti J, Oliveira G, Brasileiro Filho G, Martins P, Vainzof M, Hirano M. JAMA Neurol. 2013 Feb;70(2):258-61. doi: 10.1001/jamaneurol.2013.595.

Mitochondrial disease in childhood: mtDNA encoded. Saneto RP, Sedensky MM. Neurotherapeutics. 2013 Apr;10(2):199-211. doi: 10.1007/s13311-012-0167-0.

Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture. DiMauro S. Neurology. 2013 Jul 16;81(3):281-91. doi: 10.1212/WNL.0b013e31829bfe89.

New treatments for mitochondrial disease-no time to drop our standards. Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF. Nat Rev Neurol. 2013 Aug;9(8):474-81. doi: 10.1038/nrneurol.2013.129. Epub 2013 Jul 2.

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q(1)(0) deficiency. Rahman S, Clarke CF, Hirano M. Neuromuscul Disord. Jan 2012;22(1):76-86. PMID: 21723727, PMCID: PMC3222743.

A novel POLG gene mutation in a patient with SANDO. Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M. J Exp Integr Med. 2012;2(2):10.5455/ doi: 10.5455/

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. Ash DB, Papadimitriou D, Hays AP, Dimauro S, Hirano M. Arch Neurol. 2012 Sep;69(9):1190-2. doi: 10.1001/archneurol.2011.2600.

Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Marti R, Lopez LC, Hirano M. Methods Mol Biol. 2012;837:121-133. PMID: 22215544, PMCID: PMC4942128.

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27.

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. Arch Neurol. 2012 Dec;69(12):1648-51. doi: 10.1001/archneurol.2012.405.

Measurement of mitochondrial dNTP pools. Martí R, Dorado B, Hirano M. Methods Mol Biol. 2012;837:135-48. doi: 10.1007/978-1-61779-504-6_9.

POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family. Gurgel-Giannetti J, Camargos ST, Cardoso F, Hirano M, DiMauro S. Muscle Nerve. 2012 Mar;45(3):453-4. doi: 10.1002/mus.22330.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?. Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Halter J, Schüpbach W, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T, Mandel H, Marti R, Mattle H, Orchard K, Savage D, Sue CM, Valcarcel D, Gratwohl A, Hirano M. Bone Marrow Transplant. 2011 Mar;46(3):330-337. doi: 10.1038/bmt.2010.100. Epub 2010 May 3.

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R. Gene Ther. 2011 Aug;18(8):795-806. doi: 10.1038/gt.2011.24. Epub 2011 Mar 31.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC. Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16.

Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation. Dorado B, Area E, Akman HO, Hirano M. Hum Mol Genet. Jan 1 2011;20(1):155-164. PMID: 20940150, PMCID: PMC3000681.

Primary and secondary CoQ(10) deficiencies in humans. Quinzii CM, Hirano M. Biofactors. Sep 2011;37(5):361-365. PMID: 21990098, PMCID: PMC3258494.

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity. Villarroya J, Lara MC, Dorado B, Garrido M, García-Arumí E, Meseguer A, Hirano M, Vilà MR. Biochem Biophys Res Commun. 2011 Apr 8;407(2):333-8. doi: 10.1016/j.bbrc.2011.03.018. Epub 2011 Mar 5.

Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice. Villarroya J, Dorado B, Vilà MR, Garcia-Arumí E, Domingo P, Giralt M, Hirano M, Villarroya F. PLoS One. 2011;6(12):e29691. doi: 10.1371/journal.pone.0029691. Epub 2011 Dec 27.

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS. Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7.