Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 650

1.

Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing.

Souza PVS, Bortholin T, Teixeira CAC, Seneor DD, Marin VDGB, Dias RB, Farias IB, Badia BML, Silva LHL, Pinto WBVR, Oliveira ASB, DiMauro S.

Mitochondrion. 2019 Jul 2;49:25-34. doi: 10.1016/j.mito.2019.06.008. [Epub ahead of print]

PMID:
31271879
2.

Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism.

Tarasenko TN, Jestin M, Matsumoto S, Saito K, Hwang S, Gavrilova O, Trivedi N, Zerfas PM, Barca E, DiMauro S, Senac J, Venditti CP, Cherukuri M, McGuire PJ.

J Mol Med (Berl). 2019 Sep;97(9):1231-1243. doi: 10.1007/s00109-019-01786-w. Epub 2019 May 3.

PMID:
31053970
3.

FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.

Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagné J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, Tsokos MG, Kleiner DE, Garone C, Cusmano-Ozog K, Enns GM, Vernon HJ, Andersson HC, Grunewald S, Elkahloun AG, Girard CL, Schnermann J, DiMauro S, Andres-Mateos E, Vandenberghe LH, Chandler RJ, Venditti CP.

JCI Insight. 2018 Dec 6;3(23). pii: 124351. doi: 10.1172/jci.insight.124351.

4.

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.

PMID:
30111548
5.

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.

6.

Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias.

Barca E, Emmanuele V, DiMauro S, Toscano A, Quinzii CM.

Curr Neuropharmacol. 2019;17(1):21-32. doi: 10.2174/1570159X15666171109125643. Review.

7.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M.

Hum Mol Genet. 2017 Nov 1;26(21):4257-4266. doi: 10.1093/hmg/ddx314.

8.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

9.

Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation.

Tarasenko TN, Pacheco SE, Koenig MK, Gomez-Rodriguez J, Kapnick SM, Diaz F, Zerfas PM, Barca E, Sudderth J, DeBerardinis RJ, Covian R, Balaban RS, DiMauro S, McGuire PJ.

Cell Metab. 2017 Jun 6;25(6):1254-1268.e7. doi: 10.1016/j.cmet.2017.05.007.

10.

A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children.

Kurt YG, Çoku J, Akman HO, Naini A, Lu J, Engelstad K, Hirano M, De Vivo DC, DiMauro S.

Child Neurol Open. 2016 Apr 4;3:2329048X15627937. doi: 10.1177/2329048X15627937. eCollection 2016 Jan-Dec.

11.

Mitochondrial diseases.

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM.

Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Review.

PMID:
27775730
12.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB.

Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012. Epub 2016 Aug 31.

13.

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency.

Sadat R, Barca E, Masand R, Donti TR, Naini A, De Vivo DC, DiMauro S, Hanchard NA, Graham BH.

Mol Genet Metab. 2016 May;118(1):28-34. doi: 10.1016/j.ymgme.2016.03.004. Epub 2016 Mar 8.

14.

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.

15.

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.

16.

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Akman HO, Aykit Y, Amuk OC, Malfatti E, Romero NB, Maioli MA, Piras R, DiMauro S, Marrosu G.

Neuromuscul Disord. 2016 Jan;26(1):16-20. doi: 10.1016/j.nmd.2015.10.012. Epub 2015 Nov 10.

17.

CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

Barca E, Tang M, Kleiner G, Engelstad K, DiMauro S, Quinzii CM, De Vivo DC.

JIMD Rep. 2016;29:47-52. Epub 2015 Nov 29.

18.

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Orhan Akman H, Emmanuele V, Kurt YG, Kurt B, Sheiko T, DiMauro S, Craigen WJ.

Hum Mol Genet. 2015 Dec 1;24(23):6801-10. doi: 10.1093/hmg/ddv385. Epub 2015 Sep 18.

19.

Metabolic Myoglobinuria.

Barca E, Emmanuele V, DiMauro SB.

Curr Neurol Neurosci Rep. 2015 Oct;15(10):69. doi: 10.1007/s11910-015-0590-9. Review.

PMID:
26319173
20.

Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.

Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M.

JAMA Neurol. 2015 Jun;72(6):666-75. doi: 10.1001/jamaneurol.2015.0178. Erratum in: JAMA Neurol. 2015 Oct;72(10):1210.

21.

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease.

Akman HO, Kakhlon O, Coku J, Peverelli L, Rosenmann H, Rozenstein-Tsalkovich L, Turnbull J, Meiner V, Chama L, Lerer I, Shpitzen S, Leitersdorf E, Paradas C, Wallace M, Schiffmann R, DiMauro S, Lossos A, Minassian BA.

JAMA Neurol. 2015 Apr;72(4):441-5. doi: 10.1001/jamaneurol.2014.4496. Erratum in: JAMA Neurol. 2015 Apr;72(4):481.

PMID:
25665141
22.

MERRF.

DiMauro S, Hirano M.

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.
2003 Jun 3 [updated 2015 Jan 29].

23.

Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome).

Leigh PN, Al-Sarraj S, DiMauro S.

J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):363-5. doi: 10.1136/jnnp-2012-304601. Epub 2015 Jan 13. No abstract available.

24.

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. Review.

25.

A myopathy with unusual features caused by PNPLA2 gene mutations.

Pennisi EM, Missaglia S, Dimauro S, Bernardi C, Akman HO, Tavian D.

Muscle Nerve. 2015 Apr;51(4):609-13. doi: 10.1002/mus.24477. Epub 2015 Feb 28.

PMID:
25287355
26.

A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A.

Ann Neurol. 2014 Dec;76(6):891-8. doi: 10.1002/ana.24284. Epub 2014 Oct 31.

27.

TMEM14C is required for erythroid mitochondrial heme metabolism.

Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH.

J Clin Invest. 2014 Oct;124(10):4294-304. doi: 10.1172/JCI76979. Epub 2014 Aug 26.

28.

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. No abstract available.

29.

Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Virmani T, Rotstein M, Spiegel R, Akman HO, DiMauro S, Greene PE.

Mov Disord Clin Pract. 2014 Jun 26;1(3):240-242. doi: 10.1002/mdc3.12055. eCollection 2014 Sep. No abstract available.

30.

A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

Pallotti F, Binelli G, Fabbri R, Valentino ML, Vicenti R, Macciocca M, Cevoli S, Baruzzi A, DiMauro S, Carelli V.

PLoS One. 2014 May 7;9(5):e96663. doi: 10.1371/journal.pone.0096663. eCollection 2014. Erratum in: PLoS One. 2014;9(12):e115961.

31.

Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration.

Bit-Ivan EN, Lee KH, Gitelman D, Weintraub S, Mesulam M, Rademakers R, Isaacs AM, Hatanpaa KJ, White CL 3rd, Mao Q, Akman O, DiMauro S, Bigio EH.

Neuropathol Appl Neurobiol. 2014 Oct;40(6):778-82. doi: 10.1111/nan.12144. No abstract available.

32.

Author response.

DiMauro S.

Neurology. 2014 Feb 18;82(7):644. No abstract available.

PMID:
24745040
33.

Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging.

Goh S, Dong Z, Zhang Y, DiMauro S, Peterson BS.

JAMA Psychiatry. 2014 Jun;71(6):665-71. doi: 10.1001/jamapsychiatry.2014.179. Erratum in: JAMA Psychiatry. 2014 Jul;71(7):840.

34.

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.

35.

Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers.

Weiduschat N, Kaufmann P, Mao X, Engelstad KM, Hinton V, DiMauro S, De Vivo D, Shungu D.

Neurology. 2014 Mar 4;82(9):798-805. doi: 10.1212/WNL.0000000000000169. Epub 2014 Jan 29.

36.

Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.

Levy RJ, Ríos PG, Akman HO, Sciacco M, Vivo DC, DiMauro S.

J Child Neurol. 2014 Oct;29(10):NP105-10. doi: 10.1177/0883073813506783. Epub 2013 Nov 27. Review.

37.

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.

38.

Mitochondrial DNA mutation load: chance or destiny?

DiMauro S.

JAMA Neurol. 2013 Dec;70(12):1484-5. doi: 10.1001/jamaneurol.2013.4401. No abstract available.

39.

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH.

Am J Hum Genet. 2013 Nov 7;93(5):906-14. doi: 10.1016/j.ajhg.2013.09.011. Epub 2013 Oct 10.

40.

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.

41.

New insights in the field of muscle glycogenoses.

Oldfors A, DiMauro S.

Curr Opin Neurol. 2013 Oct;26(5):544-53. doi: 10.1097/WCO.0b013e328364dbdc. Review.

PMID:
23995275
42.

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.

Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J, Venditti CP.

Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7. doi: 10.1073/pnas.1302764110. Epub 2013 Jul 29.

43.

Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture.

DiMauro S.

Neurology. 2013 Jul 16;81(3):281-91. doi: 10.1212/WNL.0b013e31829bfe89. No abstract available.

44.

Mitochondrial encephalomyopathy due to a novel mutation in ACAD9.

Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S.

JAMA Neurol. 2013 Sep 1;70(9):1177-9. doi: 10.1001/jamaneurol.2013.3197.

45.

The clinical maze of mitochondrial neurology.

DiMauro S, Schon EA, Carelli V, Hirano M.

Nat Rev Neurol. 2013 Aug;9(8):429-44. doi: 10.1038/nrneurol.2013.126. Epub 2013 Jul 9. Review.

46.

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

Nilsson J, Schoser B, Laforet P, Kalev O, Lindberg C, Romero NB, Dávila López M, Akman HO, Wahbi K, Iglseder S, Eggers C, Engel AG, Dimauro S, Oldfors A.

Ann Neurol. 2013 Dec;74(6):914-9. doi: 10.1002/ana.23963.

47.

Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.

Kakhlon O, Glickstein H, Feinstein N, Liu Y, Baba O, Terashima T, Akman HO, Dimauro S, Lossos A.

J Neurochem. 2013 Oct;127(1):101-13. doi: 10.1111/jnc.12277. Epub 2013 May 9.

48.

Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.

Fernández-Ayala DJ, Guerra I, Jiménez-Gancedo S, Cascajo MV, Gavilán A, Dimauro S, Hirano M, Briones P, Artuch R, De Cabo R, Salviati L, Navas P.

BMJ Open. 2013 Mar 25;3(3). pii: e002524. doi: 10.1136/bmjopen-2012-002524.

49.

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.

Vernau KM, Runstadler JA, Brown EA, Cameron JM, Huson HJ, Higgins RJ, Ackerley C, Sturges BK, Dickinson PJ, Puschner B, Giulivi C, Shelton GD, Robinson BH, DiMauro S, Bollen AW, Bannasch DL.

PLoS One. 2013;8(3):e57195. doi: 10.1371/journal.pone.0057195. Epub 2013 Mar 4.

50.

Mitochondrial abnormalities in temporal lobe of autistic brain.

Tang G, Gutierrez Rios P, Kuo SH, Akman HO, Rosoklija G, Tanji K, Dwork A, Schon EA, Dimauro S, Goldman J, Sulzer D.

Neurobiol Dis. 2013 Jun;54:349-61. doi: 10.1016/j.nbd.2013.01.006. Epub 2013 Jan 17.

Supplemental Content

Loading ...
Support Center