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Items: 1 to 50 of 127

1.

Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis.

Ast T, Meisel JD, Patra S, Wang H, Grange RMH, Kim SH, Calvo SE, Orefice LL, Nagashima F, Ichinose F, Zapol WM, Ruvkun G, Barondeau DP, Mootha VK.

Cell. 2019 May 30;177(6):1507-1521.e16. doi: 10.1016/j.cell.2019.03.045. Epub 2019 Apr 25.

PMID:
31031004
2.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Lake NJ, Formosa LE, Stroud DA, Ryan MT, Calvo SE, Mootha VK, Morar B, Procopis PG, Christodoulou J, Compton AG, Thorburn DR.

Hum Mutat. 2019 Apr 13. doi: 10.1002/humu.23753. [Epub ahead of print]

PMID:
30981218
3.

Clinical manifestations of homozygote allele carriers in Huntington disease.

Cubo E, Martinez-Horta SI, Santalo FS, Descalls AM, Calvo S, Gil-Polo C, Muñoz I, Llano K, Mariscal N, Diaz D, Gutierrez A, Aguado L, Ramos-Arroyo MA; European HD Network.

Neurology. 2019 Apr 30;92(18):e2101-e2108. doi: 10.1212/WNL.0000000000007147. Epub 2019 Mar 13.

PMID:
30867264
4.

Observational study of newborn infant parasympathetic evaluation as a comfort system in awake patients admitted to a pediatric intensive care unit.

Valencia-Ramos J, Arnaez J, Calvo S, Gomez F, Del Blanco I.

J Clin Monit Comput. 2019 Feb 5. doi: 10.1007/s10877-019-00268-1. [Epub ahead of print]

PMID:
30721390
5.

Widespread Chromosomal Losses and Mitochondrial DNA Alterations as Genetic Drivers in Hürthle Cell Carcinoma.

Gopal RK, Kübler K, Calvo SE, Polak P, Livitz D, Rosebrock D, Sadow PM, Campbell B, Donovan SE, Amin S, Gigliotti BJ, Grabarek Z, Hess JM, Stewart C, Braunstein LZ, Arndt PF, Mordecai S, Shih AR, Chaves F, Zhan T, Lubitz CC, Kim J, Iafrate AJ, Wirth L, Parangi S, Leshchiner I, Daniels GH, Mootha VK, Dias-Santagata D, Getz G, McFadden DG.

Cancer Cell. 2018 Aug 13;34(2):242-255.e5. doi: 10.1016/j.ccell.2018.06.013.

PMID:
30107175
6.

Adiponectin gene variant RS rs266729: Relation to lipid profile changes and circulating adiponectin after bariatric surgery.

de Luis DA, Calvo SG, Pacheco D, Ovalle HF, Aller R.

Surg Obes Relat Dis. 2018 Sep;14(9):1402-1408. doi: 10.1016/j.soard.2018.06.006. Epub 2018 Jul 12.

PMID:
30037702
7.

GeNets: a unified web platform for network-based genomic analyses.

Li T, Kim A, Rosenbluh J, Horn H, Greenfeld L, An D, Zimmer A, Liberzon A, Bistline J, Natoli T, Li Y, Tsherniak A, Narayan R, Subramanian A, Liefeld T, Wong B, Thompson D, Calvo S, Carr S, Boehm J, Jaffe J, Mesirov J, Hacohen N, Regev A, Lage K.

Nat Methods. 2018 Jul;15(7):543-546. doi: 10.1038/s41592-018-0039-6. Epub 2018 Jun 18.

8.

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK, Calvo SE, Shih AR, Chaves FL, McGuone D, Mick E, Pierce KA, Li Y, Garofalo A, Van Allen EM, Clish CB, Oliva E, Mootha VK.

Proc Natl Acad Sci U S A. 2018 Jul 3;115(27):E6283-E6290. doi: 10.1073/pnas.1711888115. Epub 2018 Jun 18.

9.

The effect of dry needling on spasticity, gait and muscle architecture in patients with chronic stroke: A case series study.

Hadi S, Khadijeh O, Hadian M, Niloofar AY, Olyaei G, Hossein B, Calvo S, Herrero P.

Top Stroke Rehabil. 2018 Jul;25(5):326-332. doi: 10.1080/10749357.2018.1460946. Epub 2018 Apr 23.

PMID:
29683410
10.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. No abstract available.

11.

A 21-Year Retrospective Study of the Toronto Western Hospital Deep Brain Stimulation Cohort.

Cubo E, Rajalingam R, Fasano A, Munhoz RP, Lang AE, Calvo S, Marras C.

Mov Disord. 2018 May;33(5):850-852. doi: 10.1002/mds.27359. Epub 2018 Mar 23. No abstract available.

PMID:
29570864
12.

Spatiotemporal compartmentalization of hepatic NADH and NADPH metabolism.

Goodman RP, Calvo SE, Mootha VK.

J Biol Chem. 2018 May 18;293(20):7508-7516. doi: 10.1074/jbc.TM117.000258. Epub 2018 Mar 7. Review.

13.

Corrigendum to "Mortality and morbidity among hospitalized adult patients with neurological diseases in Cameroon" [J. Neurol. Sci. 381C (2017) 156-168].

Kompoliti K, Doumbe J, Mapoure YN, Nyinyikua T, Ouyang B, Shah H, Calvo S, Fernandez-Sierra A, Cubo E.

J Neurol Sci. 2018 Feb 15;385:237. doi: 10.1016/j.jns.2017.12.001. Epub 2017 Dec 21. No abstract available.

PMID:
29274952
14.

[Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain].

Arnaez J, Garcia-Alix A, Calvo S, Lubián-López S; Grupo de Trabajo ESP-EHI.

An Pediatr (Barc). 2018 Oct;89(4):211-221. doi: 10.1016/j.anpedi.2017.11.003. Epub 2017 Dec 11. Spanish.

15.

Mortality and morbidity among hospitalized adult patients with neurological diseases in Cameroon.

Kompoliti K, Doumbe J, Mapoure YN, Nyinyikua T, Ouyang B, Shah H, Calvo S, Fernandez-Sierra A, Delgado MEC.

J Neurol Sci. 2017 Oct 15;381:165-168. doi: 10.1016/j.jns.2017.08.3245. Epub 2017 Aug 23. Erratum in: J Neurol Sci. 2017 Dec 20;:.

PMID:
28991673
16.

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.

17.

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.

18.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.

Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Erratum in: Am J Hum Genet. 2018 Apr 5;102(4):713.

19.

The Association of Poor Academic Performance with Tic Disorders: A Longitudinal, Mainstream School-Based Population Study.

Cubo E, Gonzalez C, Ausin V, Delgado V, Saez S, Calvo S, Garcia Soto X, Cordero J, Kompoliti K, Louis ED, de la Fuente Anuncibay R.

Neuroepidemiology. 2017;48(3-4):155-163. doi: 10.1159/000479517. Epub 2017 Jul 29.

PMID:
28768287
20.

CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets.

Li Y, Jourdain AA, Calvo SE, Liu JS, Mootha VK.

PLoS Comput Biol. 2017 Jul 18;13(7):e1005653. doi: 10.1371/journal.pcbi.1005653. eCollection 2017 Jul.

21.

Interferon-free treatments in patients with hepatitis C genotype 1-4 infections in a real-world setting.

Ramos H, Linares P, Badia E, Martín I, Gómez J, Almohalla C, Jorquera F, Calvo S, García I, Conde P, Álvarez B, Karpman G, Lorenzo S, Gozalo V, Vásquez M, Joao D, de Benito M, Ruiz L, Jiménez F, Sáez-Royuela F, Asociación Castellano Y Leonesa de Hepatología ACyLHE.

World J Gastrointest Pharmacol Ther. 2017 May 6;8(2):137-146. doi: 10.4292/wjgpt.v8.i2.137.

22.

Factors associated with Mediterranean diet adherence in Huntington's disease.

Rivadeneyra J, Cubo E, Gil C, Calvo S, Mariscal N, Martínez A.

Clin Nutr ESPEN. 2016 Apr;12:e7-e13. doi: 10.1016/j.clnesp.2016.01.001. Epub 2016 Mar 5.

PMID:
28531758
23.

Contributions of trace elements to the sea by small uncontaminated rivers: Effects of a water reservoir and a wastewater treatment plant.

Álvarez-Vázquez MÁ, Prego R, Caetano M, De Uña-Álvarez E, Doval M, Calvo S, Vale C.

Chemosphere. 2017 Jul;178:173-186. doi: 10.1016/j.chemosphere.2017.03.053. Epub 2017 Mar 15.

PMID:
28324839
24.

The Burden of Movement Disorders in Cameroon: A Rural and Urban-Based Inpatient/Outpatient Study.

Cubo E, Doumbe J, Mapoure Njankouo Y, Nyinyikua T, Kuate C, Ouyang B, Shah H, Calvo S, Fernandez-Sierra A, Kompoliti K, Njiengwe E, Louis ED.

Mov Disord Clin Pract. 2017 Mar 11;4(4):568-573. doi: 10.1002/mdc3.12474. eCollection 2017 Jul-Aug.

25.

Comparative Analysis of Mitochondrial N-Termini from Mouse, Human, and Yeast.

Calvo SE, Julien O, Clauser KR, Shen H, Kamer KJ, Wells JA, Mootha VK.

Mol Cell Proteomics. 2017 Apr;16(4):512-523. doi: 10.1074/mcp.M116.063818. Epub 2017 Jan 25.

26.
27.

A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation.

Arroyo JD, Jourdain AA, Calvo SE, Ballarano CA, Doench JG, Root DE, Mootha VK.

Cell Metab. 2016 Dec 13;24(6):875-885. doi: 10.1016/j.cmet.2016.08.017. Epub 2016 Sep 22.

28.

Clinical manifestations of intermediate allele carriers in Huntington disease.

Cubo E, Ramos-Arroyo MA, Martinez-Horta S, Martínez-Descalls A, Calvo S, Gil-Polo C; European HD Network.

Neurology. 2016 Aug 9;87(6):571-8. doi: 10.1212/WNL.0000000000002944. Epub 2016 Jul 8.

PMID:
27402890
29.

Information Needs in the Precision Medicine Era: How Genetics Home Reference Can Help.

Collins H, Calvo S, Greenberg K, Forman Neall L, Morrison S.

Interact J Med Res. 2016 Apr 27;5(2):e13. doi: 10.2196/ijmr.5199.

30.

Prospective study on cost-effectiveness of home-based motor assessment in Parkinson's disease.

Cubo E, Mariscal N, Solano B, Becerra V, Armesto D, Calvo S, Arribas J, Seco J, Martinez A, Zorrilla L, Heldman D.

J Telemed Telecare. 2017 Feb;23(2):328-338. doi: 10.1177/1357633X16638971. Epub 2016 Jul 8.

PMID:
27000142
31.

Evaluation of advanced fibrosis measured by transient elastography after hepatitis C virus protease inhibitor-based triple therapy.

Sáez-Royuela F, Linares P, Cervera LA, Almohalla C, Jorquera F, Lorenzo S, García I, Karpman G, Badia E, Vallecillo MA, Moncada A, Calvo S, Olcoz JL; Castile and Leon Hepatology Association (ACyLHE).

Eur J Gastroenterol Hepatol. 2016 Mar;28(3):305-12. doi: 10.1097/MEG.0000000000000533.

PMID:
26636405
32.

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins.

Calvo SE, Clauser KR, Mootha VK.

Nucleic Acids Res. 2016 Jan 4;44(D1):D1251-7. doi: 10.1093/nar/gkv1003. Epub 2015 Oct 7.

33.

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

Fassone E, Duncan AJ, Taanman JW, Pagnamenta AT, Sadowski MI, Holand T, Qasim W, Rutland P, Calvo SE, Mootha VK, Bitner-Glindzicz M, Rahman S.

Hum Mol Genet. 2015 Jul 15;24(14):4183. doi: 10.1093/hmg/ddv164. Epub 2015 May 28. No abstract available.

34.

The endocrinology of taste receptors.

Calvo SS, Egan JM.

Nat Rev Endocrinol. 2015 Apr;11(4):213-27. doi: 10.1038/nrendo.2015.7. Epub 2015 Feb 24. Review.

35.

Apoptotic efficacy of etomoxir in human acute myeloid leukemia cells. Cooperation with arsenic trioxide and glycolytic inhibitors, and regulation by oxidative stress and protein kinase activities.

Estañ MC, Calviño E, Calvo S, Guillén-Guío B, Boyano-Adánez Mdel C, de Blas E, Rial E, Aller P.

PLoS One. 2014 Dec 15;9(12):e115250. doi: 10.1371/journal.pone.0115250. eCollection 2014.

36.

Lulwoana sp., a dark septate endophyte in roots of Posidonia oceanica (L.) Delile seagrass.

Torta L, Lo Piccolo S, Piazza G, Burruano S, Colombo P, Ottonello D, Perrone R, Di Maida G, Pirrotta M, Tomasello A, Calvo S.

Plant Biol (Stuttg). 2015 Mar;17(2):505-11. doi: 10.1111/plb.12246. Epub 2014 Sep 29.

PMID:
25262834
37.

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T.

Neurogenetics. 2015 Jan;16(1):1-9. doi: 10.1007/s10048-014-0421-1. Epub 2014 Sep 6.

38.

Expansion of biological pathways based on evolutionary inference.

Li Y, Calvo SE, Gutman R, Liu JS, Mootha VK.

Cell. 2014 Jul 3;158(1):213-25. doi: 10.1016/j.cell.2014.05.034.

39.

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.

Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK.

BMC Med Genet. 2014 Mar 6;15:30. doi: 10.1186/1471-2350-15-30.

40.

CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.

Strittmatter L, Li Y, Nakatsuka NJ, Calvo SE, Grabarek Z, Mootha VK.

Hum Mol Genet. 2014 May 1;23(9):2313-23. doi: 10.1093/hmg/ddt624. Epub 2013 Dec 11.

41.

EMRE is an essential component of the mitochondrial calcium uniporter complex.

Sancak Y, Markhard AL, Kitami T, Kovács-Bogdán E, Kamer KJ, Udeshi ND, Carr SA, Chaudhuri D, Clapham DE, Li AA, Calvo SE, Goldberger O, Mootha VK.

Science. 2013 Dec 13;342(6164):1379-82. doi: 10.1126/science.1242993. Epub 2013 Nov 14.

42.

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.

43.

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.

44.

Effect of different substrata on rhizome growth, leaf biometry and shoot density of Posidonia oceanica.

Di Maida G, Tomasello A, Sciandra M, Pirrotta M, Milazzo M, Calvo S.

Mar Environ Res. 2013 Jun-Jul;87-88:96-102. doi: 10.1016/j.marenvres.2013.04.001. Epub 2013 Apr 12.

PMID:
23643476
45.

Targeted exome sequencing of suspected mitochondrial disorders.

Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK.

Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.

46.

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H.

Nat Genet. 2013 Feb;45(2):214-9. doi: 10.1038/ng.2501. Epub 2013 Jan 13.

47.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M.

Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4.

48.

Flowers and inflorescences of the seagrass Posidonia (Posidoniaceae, Alismatales).

Remizowa MV, Sokoloff DD, Calvo S, Tomasello A, Rudall PJ.

Am J Bot. 2012 Oct;99(10):1592-608. doi: 10.3732/ajb.1200227. Epub 2012 Oct 2.

49.

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.

50.

Comparative RNA editing in autistic and neurotypical cerebella.

Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM.

Mol Psychiatry. 2013 Sep;18(9):1041-8. doi: 10.1038/mp.2012.118. Epub 2012 Aug 7.

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