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Items: 1 to 20 of 29

1.

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.

PMID:
27436875
2.

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):749-54. doi: 10.1016/j.stem.2016.04.001. Epub 2016 May 19.

PMID:
27212703
3.

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.

4.

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
5.

Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

Emmanuele V, Kubota A, Garcia-Diaz B, Garone C, Akman HO, Sánchez-Gutiérrez D, Escudero LM, Kariya S, Homma S, Tanji K, Quinzii CM, Hirano M.

Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.

6.

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.

7.

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.

8.

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.

9.

Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants.

Paull D, Emmanuele V, Weiss KA, Treff N, Stewart L, Hua H, Zimmer M, Kahler DJ, Goland RS, Noggle SA, Prosser R, Hirano M, Sauer MV, Egli D.

Nature. 2013 Jan 31;493(7434):632-7. doi: 10.1038/nature11800. Epub 2012 Dec 19.

PMID:
23254936
10.

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

Quinzii CM, Garone C, Emmanuele V, Tadesse S, Krishna S, Dorado B, Hirano M.

FASEB J. 2013 Feb;27(2):612-21. doi: 10.1096/fj.12-209361. Epub 2012 Nov 12.

11.

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.

12.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

Emmanuele V, Sotiriou E, Rios PG, Ganesh J, Ichord R, Foley AR, Akman HO, Dimauro S.

J Child Neurol. 2013 Feb;28(2):236-42. doi: 10.1177/0883073812445787. Epub 2012 May 25.

13.

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.

Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M.

Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Review. Erratum in: Arch Neurol. 2012 Jul;69(7):886. López, Luis [corrected to López, Luis C].

14.

Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS.

Emmanuele V, Garcia-Cazorla A, Huang HB, Coku J, Dorado B, Cortes EP, Engelstad K, De Vivo DC, Dimauro S, Bonilla E, Tanji K.

J Neurol Sci. 2012 Jun 15;317(1-2):29-34. doi: 10.1016/j.jns.2012.03.005. Epub 2012 Apr 5.

15.

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Emmanuele V, Silvers DS, Sotiriou E, Tanji K, DiMauro S, Hirano M.

Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.

16.

Retinopathy screening in patients with type 1 diabetes diagnosed in young age using a non-mydriatic digital stereoscopic retinal imaging.

Minuto N, Emmanuele V, Vannati M, Russo C, Rebora C, Panarello S, Pistorio A, Lorini R, d'Annunzio G.

J Endocrinol Invest. 2012 Apr;35(4):389-94. doi: 10.3275/8016. Epub 2011 Oct 6.

PMID:
21985859
17.

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNA(Ile) mutation.

Emmanuele V, Sotiriou E, Shirazi M, Tanji K, Haller RG, Heinicke K, Bosch PE, Hirano M, DiMauro S.

J Neurol Sci. 2011 Apr 15;303(1-2):39-42. doi: 10.1016/j.jns.2011.01.018. Epub 2011 Feb 15.

18.

Potential celiac disease in type 1 diabetes: a multicenter study.

Franzese A, Iafusco D, Spadaro R, Cavaliere O, Prisco F, Auricchio R, Troncone R, Valerio G; Study-Group on Diabetes of Italian Society of Pediatric Endocrinology and Diabetology..

Diabetes Res Clin Pract. 2011 Apr;92(1):53-6. doi: 10.1016/j.diabres.2010.12.028. Epub 2011 Jan 15.

PMID:
21239079
19.

Diabetic ketoacidosis caused by exposure of insulin to low temperature.

Minuto N, Tambroni B, Vannati M, Emmanuele V, Russo C, Lorini R, d'Annunzio G.

Diabetes Technol Ther. 2010 Sep;12(9):745-6. doi: 10.1089/dia.2010.0055. No abstract available.

PMID:
20687866
20.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

Coku J, Shanske S, Mehrazin M, Tanji K, Naini A, Emmanuele V, Patterson M, Hirano M, DiMauro S.

J Neurol Sci. 2010 Mar 15;290(1-2):166-8. doi: 10.1016/j.jns.2009.12.001. Epub 2009 Dec 22.

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