Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 66

1.

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.

2.

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.

PMID:
27651038
3.

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.

4.

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Garcia-Diaz B, Barca E, Balreira A, Lopez LC, Tadesse S, Krishna S, Naini A, Mariotti C, Castellotti B, Quinzii CM.

Hum Mol Genet. 2015 Aug 15;24(16):4516-29. doi: 10.1093/hmg/ddv183. Epub 2015 May 14.

5.

The synthesis and biological evaluation of desepoxyisotedanolide and a comparison with desepoxytedanolide.

Naini A, Muthukumar Y, Raja A, Franke R, Harrier I, Smith AB 3rd, Lee D, Taylor RE, Sasse F, Kalesse M.

Angew Chem Int Ed Engl. 2015 Jun 1;54(23):6935-9. doi: 10.1002/anie.201501526. Epub 2015 Apr 27.

PMID:
25914374
6.

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.

7.

Cerebellar Ataxia and CoQ10 Deficiency.

Quinzii CM, Hirano M, Naini A.

J Neurol Disord Stroke. 2013;1(1):1004. No abstract available.

8.

Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?

Lamarca NH, Golden L, John RM, Naini A, Vivo DC, Sproule DM.

J Child Neurol. 2013 Nov;28(11):1517-1520. Epub 2012 Oct 3.

PMID:
23034979
9.

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.

10.

Lack of effect of coenzyme q10 on doxorubicin cytotoxicity in breast cancer cell cultures.

Greenlee H, Shaw J, Lau YI, Naini A, Maurer M.

Integr Cancer Ther. 2012 Sep;11(3):243-50. doi: 10.1177/1534735412439749. Epub 2012 Apr 26.

11.

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

Shanske S, Naini A, Chmait RH, Akman HO, Mansukhani M, Lu J, Hirano M, DiMauro S.

J Child Neurol. 2013 Feb;28(2):264-8. doi: 10.1177/0883073812441067. Epub 2012 Apr 24.

12.

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].

13.

Coenzyme Q10 levels are low and associated with increased mortality in post-cardiac arrest patients.

Cocchi MN, Giberson B, Berg K, Salciccioli JD, Naini A, Buettner C, Akuthota P, Gautam S, Donnino MW.

Resuscitation. 2012 Aug;83(8):991-5. doi: 10.1016/j.resuscitation.2012.03.023. Epub 2012 Mar 28.

14.

Synthesis of simplified tedanolide analogues--connecting tedanolide to myriaporone and gephyronic acid.

Diaz N, Naini A, Muthukumar Y, Sasse F, Kalesse M.

ChemMedChem. 2012 May;7(5):771-5. doi: 10.1002/cmdc.201100576. Epub 2012 Mar 1.

PMID:
22383258
15.

Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts.

Quinzii CM, Tadesse S, Naini A, Hirano M.

PLoS One. 2012;7(2):e30606. doi: 10.1371/journal.pone.0030606. Epub 2012 Feb 16.

16.

A Kiyooka aldol approach for the synthesis of the C(14)-C(23) segment of the diastereomeric analog of tedanolide C.

Bülow L, Naini A, Fohrer J, Kalesse M.

Org Lett. 2011 Nov 18;13(22):6038-41. doi: 10.1021/ol202515x. Epub 2011 Oct 25.

PMID:
22026452
17.

Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children.

Brogly SB, DiMauro S, Van Dyke RB, Williams PL, Naini A, Libutti DE, Choi J, Chung M, Gerschenson M.

AIDS Res Hum Retroviruses. 2011 Jul;27(7):777-83. doi: 10.1089/AID.2010.0204. Epub 2011 Jan 15.

18.

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects.

López LC, Quinzii CM, Area E, Naini A, Rahman S, Schuelke M, Salviati L, Dimauro S, Hirano M.

PLoS One. 2010 Jul 30;5(7):e11897. doi: 10.1371/journal.pone.0011897.

19.

Metabolic myopathies.

DiMauro S, Garone C, Naini A.

Curr Rheumatol Rep. 2010 Oct;12(5):386-93. doi: 10.1007/s11926-010-0119-9.

PMID:
20676808
20.

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S.

Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332.

Supplemental Content

Loading ...
Support Center