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Items: 1 to 20 of 53

1.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PMID:
25058219
2.

Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.

Wu L, Peng J, Ma Y, He F, Deng X, Wang G, Lifen Y, Yin F.

Mitochondrial DNA A DNA Mapp Seq Anal. 2016;27(2):1034-7. doi: 10.3109/19401736.2014.926543. Epub 2014 Jun 25.

PMID:
24963768
3.

Diagnostic clinical genome and exome sequencing.

Biesecker LG, Green RC.

N Engl J Med. 2014 Jun 19;370(25):2418-25. doi: 10.1056/NEJMra1312543. Review. No abstract available.

PMID:
24941179
4.

Mitochondrial dysfunction in central nervous system white matter disorders.

Morató L, Bertini E, Verrigni D, Ardissone A, Ruiz M, Ferrer I, Uziel G, Pujol A.

Glia. 2014 Nov;62(11):1878-94. doi: 10.1002/glia.22670. Epub 2014 May 28. Review.

PMID:
24865954
5.

The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

Scarpelli M, Ricciardi GK, Beltramello A, Zocca I, Calabria F, Russignan A, Zappini F, Cotelli MS, Padovani A, Tomelleri G, Filosto M, Tonin P.

Neuroradiol J. 2013 Oct;26(5):520-30. Epub 2013 Nov 7.

6.

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.

7.

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R.

J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):936-8. doi: 10.1136/jnnp-2012-303528. Epub 2013 Jan 25.

PMID:
23355809
8.

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring.

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, Chinnery PF, Smeets HJ.

Hum Reprod Update. 2012 Jul;18(4):341-9. doi: 10.1093/humupd/dms008. Epub 2012 Mar 28. Review.

PMID:
22456975
9.

Monogenic mitochondrial disorders.

Koopman WJ, Willems PH, Smeitink JA.

N Engl J Med. 2012 Mar 22;366(12):1132-41. doi: 10.1056/NEJMra1012478. Review. No abstract available.

PMID:
22435372
10.

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM.

Nature. 2010 May 6;465(7294):82-5. doi: 10.1038/nature08958. Epub 2010 Apr 14.

11.

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Battista V, Koenigsberger DY, Pascual JM, Sano M, Hirano M, DiMauro S, Shungu DC, Mao X, De Vivo DC.

Arch Neurol. 2009 Jan;66(1):85-91. doi: 10.1001/archneurol.2008.526.

PMID:
19139304
12.

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M.

Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11. Erratum in: Nat Med. 2009 Feb;15(2):220.

PMID:
19136963
13.

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T.

Brain. 2008 Nov;131(Pt 11):2832-40. doi: 10.1093/brain/awn252.

PMID:
18984605
14.

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, Haller RG, Turnbull DM.

Brain. 2006 Dec;129(Pt 12):3391-401. Epub 2006 Nov 3.

PMID:
17085458
15.

Treatment for mitochondrial disorders.

Chinnery P, Majamaa K, Turnbull D, Thorburn D.

Cochrane Database Syst Rev. 2006 Jan 25;(1):CD004426. Review. Update in: Cochrane Database Syst Rev. 2012;4:CD004426.

PMID:
16437486
16.

Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

Scaglia F, Wong LJ, Vladutiu GD, Hunter JV.

AJNR Am J Neuroradiol. 2005 Aug;26(7):1675-80. Erratum in: AJNR Am J Neuroradiol. 2005 Sep;26(8):2165.

17.

Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies.

Barragán-Campos HM, Vallée JN, Lô D, Barrera-Ramírez CF, Argote-Greene M, Sánchez-Guerrero J, Estañol B, Guillevin R, Chiras J.

Arch Neurol. 2005 May;62(5):737-42.

PMID:
15883260
18.

Risk of developing a mitochondrial DNA deletion disorder.

Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JN, Turnbull DM.

Lancet. 2004 Aug 14-20;364(9434):592-6.

PMID:
15313359
19.

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

Tay SK, Shanske S, Kaplan P, DiMauro S.

Arch Neurol. 2004 Jun;61(6):950-2.

PMID:
15210538
20.

Prevalence and progression of mitochondrial diseases: a study of 50 patients.

Arpa J, Cruz-Martínez A, Campos Y, Gutiérrez-Molina M, García-Rio F, Pérez-Conde C, Martín MA, Rubio JC, Del Hoyo P, Arpa-Fernández A, Arenas J.

Muscle Nerve. 2003 Dec;28(6):690-5.

PMID:
14639582

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