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Items: 1 to 20 of 96

1.

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V.

J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11.

2.

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.

3.

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ.

Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2.

PMID:
23463613
4.

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
5.

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder.

Treff NR, Campos J, Tao X, Levy B, Ferry KM, Scott RT Jr.

Fertil Steril. 2012 Nov;98(5):1236-40. doi: 10.1016/j.fertnstert.2012.07.1119. Epub 2012 Aug 21.

PMID:
22921075
6.

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.

7.

The psychiatric manifestations of mitochondrial disorders: a case and review of the literature.

Anglin RE, Garside SL, Tarnopolsky MA, Mazurek MF, Rosebush PI.

J Clin Psychiatry. 2012 Apr;73(4):506-12. doi: 10.4088/JCP.11r07237. Review.

PMID:
22579150
8.

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient.

Scarpelli M, Zappini F, Filosto M, Russignan A, Tonin P, Tomelleri G.

Genet Res Int. 2012;2012:287432. doi: 10.1155/2012/287432. Epub 2012 Feb 20.

9.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

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

Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16.

10.

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R.

Hum Mutat. 2011 Nov;32(11):1319-25. doi: 10.1002/humu.21575. Epub 2011 Sep 19.

PMID:
21882289
11.

New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS).

Calvaruso MA, Willemsen MA, Rodenburg RJ, van den Brand M, Smeitink JA, Nijtmans L.

Mitochondrion. 2011 Sep;11(5):778-82. doi: 10.1016/j.mito.2011.06.004. Epub 2011 Jun 17.

PMID:
21704194
12.

MELAS: a nationwide prospective cohort study of 96 patients in Japan.

Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, Kakuma T, Koga Y; Taro Matsuoka for MELAS Study Group in Japan.

Biochim Biophys Acta. 2012 May;1820(5):619-24. doi: 10.1016/j.bbagen.2011.03.015. Epub 2011 Apr 2.

PMID:
21443929
13.

Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.

Monnot S, Gigarel N, Samuels DC, Burlet P, Hesters L, Frydman N, Frydman R, Kerbrat V, Funalot B, Martinovic J, Benachi A, Feingold J, Munnich A, Bonnefont JP, Steffann J.

Hum Mutat. 2011 Jan;32(1):116-25. doi: 10.1002/humu.21417.

14.

MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.

Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T.

Ann N Y Acad Sci. 2010 Jul;1201:104-10. doi: 10.1111/j.1749-6632.2010.05624.x. Review.

PMID:
20649546
15.

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.

16.

A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation.

Herrero-Martín MD, Ayuso T, Tuñón MT, Martín MA, Ruiz-Pesini E, Montoya J.

J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):471-2. doi: 10.1136/jnnp.2009.173831. No abstract available.

PMID:
20360171
17.

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report.

Abu-Amero KK, Al-Dhalaan H, Bohlega S, Hellani A, Taylor RW.

J Med Case Rep. 2009 Oct 15;3:77. doi: 10.1186/1752-1947-3-77.

18.

A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.

Tam EW, Feigenbaum A, Addis JB, Blaser S, Mackay N, Al-Dosary M, Taylor RW, Ackerley C, Cameron JM, Robinson BH.

Neuropediatrics. 2008 Dec;39(6):328-34. doi: 10.1055/s-0029-1202287. Epub 2009 Jun 30.

PMID:
19568996
19.

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.

Sproule DM, Kaufmann P.

Ann N Y Acad Sci. 2008 Oct;1142:133-58. doi: 10.1196/annals.1444.011. Review. Erratum in: Ann N Y Acad Sci. 2009 Apr;1161:601.

PMID:
18990125
20.

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP.

J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7.

PMID:
18314141

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