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Items: 1 to 20 of 47

1.

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK.

Sci Transl Med. 2012 Jan 25;4(118):118ra10. doi: 10.1126/scitranslmed.3003310.

2.

Next generation molecular diagnosis of mitochondrial disorders.

Wong LJ.

Mitochondrion. 2013 Jul;13(4):379-87. doi: 10.1016/j.mito.2013.02.001. Epub 2013 Mar 6. Review.

PMID:
23473862
3.

Diagnosis and molecular basis of mitochondrial respiratory chain disorders: exome sequencing for disease gene identification.

Ohtake A, Murayama K, Mori M, Harashima H, Yamazaki T, Tamaru S, Yamashita Y, Kishita Y, Nakachi Y, Kohda M, Tokuzawa Y, Mizuno Y, Moriyama Y, Kato H, Okazaki Y.

Biochim Biophys Acta. 2014 Apr;1840(4):1355-9. doi: 10.1016/j.bbagen.2014.01.025. Epub 2014 Jan 24. Review.

4.

Molecular diagnostics of mitochondrial disorders.

Rötig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont JP, Munnich A.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):129-35. Review.

5.

Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories.

Wong LJ.

Neurotherapeutics. 2013 Apr;10(2):262-72. doi: 10.1007/s13311-012-0170-5. Review.

6.

Mitochondrial diseases.

Vu TH, Hirano M, DiMauro S.

Neurol Clin. 2002 Aug;20(3):809-39, vii-viii. Review.

PMID:
12432831
7.

Diagnostic challenges of mitochondrial disorders: complexities of two genomes.

Graham BH.

Methods Mol Biol. 2012;837:35-46. doi: 10.1007/978-1-61779-504-6_3. Review.

PMID:
22215539
8.

Next-generation sequencing for mitochondrial disorders.

Carroll CJ, Brilhante V, Suomalainen A.

Br J Pharmacol. 2014 Apr;171(8):1837-53. doi: 10.1111/bph.12469. Review.

9.

Molecular genetic testing for mitochondrial disease: from one generation to the next.

McCormick E, Place E, Falk MJ.

Neurotherapeutics. 2013 Apr;10(2):251-61. doi: 10.1007/s13311-012-0174-1. Review.

10.

Pathogenic mutations of nuclear genes associated with mitochondrial disorders.

Zhu X, Peng X, Guan MX, Yan Q.

Acta Biochim Biophys Sin (Shanghai). 2009 Mar;41(3):179-87. Review.

11.

Diagnosis of mitochondrial myopathies.

Milone M, Wong LJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):35-41. doi: 10.1016/j.ymgme.2013.07.007. Epub 2013 Jul 17. Review.

PMID:
23911206
12.

[Diagnostic investigations of mitochondrial diseases with neurological symptoms].

Auré K, Lombès A.

Rev Neurol (Paris). 2007 Feb;163(2):254-63. Review. French.

PMID:
17351548
13.

Depletion of mtDNA: syndromes and genes.

Alberio S, Mineri R, Tiranti V, Zeviani M.

Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. Epub 2006 Dec 5. Review.

PMID:
17280874
14.

Lessons from mitochondrial DNA mutations.

DiMauro S.

Semin Cell Dev Biol. 2001 Dec;12(6):397-405. Review.

PMID:
11735374
15.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
16.

Mitochondrial disease: mutations and mechanisms.

McKenzie M, Liolitsa D, Hanna MG.

Neurochem Res. 2004 Mar;29(3):589-600. Review.

PMID:
15038606
17.

Current molecular diagnostic algorithm for mitochondrial disorders.

Wong LJ, Scaglia F, Graham BH, Craigen WJ.

Mol Genet Metab. 2010 Jun;100(2):111-7. doi: 10.1016/j.ymgme.2010.02.024. Epub 2010 Mar 4. Review.

PMID:
20359921
18.

Nuclear gene defects in mitochondrial disorders.

Scaglia F.

Methods Mol Biol. 2012;837:17-34. doi: 10.1007/978-1-61779-504-6_2. Review.

PMID:
22215538
19.

Diagnostic challenges of mitochondrial DNA disorders.

Wong LJ.

Mitochondrion. 2007 Feb-Apr;7(1-2):45-52. Epub 2006 Dec 12. Review.

PMID:
17276740
20.

Infantile-onset disorders of mitochondrial replication and protein synthesis.

Nogueira C, Carrozzo R, Vilarinho L, Santorelli FM.

J Child Neurol. 2011 Jul;26(7):866-75. doi: 10.1177/0883073811402072. Epub 2011 May 13. Review.

PMID:
21572058

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