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Items: 1 to 20 of 25

1.

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.

Sarzi E, Bourdon A, Chrétien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rötig A.

J Pediatr. 2007 May;150(5):531-4, 534.e1-6.

PMID:
17452231
2.

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.

Oskoui M, Davidzon G, Pascual J, Erazo R, Gurgel-Giannetti J, Krishna S, Bonilla E, De Vivo DC, Shanske S, DiMauro S.

Arch Neurol. 2006 Aug;63(8):1122-6. Review.

PMID:
16908738
3.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
4.

Mitochondrial syndromes with leukoencephalopathies.

Wong LJ.

Semin Neurol. 2012 Feb;32(1):55-61. doi: 10.1055/s-0032-1306387. Epub 2012 Mar 15. Review.

PMID:
22422207
5.

Neonatal muscular manifestations in mitochondrial disorders.

Tulinius M, Oldfors A.

Semin Fetal Neonatal Med. 2011 Aug;16(4):229-35. doi: 10.1016/j.siny.2011.04.001. Epub 2011 May 18. Review.

PMID:
21596636
6.

Mitochondrial respiratory chain disorders and the liver.

Morris AA.

Liver. 1999 Oct;19(5):357-68. Review.

PMID:
10533792
7.

Mitochondrial hepatopathies.

Bandyopadhyay SK, Dutta A.

J Assoc Physicians India. 2005 Nov;53:973-8. Review.

PMID:
16515238
8.

Neuropathology of mitochondrial diseases.

Filosto M, Tomelleri G, Tonin P, Scarpelli M, Vattemi G, Rizzuto N, Padovani A, Simonati A.

Biosci Rep. 2007 Jun;27(1-3):23-30. Review.

PMID:
17541738
9.

Mitochondrial dysfunction in mammalian ageing.

Terzioglu M, Larsson NG.

Novartis Found Symp. 2007;287:197-208; discussion 208-13. Review.

PMID:
18074640
10.

Mitochondrial hepatopathies in the newborn period.

Fellman V, Kotarsky H.

Semin Fetal Neonatal Med. 2011 Aug;16(4):222-8. doi: 10.1016/j.siny.2011.05.002. Epub 2011 Jun 15. Review.

PMID:
21680270
11.

Gastrointestinal manifestations of mitochondrial disease.

Gillis LA, Sokol RJ.

Gastroenterol Clin North Am. 2003 Sep;32(3):789-817, v. Review.

PMID:
14562575
12.

Clinical spectrum and diagnosis of mitochondrial disorders.

Munnich A, Rustin P.

Am J Med Genet. 2001 Spring;106(1):4-17. Review.

PMID:
11579420
13.

Alpers syndrome: progressive neuronal degeneration of children with liver disease.

Gordon N.

Dev Med Child Neurol. 2006 Dec;48(12):1001-3. Review.

14.

Renal disease and mitochondrial genetics.

Rötig A.

J Nephrol. 2003 Mar-Apr;16(2):286-92. Review.

PMID:
12768079
15.

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].

Pronicka E, Piekutowska-Abramczuk D, Pronicki M.

Postepy Biochem. 2008;54(2):161-8. Review. Polish.

PMID:
18807927
16.

[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
17.

Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism.

Eriksson S, Wang L.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):800-8. doi: 10.1080/15257770802146197. Review.

PMID:
18600543
18.

Pearson syndrome in the neonatal period: two case reports and review of the literature.

Manea EM, Leverger G, Bellmann F, Stanescu PA, Mircea A, Lèbre AS, Rötig A, Munnich A.

J Pediatr Hematol Oncol. 2009 Dec;31(12):947-51. doi: 10.1097/MPH.0b013e3181bbc4ef. Review.

PMID:
19881395
19.

Morphological correlates of mitochondrial dysfunction in children.

Chow CW, Thorburn DR.

Hum Reprod. 2000 Jul;15 Suppl 2:68-78. Review.

PMID:
11041514
20.

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Poulton J, Hirano M, Spinazzola A, Arenas Hernandez M, Jardel C, Lombès A, Czermin B, Horvath R, Taanman JW, Rotig A, Zeviani M, Fratter C.

Biochim Biophys Acta. 2009 Dec;1792(12):1109-12. doi: 10.1016/j.bbadis.2009.08.016. Epub 2009 Sep 11. Review.

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