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Items: 1 to 20 of 208

1.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018.

PMID:
22980518
2.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

3.

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. Review.

PMID:
20558295
4.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M.

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Review.

PMID:
26074369
5.

[Mitochondrial disease and mitochondrial DNA depletion syndromes].

Huang CC, Hsu CH.

Acta Neurol Taiwan. 2009 Dec;18(4):287-95. Review. Chinese.

PMID:
20329599
6.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549.

7.

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009.

PMID:
23932787
8.

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA.

Am J Med Genet A. 2005 Jun 15;135(3):289-91.

PMID:
15887277
9.

Depletion of mtDNA: syndromes and genes.

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

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

PMID:
17280874
10.

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

11.

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M.

J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z.

PMID:
19125351
12.

Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.

Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG.

Mol Genet Metab. 2011 Feb;102(2):149-52. doi: 10.1016/j.ymgme.2010.10.014.

PMID:
21093335
13.

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N.

Nat Genet. 2001 Nov;29(3):337-41. Erratum in: Nat Genet 2001 Dec;29(4):491.

PMID:
11687800
14.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horváth R.

Arch Neurol. 2006 Aug;63(8):1129-34.

PMID:
16908739
15.

Mutation analysis in 16 patients with mtDNA depletion.

Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J.

Hum Mutat. 2003 Apr;21(4):453-4.

PMID:
12655576
16.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J.

Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112.

17.

Disorders caused by deficiency of succinate-CoA ligase.

Ostergaard E.

J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008-0828-7. Review.

PMID:
18392745
18.

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S.

PLoS One. 2016 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500.

19.

Reversion of mtDNA depletion in a patient with TK2 deficiency.

Vilà MR, Segovia-Silvestre T, Gámez J, Marina A, Naini AB, Meseguer A, Lombès A, Bonilla E, DiMauro S, Hirano M, Andreu AL.

Neurology. 2003 Apr 8;60(7):1203-5.

PMID:
12682338
20.

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW.

J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082.

PMID:
24321534
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