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Items: 1 to 20 of 24

1.

EX-HOM (EXome HOMozygosity): a proof of principle.

Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G.

Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18.

2.

Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C.

Am J Hum Genet. 2011 Mar 11;88(3):362-71. doi: 10.1016/j.ajhg.2011.01.015. Epub 2011 Feb 25.

3.

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

Miller C, Wang L, Ostergaard E, Dan P, Saada A.

Biochim Biophys Acta. 2011 May;1812(5):625-9. doi: 10.1016/j.bbadis.2011.01.013. Epub 2011 Feb 2.

4.

SOAP2: an improved ultrafast tool for short read alignment.

Li R, Yu C, Li Y, Lam TW, Yiu SM, Kristiansen K, Wang J.

Bioinformatics. 2009 Aug 1;25(15):1966-7. doi: 10.1093/bioinformatics/btp336. Epub 2009 Jun 3.

PMID:
19497933
5.

SNP detection for massively parallel whole-genome resequencing.

Li R, Li Y, Fang X, Yang H, Wang J, Kristiansen K, Wang J.

Genome Res. 2009 Jun;19(6):1124-32. doi: 10.1101/gr.088013.108. Epub 2009 May 6.

6.

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

Spinazzola A, Zeviani M.

J Intern Med. 2009 Feb;265(2):174-92. doi: 10.1111/j.1365-2796.2008.02059.x.

7.

A mitochondrial protein compendium elucidates complex I disease biology.

Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK.

Cell. 2008 Jul 11;134(1):112-23. doi: 10.1016/j.cell.2008.06.016.

8.

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

Sarzi E, Goffart S, Serre V, Chrétien D, Slama A, Munnich A, Spelbrink JN, Rötig A.

Ann Neurol. 2007 Dec;62(6):579-87.

PMID:
17722119
9.

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F.

Am J Hum Genet. 2007 Aug;81(2):383-7. Epub 2007 Jun 4.

10.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A.

Nat Genet. 2007 Jun;39(6):776-80. Epub 2007 May 7.

PMID:
17486094
11.

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
12.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.

Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14.

PMID:
17301081
13.

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M.

Brain. 2007 Mar;130(Pt 3):853-61. Epub 2007 Feb 7.

PMID:
17287286
14.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.

Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2.

PMID:
16582910
15.

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A.

Am J Hum Genet. 2005 Jun;76(6):1081-6. Epub 2005 Apr 22.

16.

Clinical and molecular findings in children with complex I deficiency.

Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G, Zeviani M.

Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47.

17.

Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues.

Lambeth DO, Tews KN, Adkins S, Frohlich D, Milavetz BI.

J Biol Chem. 2004 Aug 27;279(35):36621-4. Epub 2004 Jul 2.

18.

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Naviaux RK, Nguyen KV.

Ann Neurol. 2004 May;55(5):706-12.

PMID:
15122711
19.

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM.

Nucleic Acids Res. 2002 Jul 15;30(14):e68.

20.

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O.

Nat Genet. 2001 Nov;29(3):342-4.

PMID:
11687801

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