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Items: 1 to 20 of 139

1.

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.

Prasad C, Melançon SB, Rupar CA, Prasad AN, Nunez LD, Rosenblatt DS, Majewski J.

Mol Genet Metab. 2013 Mar;108(3):190-4. doi: 10.1016/j.ymgme.2012.12.007. Epub 2012 Dec 31.

PMID:
23375728
2.

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
3.

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ.

Mol Genet Metab. 2010 Mar;99(3):300-8. doi: 10.1016/j.ymgme.2009.10.003. Epub 2009 Oct 13.

PMID:
20074988
4.

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T.

Brain. 2007 Nov;130(Pt 11):3032-40. Epub 2007 Oct 5.

PMID:
17921179
5.

Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.

Tulinius M, Moslemi AR, Darin N, Holme E, Oldfors A.

Neuromuscul Disord. 2005 Jun;15(6):412-5.

PMID:
15907288
6.

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.

Mancuso M, Filosto M, Bonilla E, Hirano M, Shanske S, Vu TH, DiMauro S.

Arch Neurol. 2003 Jul;60(7):1007-9.

PMID:
12873860
7.

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L.

Hum Mol Genet. 2005 Oct 15;14(20):2981-90. Epub 2005 Aug 31.

PMID:
16135556
8.

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E.

Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28.

PMID:
23829229
9.

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.

Götz A, Isohanni P, Pihko H, Paetau A, Herva R, Saarenpää-Heikkilä O, Valanne L, Marjavaara S, Suomalainen A.

Brain. 2008 Nov;131(Pt 11):2841-50. doi: 10.1093/brain/awn236. Epub 2008 Sep 26.

PMID:
18819985
10.

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Baloh RH, Salavaggione E, Milbrandt J, Pestronk A.

Arch Neurol. 2007 Jul;64(7):998-1000.

PMID:
17620490
11.

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, Jalanko A, Spelbrink JN, Paetau A, Suomalainen A.

Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17687-92. Epub 2005 Nov 21.

12.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.

Varma H, Faust PL, Iglesias AD, Lagana SM, Wou K, Hirano M, DiMauro S, Mansukani MM, Hoff KE, Nagy PL, Copeland WC, Naini AB.

Eur J Med Genet. 2016 Oct;59(10):540-5. doi: 10.1016/j.ejmg.2016.08.012. Epub 2016 Aug 31.

13.

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.

Maalej M, Mkaouar-Rebai E, Mnif M, Mezghani N, Ben Ayed I, Chamkha I, Abid M, Fakhfakh F.

Pathol Biol (Paris). 2014 Feb;62(1):41-8. doi: 10.1016/j.patbio.2013.07.013. Epub 2013 Sep 4.

PMID:
24011957
14.

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

Morino H, Pierce SB, Matsuda Y, Walsh T, Ohsawa R, Newby M, Hiraki-Kamon K, Kuramochi M, Lee MK, Klevit RE, Martin A, Maruyama H, King MC, Kawakami H.

Neurology. 2014 Nov 25;83(22):2054-61. doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29.

15.

Recessive twinkle mutations cause severe epileptic encephalopathy.

Lönnqvist T, Paetau A, Valanne L, Pihko H.

Brain. 2009 Jun;132(Pt 6):1553-62. doi: 10.1093/brain/awp045. Epub 2009 Mar 20.

PMID:
19304794
16.

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

Janer A, Antonicka H, Lalonde E, Nishimura T, Sasarman F, Brown GK, Brown RM, Majewski J, Shoubridge EA.

Am J Hum Genet. 2012 Oct 5;91(4):737-43. doi: 10.1016/j.ajhg.2012.08.020. Epub 2012 Sep 27.

17.

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Kiliç M, Sivri HS, Dursun A, Tokatli A, De Meirleir L, Seneca S, Akçören Z, Yiğit S, Topaloğlu H, Coşkun T.

Turk J Pediatr. 2011 Jan-Feb;53(1):79-82.

PMID:
21534344
18.

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S.

Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Review.

PMID:
25899669
19.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.

20.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D.

Mol Genet Metab. 2012 Nov;107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7.

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