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Results: 1 to 20 of 84

1.

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.

Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, N├╝rnberg P, Sander T, Kunz WS.

Neurology. 2014 Dec 2;83(23):2183-7. doi: 10.1212/WNL.0000000000001055. Epub 2014 Oct 31.

PMID:
25361775
2.

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Lorenzoni PJ, Scola RH, Kay CS, Silvado CE, Werneck LC.

Arq Neuropsiquiatr. 2014 Oct;72(10):803-11. Review.

3.

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.

Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.

4.

Inherited peripheral neuropathies due to mitochondrial disorders.

Cassereau J, Codron P, Funalot B.

Rev Neurol (Paris). 2014 May;170(5):366-74. doi: 10.1016/j.neurol.2013.11.005. Epub 2014 Apr 24. Review.

PMID:
24768438
5.

Chemical synthesis of the 5-taurinomethyl(-2-thio)uridine modified anticodon arm of the human mitochondrial tRNA(Leu(UUR)) and tRNA(Lys).

Leszczynska G, Leonczak P, Wozniak K, Malkiewicz A.

RNA. 2014 Jun;20(6):938-47. doi: 10.1261/rna.044412.114. Epub 2014 Apr 22.

PMID:
24757169
6.

Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

Krishna SH, McKinney AM, Lucato LT.

Semin Ultrasound CT MR. 2014 Apr;35(2):160-91. doi: 10.1053/j.sult.2013.10.008. Epub 2013 Oct 23. Review.

PMID:
24745891
7.

Myoclonus in mitochondrial disorders.

Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.

Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.

PMID:
24510442
8.

Effects of carbonic anhydrase-related protein VIII on human cells harbouring an A8344G mitochondrial DNA mutation.

Wang TK, Cheng CK, Chi TH, Ma YS, Wu SB, Wei YH, Hsieh M.

Biochem J. 2014 Apr 1;459(1):149-60. doi: 10.1042/BJ20131235.

PMID:
24476000
9.

Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery.

Chang JC, Liu KH, Chuang CS, Su HL, Wei YH, Kuo SJ, Liu CS.

Cytotherapy. 2013 Dec;15(12):1580-96. doi: 10.1016/j.jcyt.2013.06.008.

PMID:
24199594
10.

Multiple muscle cell alterations in a case of encephalomyopathy.

Fujioka H, Tandler B, Rosca M, McCandless SE, Katirji B, Cohen ML, Rapisuwon S, Hoppel CL.

Ultrastruct Pathol. 2014 Feb;38(1):13-25. doi: 10.3109/01913123.2013.831158. Epub 2013 Oct 17.

PMID:
24134831
11.

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.

Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Caldarazzo Ienco E, Filosto M, Lamperti C, Martinelli D, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FM, Sauchelli D, Scarpelli M, Sciacco M, Spinazzi M, Valentino ML, Vercelli L, Zeviani M, Siciliano G.

Neurology. 2013 May 28;80(22):2049-54. doi: 10.1212/WNL.0b013e318294b44c. Epub 2013 May 1.

PMID:
23635963
12.

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

Zsurka G, Becker F, Heinen M, Gdynia HJ, Lerche H, Kunz WS, Weber YG.

Seizure. 2013 Jul;22(6):483-6. doi: 10.1016/j.seizure.2013.03.003. Epub 2013 Apr 16.

13.

Neuromuscular and systemic presentations in adults: diagnoses beyond MERRF and MELAS.

Cohen BH.

Neurotherapeutics. 2013 Apr;10(2):227-42. doi: 10.1007/s13311-013-0188-3. Review.

14.

Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.

Monnot S, Samuels DC, Hesters L, Frydman N, Gigarel N, Burlet P, Kerbrat V, Lamazou F, Frydman R, Benachi A, Feingold J, Rotig A, Munnich A, Bonnefont JP, Steffann J.

Hum Mol Genet. 2013 May 1;22(9):1867-72. doi: 10.1093/hmg/ddt040. Epub 2013 Feb 5.

15.

Role of taurine in the pathologies of MELAS and MERRF.

Schaffer SW, Jong CJ, Ito T, Azuma J.

Amino Acids. 2014 Jan;46(1):47-56. doi: 10.1007/s00726-012-1414-8. Epub 2012 Nov 20. Review.

PMID:
23179085
16.

FGF21 in ataxia patients with spinocerebellar atrophy and mitochondrial disease.

Su SL, Wang WF, Wu SL, Wu HM, Chang JC, Huang CS, Cheng WL, Soong BW, Lee YC, Li JY, Kuo SJ, Chen M, Huang CN, Liu CS.

Clin Chim Acta. 2012 Dec 24;414:225-7. doi: 10.1016/j.cca.2012.09.019. Epub 2012 Sep 29.

PMID:
23031666
17.

Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery.

Chang JC, Liu KH, Li YC, Kou SJ, Wei YH, Chuang CS, Hsieh M, Liu CS.

Neurosignals. 2013;21(3-4):160-73. doi: 10.1159/000341981. Epub 2012 Sep 21.

PMID:
23006856
18.

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.

Monden Y, Mori M, Kuwajima M, Goto T, Yamagata T, Momoi MY.

Brain Dev. 2013 Jun;35(6):582-5. doi: 10.1016/j.braindev.2012.08.006. Epub 2012 Sep 13.

PMID:
22981260
19.

Mitochondrial diseases and epilepsy.

Bindoff LA, Engelsen BA.

Epilepsia. 2012 Sep;53 Suppl 4:92-7. doi: 10.1111/j.1528-1167.2012.03618.x. Review.

PMID:
22946726
20.

Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.

Sekino Y, Inamori M, Yamada E, Ohkubo H, Sakai E, Higurashi T, Iida H, Hosono K, Endo H, Nonaka T, Takahashi H, Koide T, Abe Y, Gotoh E, Koyano S, Kuroiwa Y, Maeda S, Nakajima A.

World J Gastroenterol. 2012 Sep 7;18(33):4557-62. doi: 10.3748/wjg.v18.i33.4557.

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