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Items: 27

1.

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.

McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmüller H.

Hum Mol Genet. 2019 Jul 15;28(14):2339-2351. doi: 10.1093/hmg/ddz059.

2.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2019 Apr 26. doi: 10.1038/s41436-019-0506-1. [Epub ahead of print]

PMID:
31028354
3.

Mitochondrial DNA transcription and translation: clinical syndromes.

Boczonadi V, Ricci G, Horvath R.

Essays Biochem. 2018 Jul 20;62(3):321-340. doi: 10.1042/EBC20170103. Print 2018 Jul 20. Review.

4.

Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.

Hum Mol Genet. 2018 Jun 15;27(12):2187-2204. doi: 10.1093/hmg/ddy127.

5.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Oct;20(10):1224-1235. doi: 10.1038/gim.2017.251. Epub 2018 Mar 8. Erratum in: Genet Med. 2019 Apr 26;:.

6.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

7.

The role of tRNA synthetases in neurological and neuromuscular disorders.

Boczonadi V, Jennings MJ, Horvath R.

FEBS Lett. 2018 Mar;592(5):703-717. doi: 10.1002/1873-3468.12962. Epub 2018 Feb 1. Review.

8.

Genetic heterogeneity of motor neuropathies.

Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R.

Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.

9.

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

Bartsakoulia M, Mϋller JS, Gomez-Duran A, Yu-Wai-Man P, Boczonadi V, Horvath R.

J Neuromuscul Dis. 2016 Aug 30;3(3):363-379. Erratum in: J Neuromuscul Dis. 2017;4(1):97.

PMID:
27854233
10.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

11.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Giunta M, Edvardson S, Xu Y, Schuelke M, Gomez-Duran A, Boczonadi V, Elpeleg O, Müller JS, Horvath R.

Hum Mol Genet. 2016 Jul 15;25(14):2985-2996. Epub 2016 May 18.

12.

Mitochondrial dysfunction in liver failure requiring transplantation.

Lane M, Boczonadi V, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P, Horvath R.

J Inherit Metab Dis. 2016 May;39(3):427-436. doi: 10.1007/s10545-016-9927-z. Epub 2016 Apr 6.

13.

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing.

Boczonadi V, Horvath R.

EMBO Mol Med. 2016 Mar 1;8(3):173-5. doi: 10.15252/emmm.201506050. No abstract available.

14.

Functional Analysis of Periplakin and Envoplakin, Cytoskeletal Linkers, and Cornified Envelope Precursor Proteins.

Boczonadi V, Määttä A.

Methods Enzymol. 2016;569:309-29. doi: 10.1016/bs.mie.2015.06.019. Epub 2015 Jul 6. Review.

PMID:
26778565
15.

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.

Boczonadi V, Giunta M, Lane M, Tulinius M, Schara U, Horvath R.

Int J Biochem Cell Biol. 2015 Jun;63:32-40. doi: 10.1016/j.biocel.2015.01.025. Epub 2015 Feb 7.

PMID:
25666558
16.

Reversible infantile mitochondrial diseases.

Boczonadi V, Bansagi B, Horvath R.

J Inherit Metab Dis. 2015 May;38(3):427-35. doi: 10.1007/s10545-014-9784-6. Epub 2014 Nov 19. Review.

PMID:
25407320
17.

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.

Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S.

Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007. Erratum in: Am J Hum Genet. 2014 Oct 2;95(4):472. Gonzales, Michael [corrected to Gonzalez, Michael].

18.

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.

Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R.

J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3.

19.

Scrib:Rac1 interactions are required for the morphogenesis of the ventricular myocardium.

Boczonadi V, Gillespie R, Keenan I, Ramsbottom SA, Donald-Wilson C, Al Nazer M, Humbert P, Schwarz RJ, Chaudhry B, Henderson DJ.

Cardiovasc Res. 2014 Oct 1;104(1):103-15. doi: 10.1093/cvr/cvu193. Epub 2014 Aug 18.

20.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R.

Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287.

21.

Mitochondria: impaired mitochondrial translation in human disease.

Boczonadi V, Horvath R.

Int J Biochem Cell Biol. 2014 Mar;48:77-84. doi: 10.1016/j.biocel.2013.12.011. Epub 2014 Jan 8. Review.

22.

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmüller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.

J Neuromuscul Dis. 2014;1(1):55-63. doi: 10.3233/JND-140003.

23.

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.

Boczonadi V, Smith PM, Pyle A, Gomez-Duran A, Schara U, Tulinius M, Chinnery PF, Horvath R.

Hum Mol Genet. 2013 Nov 15;22(22):4602-15. doi: 10.1093/hmg/ddt309. Epub 2013 Jun 28.

24.

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.

Neeve VC, Pyle A, Boczonadi V, Gomez-Duran A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R.

Mitochondrion. 2013 Nov;13(6):743-8. doi: 10.1016/j.mito.2013.03.002. Epub 2013 Mar 14.

25.

Annexin A9 is a periplakin interacting partner in membrane-targeted cytoskeletal linker protein complexes.

Boczonadi V, Määttä A.

FEBS Lett. 2012 Sep 21;586(19):3090-6. doi: 10.1016/j.febslet.2012.07.057. Epub 2012 Jul 24.

26.

Cytolinker cross-talk: periplakin N-terminus interacts with plectin to regulate keratin organisation and epithelial migration.

Boczonadi V, McInroy L, Määttä A.

Exp Cell Res. 2007 Oct 1;313(16):3579-91. Epub 2007 Jul 14.

PMID:
17662978
27.

Periplakin-dependent re-organisation of keratin cytoskeleton and loss of collective migration in keratin-8-downregulated epithelial sheets.

Long HA, Boczonadi V, McInroy L, Goldberg M, Määttä A.

J Cell Sci. 2006 Dec 15;119(Pt 24):5147-59.

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