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Items: 1 to 50 of 471

1.

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele HE, Horvath R, Chinnery PF, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick SJ, Spino M, Blamire AM, Hogarth P, Vichinsky E.

Lancet Neurol. 2019 Jul;18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

PMID:
31202468
2.

Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, DeGoede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Jun 11. doi: 10.1002/ana.25525. [Epub ahead of print]

PMID:
31187502
3.

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.

Kölbel H, Hathazi D, Jennings M, Horvath R, Roos A, Schara U.

Front Neurol. 2019 May 7;10:470. doi: 10.3389/fneur.2019.00470. eCollection 2019.

4.

A practical review on the measurement tools for cellular adhesion force.

Ungai-Salánki R, Peter B, Gerecsei T, Orgovan N, Horvath R, Szabó B.

Adv Colloid Interface Sci. 2019 Jul;269:309-333. doi: 10.1016/j.cis.2019.05.005. Epub 2019 May 11. Review. Spanish.

PMID:
31128462
5.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
6.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen P, Bratkovic D, Carrozzo R, Donati MA, Nottia MD, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M.

Hum Mutat. 2019 May 2. doi: 10.1002/humu.23777. [Epub ahead of print]

PMID:
31045291
7.

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
8.

In vitro SOD-like activity of mono- and di-copper complexes with a phosphonate substituted SALAN-type ligand.

Székács I, Tokarz P, Horvath R, Kovács K, Kubas A, Shimura M, Brasun J, Murzin V, Caliebe W, Szewczuk Z, Paluch A, Wojnárovits L, Tóth T, Pap JS, Szyrwiel Ł.

Chem Biol Interact. 2019 Jun 1;306:78-88. doi: 10.1016/j.cbi.2019.04.003. Epub 2019 Apr 4.

PMID:
30954465
9.

Pervasive population genomic consequences of genome duplication in Arabidopsis arenosa.

Monnahan P, Kolář F, Baduel P, Sailer C, Koch J, Horvath R, Laenen B, Schmickl R, Paajanen P, Šrámková G, Bohutínská M, Arnold B, Weisman CM, Marhold K, Slotte T, Bomblies K, Yant L.

Nat Ecol Evol. 2019 Mar;3(3):457-468. doi: 10.1038/s41559-019-0807-4. Epub 2019 Feb 25.

PMID:
30804518
10.

[Postoperative outcome of surgical interventions for epilepsy between 2005 and 2016 at the Epilepsy Center of Pécs].

Lőrincz KN, Bóné B, Tóth M, Horváth R, Kovács N, Komoly S, Karádi K, Barsi P, Ábrahám H, Seress L, Horváth Z, Dóczi T, Janszky J, Gyimesi C.

Orv Hetil. 2019 Feb;160(7):270-278. doi: 10.1556/650.2019.31321. Hungarian.

PMID:
30741003
11.

An improved 96 well plate format lipid quantification assay for standardisation of experiments with extracellular vesicles.

Visnovitz T, Osteikoetxea X, Sódar BW, Mihály J, Lőrincz P, Vukman KV, Tóth EÁ, Koncz A, Székács I, Horváth R, Varga Z, Buzás EI.

J Extracell Vesicles. 2019 Jan 29;8(1):1565263. doi: 10.1080/20013078.2019.1565263. eCollection 2019.

12.

Prevalence and distribution of cartilage damage at the metacarpal head level in rheumatoid arthritis and osteoarthritis: an ultrasound study.

Hurnakova J, Filippucci E, Cipolletta E, Di Matteo A, Salaffi F, Carotti M, Draghessi A, Di Donato E, Di Carlo M, Lato V, Horvath R, Komarc M, Pavelka K, Grassi W.

Rheumatology (Oxford). 2019 Jan 25. doi: 10.1093/rheumatology/key443. [Epub ahead of print]

PMID:
30690561
13.

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, McCormack S, McCormick EM, McFarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S.

J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.

PMID:
30683676
14.

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.

Diebold I, Schön U, Horvath R, Schwartz O, Holinski-Feder E, Kölbel H, Abicht A.

Mol Cell Probes. 2019 Apr;44:14-20. doi: 10.1016/j.mcp.2019.01.003. Epub 2019 Jan 22.

PMID:
30682426
15.

Biomimetic Dextran-Based Hydrogel Layers for Cell Micropatterning over Large Areas Using the FluidFM BOT Technology.

Saftics A, Türk B, Sulyok A, Nagy N, Gerecsei T, Szekacs I, Kurunczi S, Horvath R.

Langmuir. 2019 Feb 12;35(6):2412-2421. doi: 10.1021/acs.langmuir.8b03249. Epub 2019 Feb 1.

PMID:
30653328
16.

Single-cell expression noise and gene-body methylation in Arabidopsis thaliana.

Horvath R, Laenen B, Takuno S, Slotte T.

Heredity (Edinb). 2019 Jan 16. doi: 10.1038/s41437-018-0181-z. [Epub ahead of print]

PMID:
30651589
17.

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Larrea D, Pera M, Gonnelli A, Quintana-Cabrera R, Akman HO, Guardia-Laguarta C, Velasco KR, Area-Gomez E, Dal Bello F, De Stefani D, Horvath R, Shy ME, Schon EA, Giacomello M.

Hum Mol Genet. 2019 Jun 1;28(11):1782-1800. doi: 10.1093/hmg/ddz008.

18.

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.

Cipriani S, Phan V, Médard JJ, Horvath R, Lochmüller H, Chrast R, Roos A, Spendiff S.

Int J Mol Sci. 2018 Dec 17;19(12). pii: E4072. doi: 10.3390/ijms19124072.

19.

Ictal piloerection is associated with high-grade glioma and autoimmune encephalitis-Results from a systematic review.

Tényi D, Bóné B, Horváth R, Komoly S, Illés Z, Beier CP, Kelemen A, Kovács N, Darnai G, Janszky J.

Seizure. 2019 Jan;64:1-5. doi: 10.1016/j.seizure.2018.11.009. Epub 2018 Nov 22.

PMID:
30497014
20.

Integrin targeting of glyphosate and its cell adhesion modulation effects on osteoblastic MC3T3-E1 cells revealed by label-free optical biosensing.

Szekacs I, Farkas E, Gemes BL, Takacs E, Szekacs A, Horvath R.

Sci Rep. 2018 Nov 27;8(1):17401. doi: 10.1038/s41598-018-36081-0.

21.

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.

Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmüller H, Straka T, Rudolf R, Weis J, Roos A.

Neurobiol Dis. 2019 Apr;124:218-229. doi: 10.1016/j.nbd.2018.11.019. Epub 2018 Nov 20.

PMID:
30468864
22.

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.

Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J.

Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21.

PMID:
30460542
23.

Bronchial Asthma and Bronchial Hyperresponsiveness and Their Characteristics in Patients with Common Variable Immunodeficiency.

Milota T, Bloomfield M, Parackova Z, Sediva A, Bartunkova J, Horvath R.

Int Arch Allergy Immunol. 2019;178(2):192-200. doi: 10.1159/000494128. Epub 2018 Nov 20.

PMID:
30458444
24.

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok-/- zebrafish.

Munro B, Horvath R, Müller JS.

Hum Mol Genet. 2018 Nov 14. doi: 10.1093/hmg/ddy389. [Epub ahead of print]

25.

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.

Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I.

Mol Genet Genomic Med. 2018 Nov;6(6):1188-1198. doi: 10.1002/mgg3.500. Epub 2018 Nov 8.

26.

Calein C, a Sesquiterpene Lactone Isolated From Calea Pinnatifida (Asteraceae), Inhibits Mitotic Progression and Induces Apoptosis in MCF-7 Cells.

Caldas LA, Horvath RO, Ferreira-Silva GÁ, Ferreira MJP, Ionta M, Sartorelli P.

Front Pharmacol. 2018 Oct 18;9:1191. doi: 10.3389/fphar.2018.01191. eCollection 2018.

27.

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Estephan EP, Zambon AA, Marchiori PE, da Silva AMS, Caldas VM, Moreno CAM, Reed UC, Horvath R, Töpf A, Lochmüller H, Zanoteli E.

Neuromuscul Disord. 2018 Nov;28(11):961-964. doi: 10.1016/j.nmd.2018.08.007. Epub 2018 Sep 5.

PMID:
30266223
28.

Serotonergic regulation of the buccal (feeding) rhythm of the pond snail, Lymnaea stagnalis. An immunocytochemical, biochemical and pharmacological approach.

Elekes K, Hiripi L, Balog G, Maász G, Battonyai I, Khabarova MY, Horváth R, Voronezhskaya EE.

Acta Biol Hung. 2018 Sep;69(3):225-243. doi: 10.1556/018.68.2018.3.1.

PMID:
30257576
29.
30.

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.

Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V.

Sci Rep. 2018 Aug 3;8(1):11682. doi: 10.1038/s41598-018-30143-z.

31.

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.

Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J.

Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14.

PMID:
30028002
32.

Interaction of Positively Charged Gold Nanoparticles with Cancer Cells Monitored by an in Situ Label-Free Optical Biosensor and Transmission Electron Microscopy.

Peter B, Lagzi I, Teraji S, Nakanishi H, Cervenak L, Zámbó D, Deák A, Molnár K, Truszka M, Szekacs I, Horvath R.

ACS Appl Mater Interfaces. 2018 Aug 15;10(32):26841-26850. doi: 10.1021/acsami.8b01546. Epub 2018 Jul 31.

PMID:
30022664
33.

Entheseal involvement in patients with systemic lupus erythematosus: an ultrasound study.

Di Matteo A, Filippucci E, Cipolletta E, Satulu I, Hurnakova J, Lato V, De Angelis R, Horvath R, Pavelka K, Salaffi F, Grassi W.

Rheumatology (Oxford). 2018 Oct 1;57(10):1822-1829. doi: 10.1093/rheumatology/key189.

PMID:
29982722
34.

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.

35.

Neuronal Development in the Larvae of the Invasive Biofouler Dreissena polymorpha (Mollusca: Bivalvia), with Special Attention to Sensory Elements and Swimming Behavior.

Battonyai I, Voronezhskaya EE, Obukhova A, Horváth R, Nezlin LP, Elekes K.

Biol Bull. 2018 Jun;234(3):192-206. doi: 10.1086/698511. Epub 2018 Jun 18.

PMID:
29949436
36.

First-line genomic diagnosis of mitochondrial disorders.

Raymond FL, Horvath R, Chinnery PF.

Nat Rev Genet. 2018 Jul;19(7):399-400. doi: 10.1038/s41576-018-0022-1. No abstract available.

PMID:
29789687
37.

High-Resolution Adhesion Kinetics of EGCG-Exposed Tumor Cells on Biomimetic Interfaces: Comparative Monitoring of Cell Viability Using Label-Free Biosensor and Classic End-Point Assays.

Peter B, Ungai-Salanki R, Szabó B, Nagy AG, Szekacs I, Bősze S, Horvath R.

ACS Omega. 2018 Apr 30;3(4):3882-3891. doi: 10.1021/acsomega.7b01902. Epub 2018 Apr 5.

38.

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Burns DT, Donkervoort S, Müller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bönnemann CG.

Am J Hum Genet. 2018 May 3;102(5):858-873. doi: 10.1016/j.ajhg.2018.03.011.

39.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

40.

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmüller H.

Neuromolecular Med. 2018 Jun;20(2):205-214. doi: 10.1007/s12017-018-8490-1. Epub 2018 Apr 25. Review.

PMID:
29696584
41.

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.

42.

PLP1 mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.

Keogh MJ, Jaiser SR, Steele HE, Horvath R, Chinnery PF, Baker MR.

Neurol Clin Pract. 2017 Oct;7(5):451-454. doi: 10.1212/CPJ.0000000000000346. No abstract available.

43.

Adsorption of Methylamine on Amorphous Ice under Interstellar Conditions. A Grand Canonical Monte Carlo Simulation Study.

Horváth RA, Hantal G, Picaud S, Szőri M, Jedlovszky P.

J Phys Chem A. 2018 Apr 5;122(13):3398-3412. doi: 10.1021/acs.jpca.8b01591. Epub 2018 Mar 23.

PMID:
29537265
44.

Dramatic Alteration of 3ILCT Lifetimes Using Ancillary Ligands in [Re(L)(CO)3(phen-TPA)] n+ Complexes: An Integrated Spectroscopic and Theoretical Study.

Shillito GE, Hall TBJ, Preston D, Traber P, Wu L, Reynolds KEA, Horvath R, Sun XZ, Lucas NT, Crowley JD, George MW, Kupfer S, Gordon KC.

J Am Chem Soc. 2018 Apr 4;140(13):4534-4542. doi: 10.1021/jacs.7b12868. Epub 2018 Mar 22.

PMID:
29537264
45.

Label-free optical biosensor for real-time monitoring the cytotoxicity of xenobiotics: A proof of principle study on glyphosate.

Farkas E, Szekacs A, Kovacs B, Olah M, Horvath R, Szekacs I.

J Hazard Mater. 2018 Jun 5;351:80-89. doi: 10.1016/j.jhazmat.2018.02.045. Epub 2018 Feb 23.

PMID:
29518655
46.

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;:.

47.

A contemporary 16-year review of Coxiella burnetii infective endocarditis in a tertiary cardiac center in Queensland, Australia.

Armstrong MR, McCarthy KL, Horvath RL.

Infect Dis (Lond). 2018 Jul;50(7):531-538. doi: 10.1080/23744235.2018.1445279. Epub 2018 Mar 8. Review.

PMID:
29516748
48.

Synthetic resveratrol-curcumin hybrid derivative inhibits mitosis progression in estrogen positive MCF-7 breast cancer cells.

de Freitas Silva M, Coelho LF, Guirelli IM, Pereira RM, Ferreira-Silva GÁ, Graravelli GY, Horvath RO, Caixeta ES, Ionta M, Viegas C.

Toxicol In Vitro. 2018 Aug;50:75-85. doi: 10.1016/j.tiv.2018.02.020. Epub 2018 Mar 2.

PMID:
29501629
49.

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G.

Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb.

50.

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

Juneja M, Azmi A, Baets J, Roos A, Jennings MJ, Saveri P, Pisciotta C, Bernard-Marissal N, Schneider BL, Verfaillie C, Chrast R, Seeman P, Hahn AF, de Jonghe P, Maudsley S, Horvath R, Pareyson D, Timmerman V.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):870-878. doi: 10.1136/jnnp-2017-317562. Epub 2018 Feb 15.

PMID:
29449460

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