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Items: 1 to 50 of 501

1.

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

Yaramis A, Lochmüller H, Töpf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Ipek Polat A, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y.

Neurol Genet. 2020 Jan 10;6(1):e392. doi: 10.1212/NXG.0000000000000392. eCollection 2020 Feb.

2.

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.

Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM.

Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.

3.

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.

Nilipour Y, Fatehi F, Sanatinia S, Bradshaw A, Duff J, Lochmüller H, Horvath R, Nafissi S.

J Neurol Sci. 2020 Jan 23;411:116707. doi: 10.1016/j.jns.2020.116707. [Epub ahead of print]

PMID:
32007756
4.

Association between clinical specialty setting and disease management in patients with psoriatic arthritis: results from LOOP, a cross-sectional, multi-country, observational study.

Boehncke WH, Horváth R, Dalkiliç E, Lima SAL, Okada M, Hojnik M, Ganz F, Lubrano E.

J Eur Acad Dermatol Venereol. 2020 Jan 30. doi: 10.1111/jdv.16251. [Epub ahead of print]

PMID:
32003056
5.

Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.

Forrester N, Rattihalli R, Horvath R, Maggi L, Manzur A, Fuller G, Gutowski N, Rankin J, Dick D, Christopher B, Greenslade M, Majumdar A.

J Neuromuscul Dis. 2020 Jan 24. doi: 10.3233/JND-200472. [Epub ahead of print]

PMID:
31985473
6.

Single-cell adhesion force kinetics of cell populations from combined label-free optical biosensor and robotic fluidic force microscopy.

Sztilkovics M, Gerecsei T, Peter B, Saftics A, Kurunczi S, Szekacs I, Szabo B, Horvath R.

Sci Rep. 2020 Jan 9;10(1):61. doi: 10.1038/s41598-019-56898-7.

7.

Vibrational Stark Spectroscopy of Fluorobenzene Using Quantum Cascade Laser Dual Frequency Combs.

Szczepaniak U, Schneider SH, Horvath R, Kozuch J, Geiser M.

Appl Spectrosc. 2019 Dec 23:3702819888503. doi: 10.1177/0003702819888503. [Epub ahead of print]

PMID:
31868520
8.

Oxidization increases the binding of EGCG to serum albumin revealed by kinetic data from label-free optical biosensor with reference channel.

Peter B, Saftics A, Kovacs B, Kurunczi S, Horvath R.

Analyst. 2020 Jan 20;145(2):588-595. doi: 10.1039/c9an01779h.

PMID:
31776529
9.

Publisher Correction: Spring constant and sensitivity calibration of FluidFM micropipette cantilevers for force spectroscopy measurements.

Nagy ÁG, Kámán J, Horváth R, Bonyár A.

Sci Rep. 2019 Nov 26;9(1):18009. doi: 10.1038/s41598-019-54634-9.

10.

Internet addiction and functional brain networks: task-related fMRI study.

Darnai G, Perlaki G, Zsidó AN, Inhóf O, Orsi G, Horváth R, Nagy SA, Lábadi B, Tényi D, Kovács N, Dóczi T, Demetrovics Z, Janszky J.

Sci Rep. 2019 Oct 31;9(1):15777. doi: 10.1038/s41598-019-52296-1.

11.

Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.

Debattisti V, Horn A, Singh R, Seifert EL, Hogarth MW, Mazala DA, Huang KT, Horvath R, Jaiswal JK, Hajnóczky G.

Cell Rep. 2019 Oct 29;29(5):1274-1286.e6. doi: 10.1016/j.celrep.2019.09.063.

12.

Severe neurodevelopmental disease caused by a homozygous TLK2 variant.

Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R.

Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x.

PMID:
31558842
13.

Impact of demography on linked selection in two outcrossing Brassicaceae species.

Mattila TM, Laenen B, Horvath R, Hämälä T, Savolainen O, Slotte T.

Ecol Evol. 2019 Aug 13;9(17):9532-9545. doi: 10.1002/ece3.5463. eCollection 2019 Sep.

14.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H.

Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16.

PMID:
31527857
15.

Orthotopic cardiac transplantation for Chagas cardiomyopathy in Australia.

Rausch K, Lau K, Ulett K, Chan W, Javorsky G, Wong YW, Thompson B, Pauli J, McKenzie S, Horvath R, Platts D.

Intern Med J. 2019 Sep;49(9):1194-1195. doi: 10.1111/imj.14421. No abstract available.

PMID:
31507051
16.

Correction to "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. 2019 Jun 17;4(6):10474. doi: 10.1021/acsomega.9b01597. eCollection 2019 Jun 30.

17.

The allelochemical tannic acid affects the locomotion and feeding behaviour of the pond snail, Lymnaea stagnalis, by inhibiting peripheral pathways.

Vehovszky Á, Horváth R, Farkas A, Győri J, Elekes K.

Invert Neurosci. 2019 Aug 22;19(3):10. doi: 10.1007/s10158-019-0229-7.

18.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Oláhová M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA.

Hum Mol Genet. 2019 Nov 15;28(22):3766-3776. doi: 10.1093/hmg/ddz202.

19.

Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.

O'Connor E, Cairns G, Spendiff S, Burns D, Hettwer S, Mäder A, Müller J, Horvath R, Slater C, Roos A, Lochmüller H.

Cells. 2019 Aug 7;8(8). pii: E848. doi: 10.3390/cells8080848.

20.

Adhesion force measurements on functionalized microbeads: An in-depth comparison of computer controlled micropipette and fluidic force microscopy.

Gerecsei T, Erdődi I, Peter B, Hős C, Kurunczi S, Derényi I, Szabó B, Horvath R.

J Colloid Interface Sci. 2019 Nov 1;555:245-253. doi: 10.1016/j.jcis.2019.07.102. Epub 2019 Jul 31.

PMID:
31386993
21.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
22.

Nuclear imaging in the diagnosis of infective endocarditis.

Lee JC, Wee YS, Horvath RL.

J Nucl Cardiol. 2019 Jul 18. doi: 10.1007/s12350-019-01819-4. [Epub ahead of print] No abstract available.

PMID:
31321617
23.

Generation of Microsecond Charge-Separated Excited States in Rhenium(I) Diimine Complexes: Driving Force Is the Dominant Factor in Controlling Lifetime.

Barnsley JE, Shillito GE, Larsen CB, van der Salm H, Horvath R, Sun XZ, Wu X, George MW, Lucas NT, Gordon KC.

Inorg Chem. 2019 Aug 5;58(15):9785-9795. doi: 10.1021/acs.inorgchem.9b00792. Epub 2019 Jul 17.

PMID:
31314505
24.

Spring constant and sensitivity calibration of FluidFM micropipette cantilevers for force spectroscopy measurements.

Nagy ÁG, Kámán J, Horváth R, Bonyár A.

Sci Rep. 2019 Jul 16;9(1):10287. doi: 10.1038/s41598-019-46691-x. Erratum in: Sci Rep. 2019 Nov 26;9(1):18009.

25.

Monitoring the Formation and Reactivity of Organometallic Alkane and Fluoroalkane Complexes with Silanes and Xe Using Time-Resolved X-ray Absorption Fine Structure Spectroscopy.

Bartlett SA, Besley NA, Dent AJ, Diaz-Moreno S, Evans J, Hamilton ML, Hanson-Heine MWD, Horvath R, Manici V, Sun XZ, Towrie M, Wu L, Zhang X, George MW.

J Am Chem Soc. 2019 Jul 24;141(29):11471-11480. doi: 10.1021/jacs.8b13848. Epub 2019 Jul 15.

PMID:
31306004
26.

Efficacy of pulsed-xenon ultraviolet light for disinfection of high-touch surfaces in an Ecuadorian hospital.

Villacís JE, Lopez M, Passey D, Santillán MH, Verdezoto G, Trujillo F, Paredes G, Alarcón C, Horvath R, Stibich M.

BMC Infect Dis. 2019 Jul 3;19(1):575. doi: 10.1186/s12879-019-4200-3.

27.

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Gatz C, Hathazi D, Münchberg U, Buchkremer S, Labisch T, Munro B, Horvath R, Töpf A, Weis J, Roos A.

Front Neurol. 2019 Jun 14;10:562. doi: 10.3389/fneur.2019.00562. eCollection 2019.

28.

[Evaluation of resection margins following breast conserving surgery for breast cancer. A multicentric retrospective study].

Fakan B, Baranyi E, Horváth R, Kálmán E, Kulka J, Tölgyesi K, Török M, Udvarhelyi N, Zombori T, Cserni G.

Orv Hetil. 2019 Jun;160(26):1036-1044. doi: 10.1556/650.2019.31449. Hungarian.

PMID:
31230468
29.

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Yiş U, Hiz S, Güneş S, Diniz G, Baydan F, Töpf A, Sonmezler E, Lochmüller H, Horvath R, Oktay Y.

J Neuromuscul Dis. 2019;6(3):377-384. doi: 10.3233/JND-190383.

30.

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.

31.

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
32.

Pathogenic variants in MT-ATP6: A United Kingdom-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, de Goede 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 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

33.

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.

34.

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
35.

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
36.

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 PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, 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 Oct;40(10):1731-1748. doi: 10.1002/humu.23777. Epub 2019 Jun 18.

PMID:
31045291
37.

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 Sep;21(9):2163-2164. doi: 10.1038/s41436-019-0506-1.

PMID:
31028354
38.

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
39.

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
40.

[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
41.

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.

42.

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 Jul 1;58(7):1206-1213. doi: 10.1093/rheumatology/key443.

43.

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
44.

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
45.

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
46.

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

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

Heredity (Edinb). 2019 Aug;123(2):81-91. doi: 10.1038/s41437-018-0181-z. Epub 2019 Jan 16.

47.

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.

48.

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.

49.

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.

50.

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.

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