Publikationsverzeichnis

Prof. Dr. Rita Horváth

1.

Diebold I, Schon U, Horvath R, et al. HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing. Mol Cell Probes. 2019;44:14-20. doi:10.1016/j.mcp.2019.01.003

2.

Vill K, Muller-Felber W, Glaser D, et al. SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum Genet. 2018;137(11-12):911-919. doi:10.1007/s00439-018-1952-6

3.

Abicht A, Scharf F, Kleinle S, et al. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. Mol Genet Genomic Med. 2018;6(6):1188-1198. doi:10.1002/mgg3.500

4.

Boczonadi V, King MS, Smith AC, et al. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease. Genet Med. 2018;20(10):1224-1235. doi:10.1038/gim.2017.251

5.

Boczonadi V, Ricci G, Horvath R. Mitochondrial DNA transcription and translation: clinical syndromes. Essays Biochem. 2018;62(3):321-340. doi:10.1042/EBC20170103

6.

Raymond FL, Horvath R, Chinnery PF. First-line genomic diagnosis of mitochondrial disorders. Nat Rev Genet. 2018;19(7):399-400. doi:10.1038/s41576-018-0022-1

7.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, et al. Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. Hum Mol Genet. 2018;27(12):2187-2204. doi:10.1093/hmg/ddy127

8.

Burns DT, Donkervoort S, Muller JS, et al. Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. Am J Hum Genet. 2018;102(5):858-873. doi:10.1016/j.ajhg.2018.03.011

9.

Bartsakoulia M, Pyle A, Troncoso-Chandia D, et al. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Hum Mol Genet. 2018;27(7):1186-1195. doi:10.1093/hmg/ddy033

Publikationsverzeichnis

Prof. Dr. Rita Horváth

10.

Witters P, Saada A, Honzik T, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018;20(4):444-451. doi:10.1038/gim.2017.125

11.

Roos A, Thompson R, Horvath R, Lochmuller H, Sickmann A. Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases. Proteomics Clin Appl. 2018;12(2). doi:10.1002/prca.201700073

12.

Boczonadi V, Jennings MJ, Horvath R. The role of tRNA synthetases in neurological and neuromuscular disorders. FEBS Lett. 2018;592(5):703-717. doi:10.1002/1873-3468.12962

13.

Minnerop M, Kurzwelly D, Rattay TW, et al. Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018;141(1):e2. doi:10.1093/brain/awx291

14.

Kullar PJ, Gomez-Duran A, Gammage PA, et al. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family. Brain. 2018;141(1):55-62. doi:10.1093/brain/awx295

15.

O’Byrne JJ, Tarailo-Graovac M, Ghani A, et al. The genotypic and phenotypic spectrum of MTO1 deficiency. Mol Genet Metab. 2018;123(1):28-42. doi:10.1016/j.ymgme.2017.11.003

16.

Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19(12). doi:10.1038/gim.2017.107

17.

Manole A, Jaunmuktane Z, Hargreaves I, et al. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain. 2017;140(11):2820-2837. doi:10.1093/brain/awx231

18.

Fledrich R, Mannil M, Leha A, et al. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatry. 2017;88(11):941-952. doi:10.1136/jnnp-2017-315721

19.

Steele HE, Horvath R, Lyon JJ, Chinnery PF. Monitoring clinical progression with mitochondrial disease biomarkers. Brain. 2017;140(10):2530-2540. doi:10.1093/brain/awx168

Publikationsverzeichnis

Prof. Dr. Rita Horváth

20.

Panosyan FB, Laura M, Rossor AM, et al. Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017;89(9):927-935. doi:10.1212/WNL.0000000000004296

21.

Minnerop M, Kurzwelly D, Wagner H, et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017;140(6):1561-1578. doi:10.1093/brain/awx095

22.

Schrank B, Schoser B, Klopstock T, et al. Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency. Neuromuscul Disord. 2017;27(5):473-476. doi:10.1016/j.nmd.2017.02.005

23.

Bansagi B, Griffin H, Whittaker RG, et al. Genetic heterogeneity of motor neuropathies. Neurology. 2017;88(13):1226-1234. doi:10.1212/WNL.0000000000003772

24.

Maus M, Cuk M, Patel B, et al. Store-Operated Ca(2+) Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism. Cell Metab. 2017;25(3):698-712. doi:10.1016/j.cmet.2016.12.021

25.

Sleven H, Welsh SJ, Yu J, et al. De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. Am J Hum Genet. 2017;100(1):138-150. doi:10.1016/j.ajhg.2016.11.020

26.

Horvath R, Chinnery PF. The Effect of Neurological Genomics and Personalized Mitochondrial Medicine. JAMA Neurol. 2017;74(1):11-13. doi:10.1001/jamaneurol.2016.4506

27.

Shields MC, Bowers MR, Fulcer MM, et al. Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome. PLoS One. 2017;12(9):e0184817. doi:10.1371/journal.pone.0184817

28.

Steele HE, Horvath R, Taylor RW. The swinging pendulum of biomarkers in mitochondrial disease: The role of FGF21. Neurology. 2016;87(22):2286-2287. doi:10.1212/WNL.0000000000003383

Publikationsverzeichnis

Prof. Dr. Rita Horváth

29.

Haack TB, Ignatius E, Calvo-Garrido J, et al. Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. Am J Hum Genet. 2016;99(3):735-743. doi:10.1016/j.ajhg.2016.06.026

30.

Bartsakoulia M, Mupsilonller JS, Gomez-Duran A, Yu-Wai-Man P, Boczonadi V, Horvath R. Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies. J Neuromuscul Dis. 2016;3(3):363-379. doi:10.3233/JND-160178

31.

Zurita Rendon O, Antonicka H, Horvath R, Shoubridge EA. A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. Mol Cell Biol. 2016;36(16):2132-2140. doi:10.1128/MCB.00066-16

32.

Claeys KG, Abicht A, Hausler M, et al. Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP). Muscle Nerve. 2016;54(2):328-333. doi:10.1002/mus.25125

33.

Giunta M, Edvardson S, Xu Y, et al. Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Hum Mol Genet. 2016;25(14):2985-2996. doi:10.1093/hmg/ddw149

34.

Olsen RKJ, Konarikova E, Giancaspero TA, et al. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Am J Hum Genet. 2016;98(6):1130-1145. doi:10.1016/j.ajhg.2016.04.006

35.

Nightingale H, Pfeffer G, Bargiela D, Horvath R, Chinnery PF. Emerging therapies for mitochondrial disorders. Brain. 2016;139(Pt 6):1633-1648. doi:10.1093/brain/aww081

36.

Kullar PJ, Quail J, Lindsey P, et al. Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction. Brain. 2016;139(Pt 6):e33. doi:10.1093/brain/aww051

37.

Lane M, Boczonadi V, Bachtari S, et al. Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis. 2016;39(3):427-436. doi:10.1007/s10545-016-9927-z

Publikationsverzeichnis

Prof. Dr. Rita Horváth

38.

Wilson IJ, Carling PJ, Alston CL, et al. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Hum Mol Genet. 2016;25(5):1031-1041. doi:10.1093/hmg/ddv626

39.

Boczonadi V, Horvath R. Amyloid-beta in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing. EMBO Mol Med. 2016;8(3):173-175. doi:10.15252/emmm.201506050

40.

Whittaker RG, Herrmann DN, Bansagi B, et al. Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome. Neurology. 2015;85(22):1964-1971. doi:10.1212/WNL.0000000000002185

41.

Whittaker RG, Devine HE, Gorman GS, et al. Epilepsy in adults with mitochondrial disease: A cohort study. Ann Neurol. 2015;78(6):949-957. doi:10.1002/ana.24525

42.

Horvath R, Lewis-Smith D, Douroudis K, et al. SCP2 mutations and neurodegeneration with brain iron accumulation. Neurology. 2015;85(21):1909-1911. doi:10.1212/WNL.0000000000002157

43.

Bansagi B, Griffin H, Ramesh V, et al. The p.Ser107Leu in BICD2 is a mutation “hot spot” causing distal spinal muscular atrophy. Brain. 2015;138(Pt 11):e391. doi:10.1093/brain/awv159

44.

Bargiela D, Yu-Wai-Man P, Keogh M, Horvath R, Chinnery PF. Prevalence of neurogenetic disorders in the North of England. Neurology. 2015;85(14):1195-1201. doi:10.1212/WNL.0000000000001995

45.

Pyle A, Griffin H, Keogh MJ, Horvath R, Chinnery PF. Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. Brain. 2015;138(Pt 10):e384. doi:10.1093/brain/awv088

46.

Kohler C, Heyer C, Hoffjan S, et al. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. Mol Cell Probes. 2015;29(5):319-322. doi:10.1016/j.mcp.2015.06.005

47.

Remenyi V, Inczedy-Farkas G, Komlosi K, et al. Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases. Mitochondrial DNA. 2015;26(4):572-578. doi:10.3109/19401736.2013.878901

Publikationsverzeichnis

Prof. Dr. Rita Horváth

48.

Bansagi B, Antoniadi T, Burton-Jones S, et al. Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. J Neurol. 2015;262(8):1899-1908. doi:10.1007/s00415-015-7778-4

49.

Daud D, Griffin H, Douroudis K, et al. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. J Neurol. 2015;262(7):1673-1677. doi:10.1007/s00415-015-7755-y

50.

Horvath R, Chinnery PF. Nuclear-mitochondrial proteins: too much to process? Brain. 2015;138(Pt 6):1451-1453. doi:10.1093/brain/awv072

51.

Evangelista T, Bansagi B, Pyle A, et al. Phenotypic variability of TRPV4 related neuropathies. Neuromuscul Disord. 2015;25(6):516-521. doi:10.1016/j.nmd.2015.03.007

52.

Boczonadi V, Giunta M, Lane M, Tulinius M, Schara U, Horvath R. Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. Int J Biochem Cell Biol. 2015;63:32-40. doi:10.1016/j.biocel.2015.01.025

53.

Payne BAI, Gardner K, Blakely EL, et al. Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment. JAMA Neurol. 2015;72(5):603-605. doi:10.1001/jamaneurol.2015.0150

54.

Gorman GS, Schaefer AM, Ng Y, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77(5):753-759. doi:10.1002/ana.24362

55.

Boczonadi V, Bansagi B, Horvath R. Reversible infantile mitochondrial diseases. J Inherit Metab Dis. 2015;38(3):427-435. doi:10.1007/s10545-014-9784-6

56.

Keogh MJ, Pyle A, Daud D, et al. Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. Neurology. 2015;84(17):1818-1820. doi:10.1212/WNL.0000000000001517

Publikationsverzeichnis

Prof. Dr. Rita Horváth

57.

Pfeffer G, Pyle A, Griffin H, et al. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015;84(11):1174-1176. doi:10.1212/WNL.0000000000001369

58.

Horvath R, Chinnery PF. Modifying mitochondrial tRNAs: delivering what the cell needs. Cell Metab. 2015;21(3):351-352. doi:10.1016/j.cmet.2015.02.012

59.

Gardner K, Payne BAI, Horvath R, Chinnery PF. Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA. Eur J Hum Genet. 2015;23(3):413-415. doi:10.1038/ejhg.2014.96

60.

Pyle A, Smertenko T, Bargiela D, et al. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain. 2015;138(Pt 2):276-283. doi:10.1093/brain/awu348

61.

Gorman GS, Pfeffer G, Griffin H, et al. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol. 2015;72(1):106-111. doi:10.1001/jamaneurol.2014.1753

62.

Braczynski AK, Vlaho S, Muller K, et al. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. Biomed Res Int. 2015;2015:462592. doi:10.1155/2015/462592

63.

Griffin HR, Pyle A, Blakely EL, et al. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genet Med. 2014;16(12):962-971. doi:10.1038/gim.2014.66

64.

Chaouch A, Brennan KM, Hudson J, et al. Two recurrent mutations are associated with GNE myopathy in the North of Britain. J Neurol Neurosurg Psychiatry. 2014;85(12):1359-1365. doi:10.1136/jnnp-2013-306314

65.

Cottenie E, Kochanski A, Jordanova A, et al. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet. 2014;95(5):590-601. doi:10.1016/j.ajhg.2014.10.002

Publikationsverzeichnis

Prof. Dr. Rita Horváth

66.

Balreira A, Boczonadi V, Barca E, et al. ANO10 mutations cause ataxia and coenzyme Q(1)(0) deficiency. J Neurol. 2014;261(11):2192-2198. doi:10.1007/s00415-014-7476-7

67.

Ivanov IS, Azmanov DN, Ivanova MB, et al. Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. Mol Genet Metab. 2014;113(1-2):76-83. doi:10.1016/j.ymgme.2014.07.017

68.

Herrmann DN, Horvath R, Sowden JE, et al. Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014;95(3):332-339. doi:10.1016/j.ajhg.2014.08.007

69.

Boczonadi V, Muller JS, Pyle A, et al. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014;5:4287. doi:10.1038/ncomms5287

70.

Taylor RW, Pyle A, Griffin H, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312(1):68-77. doi:10.1001/jama.2014.7184

71.

Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF. Abnormal retinal thickening is a common feature among patients with. Br J Ophthalmol. 2014;98(5):711-713. doi:10.1136/bjophthalmol-2013-304534

72.

Sitarz KS, Elliott HR, Karaman BS, Relton C, Chinnery PF, Horvath R. Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts. Mol Genet Metab. 2014;112(1):57-63. doi:10.1016/j.ymgme.2014.03.006

73.

Pfeffer G, Gorman GS, Griffin H, et al. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain. 2014;137(Pt 5):1323-1336. doi:10.1093/brain/awu060

Publikationsverzeichnis

Prof. Dr. Rita Horváth

74.

Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain. 2014;137(Pt 4):e271. doi:10.1093/brain/awt306

75.

Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry. 2014;85(3):331-338. doi:10.1136/jnnp-2012-304728

76.

Boczonadi V, Horvath R. Mitochondria: impaired mitochondrial translation in human disease. Int J Biochem Cell Biol. 2014;48:77-84. doi:10.1016/j.biocel.2013.12.011

77.

Nightingale H, Pfeffer G, Horvath R. Chronic and slowly progressive weakness of the legs and hands. BMJ. 2014;348:g459. doi:10.1136/bmj.g459

78.

Foley AR, Menezes MP, Pandraud A, et al. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain. 2014;137(Pt 1):44-56. doi:10.1093/brain/awt315

79.

Alston CL, Schaefer AM, Raman P, et al. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Neurology. 2013;81(23):2051-2053. doi:10.1212/01.wnl.0000436931.94291.e6

80.

Spendiff S, Reza M, Murphy JL, et al. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies. Hum Mol Genet. 2013;22(23):4739-4747. doi:10.1093/hmg/ddt327

81.

Spyropoulos A, Manford M, Horvath R, et al. Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy. JAMA Neurol. 2013;70(12):1552-1555. doi:10.1001/jamaneurol.2013.4111

82.

Pyle A, Griffin H, Duff J, et al. Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization. J Neurogenet. 2013;27(4):176-182. doi:10.3109/01677063.2013.831094

Publikationsverzeichnis

Prof. Dr. Rita Horváth

83.

Gavrilova R, Horvath R. Fibroblast growth factor 21, a biomarker for mitochondrial muscle disease. Neurology. 2013;81(21):1808-1809. doi:10.1212/01.wnl.0000436076.06159.2c

84.

Boczonadi V, Smith PM, Pyle A, et al. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Hum Mol Genet. 2013;22(22):4602-4615. doi:10.1093/hmg/ddt309

85.

Weckhuysen S, Ivanovic V, Hendrickx R, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81(19):1697-1703. doi:10.1212/01.wnl.0000435296.72400.a1

86.

Neeve VCM, Pyle A, Boczonadi V, et al. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion. 2013;13(6):743-748. doi:10.1016/j.mito.2013.03.002

87.

Pfeffer G, Horvath R, Klopstock T, et al. New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol. 2013;9(8):474-481. doi:10.1038/nrneurol.2013.129

88.

Horvath R. Brain iron takes off: a new propeller protein links neurodegeneration with autophagy. Brain. 2013;136(Pt 6):1687-1691. doi:10.1093/brain/awt098

89.

Guthrie G, Pfeffer G, Bailie M, et al. The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia. J Neurol. 2013;260(3):906-909. doi:10.1007/s00415-012-6780-3

90.

Talim B, Pyle A, Griffin H, et al. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Brain. 2013;136(Pt 2):e228. doi:10.1093/brain/aws197

91.

Bathgate D, Wigley R, Gorman G, Horvath R, Chinnery PF. Childhood presentation of “adult” polyglucosan body disease: normal GBE1 sequence with no glycogen branching enzyme activity. Ann Neurol. 2013;73(2):317-318. doi:10.1002/ana.23854

Publikationsverzeichnis

Prof. Dr. Rita Horváth

92.

Payne BAI, Wilson IJ, Yu-Wai-Man P, et al. Universal heteroplasmy of human mitochondrial DNA. Hum Mol Genet. 2013;22(2):384-390. doi:10.1093/hmg/dds435

93.

Neeve VCM, Samuels DC, Bindoff LA, et al. What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr? Brain. 2012;135(Pt 12):3614-3626. doi:10.1093/brain/aws298

94.

Pitceathly RDS, Smith C, Fratter C, et al. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012;135(Pt 11):3392-3403. doi:10.1093/brain/aws231

95.

Garcia-Diaz B, Barros MH, Sanna-Cherchi S, et al. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. Am J Hum Genet. 2012;91(4):729-736. doi:10.1016/j.ajhg.2012.08.019

96.

Sitarz KS, Almind GJ, Horvath R, et al. OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy. Neurology. 2012;79(14):1515-1517. doi:10.1212/WNL.0b013e31826d5f60

97.

Pyle A, Griffin H, Yu-Wai-Man P, et al. Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. Arch Neurol. 2012;69(10):1351-1354. doi:10.1001/archneurol.2012.1472

98.

Pfeffer G, Blakely EL, Alston CL, et al. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. J Neurol Neurosurg Psychiatry. 2012;83(9):883-886. doi:10.1136/jnnp-2012-302568

99.

Bulst S, Holinski-Feder E, Payne B, et al. In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion. Mol Genet Metab. 2012;107(1-2):95-103. doi:10.1016/j.ymgme.2012.04.022

100.

Sitarz KS, Yu-Wai-Man P, Pyle A, et al. MFN2 mutations cause compensatory mitochondrial DNA proliferation. Brain. 2012;135(Pt 8):e219, 1-3; author reply e220, 1-3. doi:10.1093/brain/aws049

101.

Horvath R. Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10). J Inherit Metab Dis. 2012;35(4):679-687. doi:10.1007/s10545-011-9434-1

Publikationsverzeichnis

Prof. Dr. Rita Horváth

102.

Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain. 2012;135(Pt 6):1695-1713. doi:10.1093/brain/aws102

103.

Horvath R, Holinski-Feder E, Neeve VCM, et al. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord. 2012;27(6):789-793. doi:10.1002/mds.24980

104.

Foley C, Schofield I, Eglon G, Bailey G, Chinnery PF, Horvath R. Charcot-Marie-Tooth disease in Northern England. J Neurol Neurosurg Psychiatry. 2012;83(5):572-573. doi:10.1136/jnnp-2011-300285

105.

Sitarz KS, Yu-Wai-Man P, Hudson G, et al. Genetic variations within the OPA1 gene are not associated with neuromyelitis optica. Mult Scler. 2012;18(2):240-243. doi:10.1177/1352458511416838

106.

Horvath R, Czermin B, Gulati S, et al. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psychiatry. 2012;83(2):174-178. doi:10.1136/jnnp-2011-301258

107.

Haack TB, Madignier F, Herzer M, et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J Med Genet. 2012;49(2):83-89. doi:10.1136/jmedgenet-2011-100577

108.

Sasarman F, Antonicka H, Horvath R, Shoubridge EA. The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation. Hum Mol Genet. 2011;20(23):4634-4643. doi:10.1093/hmg/ddr397

109.

Reilich P, Horvath R, Krause S, et al. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol. 2011;258(11):1987-1997. doi:10.1007/s00415-011-6055-4

110.

Mayr JA, Zimmermann FA, Horvath R, et al. Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children. Neuromuscul Disord. 2011;21(11):803-808. doi:10.1016/j.nmd.2011.06.005

111.

Hudson G, Yu-Wai-Man P, Griffiths PG, et al. Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON. Mitochondrion. 2011;11(4):620-622. doi:10.1016/j.mito.2011.03.004

Publikationsverzeichnis

Prof. Dr. Rita Horváth

112.

Baskin E, Selda Bayrakci U, Alehan F, et al. Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation. Pediatr Nephrol. 2011;26(7):1157-1161. doi:10.1007/s00467-011-1814-0

113.

Payne BAI, Wilson IJ, Hateley CA, et al. Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations. Nat Genet. 2011;43(8):806-810. doi:10.1038/ng.863

114.

Dick D, Horvath R, Chinnery PF. AMACR mutations cause late-onset autosomal recessive cerebellar ataxia. Neurology. 2011;76(20):1768-1770. doi:10.1212/WNL.0b013e31821a4484

115.

Stewart JD, Schoeler S, Sitarz KS, et al. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. Biochim Biophys Acta. 2011;1812(3):321-325. doi:10.1016/j.bbadis.2010.11.012

116.

Schara U, von Kleist-Retzow J-C, Lainka E, et al. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. J Inherit Metab Dis. 2011;34(1):197-201. doi:10.1007/s10545-010-9250-z

117.

Wang W, Shen P, Thiyagarajan S, et al. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Res. 2011;39(1):44-58. doi:10.1093/nar/gkq750

118.

Kemp JP, Smith PM, Pyle A, et al. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain. 2011;134(Pt 1):183-195. doi:10.1093/brain/awq320

119.

Baruffini E, Horvath R, Dallabona C, et al. Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion. 2011;11(1):182-190. doi:10.1016/j.mito.2010.09.007

120.

Stewart JD, Horvath R, Baruffini E, et al. Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology. 2010;52(5):1791-1796. doi:10.1002/hep.23891

121.

Seeger J, Schrank B, Pyle A, et al. Clinical and neuropathological findings in patients with TACO1 mutations. Neuromuscul Disord. 2010;20(11):720-724. doi:10.1016/j.nmd.2010.06.017

Publikationsverzeichnis

Prof. Dr. Rita Horváth

122.

Hassani A, Horvath R, Chinnery PF. Mitochondrial myopathies: developments in treatment. Curr Opin Neurol. 2010;23(5):459-465. doi:10.1097/WCO.0b013e32833d1096

123.

Walter MC, Czermin B, Muller-Ziermann S, et al. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol. 2010;257(9):1517-1523. doi:10.1007/s00415-010-5565-9

124.

Yu-Wai-Man P, Sitarz KS, Samuels DC, et al. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Hum Mol Genet. 2010;19(15):3043-3052. doi:10.1093/hmg/ddq209

125.

Yu-Wai-Man P, Griffiths PG, Burke A, et al. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology. 2010;117(8):1538-1546, 1546.e1. doi:10.1016/j.ophtha.2009.12.038

126.

Tuppen HAL, Fehmi J, Czermin B, et al. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab. 2010;100(4):345-348. doi:10.1016/j.ymgme.2010.04.010

127.

Michot C, Hubert L, Brivet M, et al. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat. 2010;31(7):E1564-1573. doi:10.1002/humu.21282

128.

Alston CL, Bender A, Hargreaves IP, et al. The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype. Neuromuscul Disord. 2010;20(6):403-406. doi:10.1016/j.nmd.2010.04.003

129.

Alston CL, Morak M, Reid C, et al. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscul Disord. 2010;20(2):131-135. doi:10.1016/j.nmd.2009.10.010

130.

Horvath R, Kemp JP, Tuppen HAL, et al. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain. 2009;132(Pt 11):3165-3174. doi:10.1093/brain/awp221

Publikationsverzeichnis

Prof. Dr. Rita Horváth

131.

Weraarpachai W, Antonicka H, Sasarman F, et al. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet. 2009;41(7):833-837. doi:10.1038/ng.390

132.

Ghezzi D, Goffrini P, Uziel G, et al. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in. Nat Genet. 2009;41(6):654-656. doi:10.1038/ng.378

133.

Bulst S, Abicht A, Holinski-Feder E, et al. In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes. Hum Mol Genet. 2009;18(9):1590-1599. doi:10.1093/hmg/ddp074

134.

Horvath R, Bender A, Abicht A, et al. Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing. J Neurol. 2009;256(5):810-815. doi:10.1007/s00415-009-5023-8

135.

Hosszufalusi N, Karcagi V, Horvath R, et al. A detailed investigation of maternally inherited diabetes and deafness (MIDD) including clinical characteristics, C-peptide secretion, HLA-DR and -DQ status and autoantibody pattern. Diabetes Metab Res Rev. 2009;25(2):127-135. doi:10.1002/dmrr.841

136.

Nagy A, Szever Z, Kormos Z, et al. [Convulsions in neonatal period and infancy with rare etiology (neurogenetic disease)]. Ideggyogy Sz. 2008;61(11-12):417-422.

137.

Horvath R, Gorman G, Chinnery PF. How can we treat mitochondrial encephalomyopathies? Approaches to therapy. Neurotherapeutics. 2008;5(4):558-568. doi:10.1016/j.nurt.2008.07.002

138.

Dimmock DP, Dunn JK, Feigenbaum A, et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008;14(10):1480-1485. doi:10.1002/lt.21556

139.

Horvath R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T. The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA. Neuromuscul Disord. 2008;18(7):553-556. doi:10.1016/j.nmd.2008.05.002

Publikationsverzeichnis

Prof. Dr. Rita Horváth

140.

Lehnhardt F-G, Horvath R, Ullrich R, et al. Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions. Arch Neurol. 2008;65(3):407-411. doi:10.1001/archneur.65.3.407

141.

Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF. X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. Mol Vis. 2007;13:2339-2343.

142.

Muller-Felber W, Horvath R, Gempel K, et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord. 2007;17(9-10):698-706. doi:10.1016/j.nmd.2007.06.002

143.

Hudson G, Carelli V, Spruijt L, et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet. 2007;81(2):228-233. doi:10.1086/519394

144.

Gempel K, Topaloglu H, Talim B, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007;130(Pt 8):2037-2044. doi:10.1093/brain/awm054

145.

Mayr JA, Merkel O, Kohlwein SD, et al. Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007;80(3):478-484. doi:10.1086/511788

146.

Horvath R, Kley RA, Lochmuller H, Vorgerd M. Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. Neurology. 2007;68(1):56-58. doi:10.1212/01.wnl.0000250334.48038.7a

147.

Leary SC, Cobine PA, Kaufman BA, et al. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metab. 2007;5(1):9-20. doi:10.1016/j.cmet.2006.12.001

Publikationsverzeichnis

Prof. Dr. Rita Horváth

148.

Barisic N, Horvath R, Grkovic L, Mihelcic D, Luetic T. Progressive chronic inflammatory demyelinating polyneuropathy in a child with central nervous system involvement and myopathy. Coll Antropol. 2006;30(4):945-949.

149.

Wallefeld W, Krause S, Nowak KJ, et al. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Neuromuscul Disord. 2006;16(9-10):541-547. doi:10.1016/j.nmd.2006.07.018

150.

Reichenbach J, Schubert R, Horvath R, et al. Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. Pediatr Res. 2006;60(3):321-326. doi:10.1203/01.pdr.0000233252.60457.cf

151.

Hoffmann K, Muller JS, Stricker S, et al. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet. 2006;79(2):303-312. doi:10.1086/506257

152.

Freisinger P, Futterer N, Lankes E, et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol. 2006;63(8):1129-1134. doi:10.1001/archneur.63.8.1129

153.

Merkli H, Pal E, Nagy F, et al. [Myopathy associated with respiratory insufficiency: diagnostic difficulties in adult-onset Pompe disease]. Orv Hetil. 2006;147(30):1421-1424.

154.

Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain. 2006;129(Pt 7):1674-1684. doi:10.1093/brain/awl088

155.

Hudson G, Keers S, Yu-Wai-Man P, et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am J Hum Genet. 2005;77(6):1086-1091. doi:10.1086/498176

156.

Luoma PT, Luo N, Loscher WN, et al. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet. 2005;14(14):1907-1920. doi:10.1093/hmg/ddi196

Publikationsverzeichnis

Prof. Dr. Rita Horváth

157.

Horvath R, Walter MC, Lochmuller H, et al. [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]. Ideggyogy Sz. 2005;58(1-2):52-58.

158.

Kovacs GG, Hoftberger R, Majtenyi K, et al. Neuropathology of white matter disease in Leber’s hereditary optic neuropathy. Brain. 2005;128(Pt 1):35-41. doi:10.1093/brain/awh310

159.

Chinnery PF, DiMauro S, Shanske S, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet. 2004;364(9434):592-596. doi:10.1016/S0140-6736(04)16851-7

160.

Antonicka H, Leary SC, Guercin G-H, et al. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. Hum Mol Genet. 2003;12(20):2693-2702. doi:10.1093/hmg/ddg284

161.

Wright V, Horvath R, Baird AE. Aortic dissection presenting as acute ischemic stroke. Neurology. 2003;61(4):581-582. doi:10.1212/01.wnl.0000079482.95766.dc