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Identification

Personal identification

Full name
Hilda Rita Horvath

Citation names

  • Horvath, Hilda

Author identifiers

Ciência ID
861A-233A-E916
ORCID iD
0000-0002-9841-170X
Education
Degree Classification
1996 - 2000
Concluded
 Mitochondrial disease (Doktor (PhD))
Semmelweis Egyetem, Hungary
1982/09/01 - 1988/09/01
Concluded
 Medicine (Doktorexamen)
Semmelweis Egyetem, Hungary
"MD" (THESIS/DISSERTATION)
 MD
Affiliation

Science

Category
Host institution 		Employer
2018/09/01 - Current Principal Investigator (Research) University of Cambridge, United Kingdom
Projects

Grant

Designation Funders
2021/04 - 2024/04 Targeting the cellular metabolism to treat tissue-specific mitochondrial diseases
Targeting the cellular metabolism to treat tissue-specific mitochondrial diseases
 Medical Research Council
Outputs

Publications

Book
  1. Schara, U.; Della Marina, A.; Horvath, R.. Reversible Infantile Respiratory Chain Deficiency. 2015.
Journal article
  1. "A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.". American journal of medical genetics. Part A (2022):
    10.1002/ajmg.a.62494
  2. Horvath, Hilda. "Molecular pathophysiology of human MICU1-deficiency". Neuropathology and Applied Neurobiology (2021):
    10.1111/nan.12694
  3. Horvath, Hilda. "Autosomal recessive variants in TUBGCP2 alter the ¿-tubulin ring complex leading to neurodevelopmental disease". iScience (2021):
    10.1016/j.isci.2020.101948
  4. "Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.". European journal of human genetics : EJHG (2021):
    10.1038/s41431-021-00937-3
  5. "Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1).". European journal of human genetics : EJHG (2021):
    10.1038/s41431-021-00851-8
  6. "[11C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease.". Neurology (2021):
    10.1212/WNL.0000000000012033
  7. "Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.". Human molecular genetics (2021):
    10.1093/hmg/ddab257
  8. "Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.". Journal of human genetics (2021):
    10.1038/s10038-021-00913-1
  9. "Primary mitochondrial myopathies in childhood.". Neuromuscular disorders : NMD (2021):
    10.1016/j.nmd.2021.08.005
  10. "Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.". Brain : a journal of neurology (2021):
    10.1093/brain/awab041
  11. "Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations.". Brain : a journal of neurology (2021):
    10.1093/brain/awab278
  12. "A founder mutation in the GMPPB gene [c.1000G¿>¿A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.". Neurogenetics (2021):
    10.1007/s10048-021-00658-1
  13. "Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.". BMJ (Clinical research ed.) (2021):
    10.1136/bmj-2021-066288
  14. "AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.". Gene therapy (2021):
    10.1038/s41434-021-00250-0
  15. "CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS". Proceedings of the National Academy of Sciences (2021):
    10.1073/pnas.2012898118
  16. "A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.". European journal of human genetics : EJHG (2021):
    10.1038/s41431-021-00900-2
  17. "White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia". Neurology Genetics (2021):
    10.1212/nxg.0000000000000640
  18. "High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.". Brain : a journal of neurology (2021):
    10.1093/brain/awab395
  19. "Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement". The Journal of Pathology (2021):
    10.1002/path.5812
  20. "Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency". Neuromuscular Disorders (2021):
    10.1016/j.nmd.2021.02.017
  21. "Solving unsolved rare neurological diseases—a Solve-RD viewpoint". European Journal of Human Genetics (2021):
    10.1038/s41431-021-00901-1
  22. "Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.". Journal of inherited metabolic disease (2021):
    10.1002/jimd.12341
  23. "100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report". New England Journal of Medicine (2021):
    10.1056/nejmoa2035790
  24. "Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.". Orphanet journal of rare diseases (2021):
    10.1186/s13023-021-01777-6
  25. "Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.". Journal of human genetics (2021):
    10.1038/s10038-021-00920-2
  26. "NEW GENES AND DISEASES". Neuromuscular Disorders (2021):
    10.1016/j.nmd.2021.07.330
  27. "Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.". Brain : a journal of neurology (2021):
    10.1093/brain/awab193
  28. "MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.". Nucleic acids research (2021):
    10.1093/nar/gkab726
  29. "INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.". Brain : a journal of neurology (2021):
    10.1093/brain/awab133
  30. "Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.". American journal of human genetics (2021):
    10.1016/j.ajhg.2021.08.003
  31. "Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3.". Frontiers in cell and developmental biology (2021):
    10.3389/fcell.2021.710247
  32. "The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.". Frontiers in neurology (2021):
    10.3389/fneur.2021.677551
  33. "Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.". Journal of neuromuscular diseases (2021):
    10.3233/JND-200565
  34. "Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.". Journal of neuromuscular diseases (2021):
    10.3233/JND-210715
  35. Horvath, Hilda. "Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.". Journal of the neurological sciences (2020): https://doi.org/10.1016/j.jns.2020.116707.
    10.1016/j.jns.2020.116707
  36. Horvath, Hilda. "Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.". Clinical genetics (2020):
    10.1111/cge.13827
  37. Horvath, Hilda. "De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.". American journal of human genetics (2020):
    10.1016/j.ajhg.2020.06.016
  38. Horvath, Hilda. "Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.". The EMBO journal (2020):
    10.15252/embj.2020105364
  39. Horvath, Hilda. "Ataxia telangiectasia: what the neurologist needs to know". Practical Neurology (2020):
    10.1136/practneurol-2019-002253
  40. Horvath, Hilda. "Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.". Brain & development (2020):
    10.1016/j.braindev.2020.04.008
  41. Horvath, Hilda. "Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.". Journal of neuromuscular diseases (2020):
    10.3233/jnd-200546
  42. Horvath, Hilda. "Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.". Clinical genetics (2020):
    10.1111/cge.13771
  43. Horvath, Hilda. "Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.". European journal of human genetics : EJHG (2020):
    10.1038/s41431-019-0506-2
  44. Horvath, Hilda. "Whole-genome sequencing of patients with rare diseases in a national health system.". Nature (2020):
    10.1038/s41586-020-2434-2
  45. Horvath, Hilda. "RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.". Life science alliance (2020):
    10.26508/lsa.202000678
  46. Horvath, Hilda. "Severe neurodevelopmental disease caused by a homozygous TLK2 variant.". European journal of human genetics : EJHG (2020):
    10.1038/s41431-019-0519-x
  47. Horvath, Hilda. "Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families". Journal of Neuromuscular Diseases (2020):
    10.3233/jnd-200510
  48. Horvath, Hilda. "Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.". Brain : a journal of neurology (2020):
    10.1093/brain/awaa323
  49. Horvath, Hilda. "The genetic landscape of axonal neuropathies in the middle-aged and elderly Focus on MME". Neurology (2020):
    10.1212/WNL.0000000000011132
  50. Horvath, Hilda. "Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.". The Journal of molecular diagnostics : JMD (2020):
    10.1016/j.jmoldx.2020.06.008
  51. Horvath, Hilda. "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.". Brain : a journal of neurology (2020):
    10.1093/brain/awz418
  52. Horvath, Hilda. "A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.". Acta neuropathologica communications (2020):
    10.1186/s40478-020-01043-z
  53. Horvath, Hilda. "Clinical presentation and proteomic signature of patients with TANGO2 mutations.". Journal of inherited metabolic disease (2020):
    10.1002/jimd.12156
  54. Horvath, Hilda. "Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.". Annals of neurology (2020):
    10.1002/ana.25751
  55. Horvath, Hilda. "Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.". Journal of neurology (2020):
    10.1007/s00415-020-10059-3
  56. Horvath, Hilda. "Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome". Frontiers in Molecular Neuroscience (2020):
    10.3389/fnmol.2020.594220
  57. Horvath, Hilda. "Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.". American journal of medical genetics. Part A (2020):
    10.1002/ajmg.a.61765
  58. Horvath, Hilda. "Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome.". Human molecular genetics (2019):
    10.1093/hmg/ddz059
  59. Horvath, Hilda. "Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study". The Lancet Neurology (2019):
    10.1016/S1474-4422(19)30142-5
  60. Horvath, Hilda. "Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.". Human mutation (2019):
    10.1002/humu.23777
  61. Horvath, Hilda. "A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).". Annals of neurology (2019):
    10.1002/ana.25500
  62. Horvath, Hilda. "SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human.". Neurobiology of disease (2019):
    10.1016/j.nbd.2018.11.019
  63. Horvath, Hilda. "Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish". Human Molecular Genetics (2019):
    10.1093/hmg/ddy389
  64. Horvath, Hilda. "MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.". Human molecular genetics (2019):
    10.1093/hmg/ddz008
  65. Horvath, Hilda. "HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing.". Molecular and cellular probes (2019):
    10.1016/j.mcp.2019.01.003
  66. Horvath, Hilda. "Diagnosis of 'possible' mitochondrial disease: an existential crisis.". Journal of medical genetics (2019):
    10.1136/jmedgenet-2018-105800
  67. Horvath, Hilda. "Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.". Annals of neurology (2019):
    10.1002/ana.25525
  68. Horvath, Hilda. "Consensus-based statements for the management of mitochondrial stroke-like episodes.". Wellcome open research (2019):
    10.12688/wellcomeopenres.15599.1
  69. Horvath, Hilda. "Mitochondrial DNA transcription and translation: clinical syndromes.". Essays in biochemistry (2018):
    10.1042/EBC20170103
  70. Horvath, Hilda. "First-line genomic diagnosis of mitochondrial disorders.". Nature reviews. Genetics (2018):
    10.1038/s41576-018-0022-1
  71. Horvath, Hilda. "Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.". Neuromuscular disorders : NMD (2018):
    10.1016/j.nmd.2018.08.007
  72. Horvath, Hilda. "Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.". Molecular genetics & genomic medicine (2018):
    10.1002/mgg3.500
  73. Horvath, Hilda. "Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.". Scientific reports (2018):
    10.1038/s41598-018-30143-z
  74. Horvath, Hilda. "SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.". Human genetics (2018):
    10.1007/s00439-018-1952-6
  75. Horvath, Hilda. "Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.". International journal of molecular sciences (2018):
    10.3390/ijms19124072
  76. Horvath, Hilda. "How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.". Neuromolecular medicine (2018):
    10.1007/s12017-018-8490-1
  77. Horvath, Hilda. "PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.". Journal of neurology, neurosurgery, and psychiatry (2018):
    10.1136/jnnp-2017-317562
  78. Horvath, Hilda. "AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?". Neurology. Genetics (2018):
    10.1212/NXG.0000000000000217
  79. Horvath, Hilda. "Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.". Human molecular genetics (2018):
    10.1093/hmg/ddy127
  80. Horvath, Hilda. "Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.". Clinical genetics (2018):
    10.1111/cge.13417
  81. Horvath, Hilda. "Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.". Genetics in medicine : official journal of the American College of Medical Genetics (2018):
    10.1038/gim.2017.251
  82. Horvath, Hilda. "Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo mutation.". Neurology (2018):
    10.1212/WNL.0000000000005566
  83. Horvath, Hilda. "Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.". American journal of human genetics (2018):
    10.1016/j.ajhg.2018.03.011
  84. Witters, P.; Saada, A.; Honzik, T.; Tesarova, M.; Kleinle, S.; Horvath, R.; Goldstein, A.; Morava, E.. "Revisiting mitochondrial diagnostic criteria in the new era of genomics". Genetics in Medicine 20 4 (2018): 444-451. http://www.scopus.com/inward/record.url?eid=2-s2.0-85045209287&partnerID=MN8TOARS.
    10.1038/gim.2017.125
  85. Boczonadi, V.; Jennings, M.J.; Horvath, R.. "The role of tRNA synthetases in neurological and neuromuscular disorders". FEBS Letters 592 5 (2018): 703-717. http://www.scopus.com/inward/record.url?eid=2-s2.0-85043982972&partnerID=MN8TOARS.
    10.1002/1873-3468.12962
  86. O'Byrne, J.J.; Tarailo-Graovac, M.; Ghani, A.; Champion, M.; Deshpande, C.; Dursun, A.; Ozgul, R.K.; et al. "The genotypic and phenotypic spectrum of MTO1 deficiency". Molecular Genetics and Metabolism 123 1 (2018): 28-42. http://www.scopus.com/inward/record.url?eid=2-s2.0-85041592861&partnerID=MN8TOARS.
    10.1016/j.ymgme.2017.11.003
  87. Bartsakoulia, M.; Pyle, A.; Troncoso-Chandía, D.; Vial-Brizzi, J.; Paz-Fiblas, M.V.; Duff, J.; Griffin, H.; et al. "A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies". Human Molecular Genetics 27 7 (2018): 1186-1195. http://www.scopus.com/inward/record.url?eid=2-s2.0-85044847967&partnerID=MN8TOARS.
    10.1093/hmg/ddy033
  88. Kullar, P.J.; Gomez-Duran, A.; Gammage, P.A.; Garone, C.; Minczuk, M.; Golder, Z.; Wilson, J.; 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 141 1 (2018): 55-62. http://www.scopus.com/inward/record.url?eid=2-s2.0-85040667948&partnerID=MN8TOARS.
    10.1093/brain/awx295
  89. Minnerop, M.; Kurzwelly, D.; Rattay, T.W.; Timmann, D.; Hengel, H.; Synofzik, M.; Stendel, C.; et al. "Reply: POLR3A variants in hereditary spastic paraplegia and ataxia". Brain 141 1 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85040678701&partnerID=MN8TOARS.
    10.1093/brain/awx291
  90. Roos, A.; Thompson, R.; Horvath, R.; Lochmüller, H.; Sickmann, A.. "Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases". Proteomics - Clinical Applications 12 2 (2018): http://www.scopus.com/inward/record.url?eid=2-s2.0-85031945803&partnerID=MN8TOARS.
    10.1002/prca.201700073
  91. Horvath, Hilda. "Response to Newman et al.". Genetics in medicine : official journal of the American College of Medical Genetics (2017):
    10.1038/gim.2017.164
  92. Horvath, Hilda. "Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.". Genetics in medicine : official journal of the American College of Medical Genetics (2017):
    10.1038/gim.2017.107
  93. Bansagi, B.; Griffin, H.; Whittaker, R.G.; Antoniadi, T.; Evangelista, T.; Miller, J.; Greenslade, M.; et al. "Genetic heterogeneity of motor neuropathies". Neurology 88 13 (2017): 1226-1234. http://www.scopus.com/inward/record.url?eid=2-s2.0-85016322394&partnerID=MN8TOARS.
    10.1212/WNL.0000000000003772
  94. Minnerop, M.; Kurzwelly, D.; Wagner, H.; Soehn, A.S.; Reichbauer, J.; Tao, F.; Rattay, T.W.; et al. "Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia". Brain 140 6 (2017): 1561-1578. http://www.scopus.com/inward/record.url?eid=2-s2.0-85021954603&partnerID=MN8TOARS.
    10.1093/brain/awx095
  95. Schrank, B.; Schoser, B.; Klopstock, T.; Schneiderat, P.; Horvath, R.; Abicht, A.; Holinski-Feder, E.; Augustis, S.. "Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency". Neuromuscular Disorders 27 5 (2017): 473-476. http://www.scopus.com/inward/record.url?eid=2-s2.0-85014434719&partnerID=MN8TOARS.
    10.1016/j.nmd.2017.02.005
  96. Panosyan, F.B.; Laura, M.; Rossor, A.M.; Pisciotta, C.; Piscosquito, G.; Burns, J.; Li, J.; et al. "Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)". Neurology 89 9 (2017): 927-935. http://www.scopus.com/inward/record.url?eid=2-s2.0-85028503158&partnerID=MN8TOARS.
    10.1212/WNL.0000000000004296
  97. Manole, A.; Jaunmuktane, Z.; Hargreaves, I.; Ludtmann, M.H.R.; Salpietro, V.; Bello, O.D.; Pope, S.; et al. "Clinical, pathological and functional characterization of riboflavin-responsive neuropathy". Brain 140 11 (2017): 2820-2837. http://www.scopus.com/inward/record.url?eid=2-s2.0-85032942874&partnerID=MN8TOARS.
    10.1093/brain/awx231
  98. Sleven, H.; Welsh, S.J.; Yu, J.; Churchill, M.E.A.; Wright, C.F.; Henderson, A.; Horvath, R.; et al. "De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome". American Journal of Human Genetics 100 1 (2017): 138-150. http://www.scopus.com/inward/record.url?eid=2-s2.0-85009737785&partnerID=MN8TOARS.
    10.1016/j.ajhg.2016.11.020
  99. Morarji, J.; Gillespie, R.; Sergouniotis, P.I.; Horvath, R.; Black, G.C.M.. "An unusual retinal phenotype associated with a mutation in sterol carrier protein scp2". JAMA Ophthalmology 135 2 (2017): 167-169. http://www.scopus.com/inward/record.url?eid=2-s2.0-85014564524&partnerID=MN8TOARS.
    10.1001/jamaophthalmol.2016.4985
  100. Maus, M.; Cuk, M.; Patel, B.; Lian, J.; Ouimet, M.; Kaufmann, U.; Yang, J.; et al. "Store-Operated Ca2+Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism". Cell Metabolism 25 3 (2017): 698-712. http://www.scopus.com/inward/record.url?eid=2-s2.0-85010918186&partnerID=MN8TOARS.
    10.1016/j.cmet.2016.12.021
  101. Fledrich, R.; Mannil, M.; Leha, A.; Ehbrecht, C.; Solari, A.; Pelayo-Negro, A.L.; Berciano, J.; et al. "Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A". Journal of Neurology, Neurosurgery and Psychiatry 88 11 (2017): 941-952. http://www.scopus.com/inward/record.url?eid=2-s2.0-85031708881&partnerID=MN8TOARS.
    10.1136/jnnp-2017-315721
  102. Shields, M.C.; Bowers, M.R.; Fulcer, M.M.; Bollig, M.K.; Rock, P.J.; Sutton, B.R.; Vrailas-Mortimer, A.D.; et al. "Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome". PLoS ONE 12 9 (2017): http://www.scopus.com/inward/record.url?eid=2-s2.0-85029901264&partnerID=MN8TOARS.
    10.1371/journal.pone.0184817
  103. Keogh, M.J.; Jaiser, S.R.; Steele, H.E.; Horvath, R.; Chinnery, P.F.; Baker, M.R.. "PLP1 mutations and central Demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers". Neurology: Clinical Practice 7 5 (2017): 451-454. http://www.scopus.com/inward/record.url?eid=2-s2.0-85032221699&partnerID=MN8TOARS.
    10.1212/CPJ.0000000000000346
  104. Mancuso, M.; McFarland, R.; Klopstock, T.; Hirano, M.; Artuch, R.; Bertini, E.; Bindoff, L.; et al. "International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy". Neuromuscular Disorders 27 12 (2017): 1126-1137. http://www.scopus.com/inward/record.url?eid=2-s2.0-85037989088&partnerID=MN8TOARS.
    10.1016/j.nmd.2017.08.006
  105. Steele, H.E.; Horvath, R.; Lyon, J.J.; Chinnery, P.F.. "Monitoring clinical progression with mitochondrial disease biomarkers". Brain 140 10 (2017): 2530-2540. http://www.scopus.com/inward/record.url?eid=2-s2.0-85030691583&partnerID=MN8TOARS.
    10.1093/brain/awx168
  106. Horvath, R.; Chinnery, P.F.. "The effect of neurological genomics and personalized mitochondrialmedicine". JAMA Neurology 74 1 (2017): 11-13. http://www.scopus.com/inward/record.url?eid=2-s2.0-85011339642&partnerID=MN8TOARS.
    10.1001/jamaneurol.2016.4506
  107. Horvath, Hilda. "Novel mutation causes both motor neuronopathy and distal myopathy.". Neurology. Genetics (2016):
    10.1212/NXG.0000000000000110
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