Rita Horvath

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. pmc Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    John P Kemp
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:183-95. 2011
  2. pmc Mitochondria: impaired mitochondrial translation in human disease
    Veronika Boczonadi
    Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK
    Int J Biochem Cell Biol 48:77-84. 2014
  3. ncbi request reprint Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    J Inherit Metab Dis 35:679-87. 2012
  4. ncbi request reprint A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Mov Disord 27:789-93. 2012
  5. ncbi request reprint Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    J Neurol Neurosurg Psychiatry 83:174-8. 2012
  6. doi request reprint Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia
    Rita Horvath
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, Munich 80336, Germany
    J Neurol 256:810-5. 2009
  7. pmc Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
    Rita Horvath
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Brain 132:3165-74. 2009
  8. pmc What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 135:3614-26. 2012
  9. pmc Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 11:620-2. 2011
  10. doi request reprint Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 257:1517-23. 2010

Detail Information

Publications50

  1. pmc Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    John P Kemp
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 134:183-95. 2011
    ....
  2. pmc Mitochondria: impaired mitochondrial translation in human disease
    Veronika Boczonadi
    Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK
    Int J Biochem Cell Biol 48:77-84. 2014
    ..Better understanding of the mitochondrial protein synthesis apparatus will help us to explore disease mechanisms and will provide clues for developing novel therapies. ..
  3. ncbi request reprint Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    J Inherit Metab Dis 35:679-87. 2012
    ..CoQ(10) supplementation may be beneficial in both primary and secondary deficiencies and therefore the early recognition of these diseases is of utmost importance...
  4. ncbi request reprint A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Mov Disord 27:789-93. 2012
    ..Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes...
  5. ncbi request reprint Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3
    Rita Horvath
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    J Neurol Neurosurg Psychiatry 83:174-8. 2012
    ..Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients and only very few can receive causative therapy...
  6. doi request reprint Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia
    Rita Horvath
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Ziemssenstr 1a, Munich 80336, Germany
    J Neurol 256:810-5. 2009
    ..Our finding adds to the genetic heterogeneity of MNGIE-like gastrointestinal symptoms and highlights the importance of a thorough genetic workup in case of suspected mitochondrial disease...
  7. pmc Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
    Rita Horvath
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    Brain 132:3165-74. 2009
    ..This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis...
  8. pmc What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Brain 135:3614-26. 2012
    ..Our results suggest that the mitochondrial DNA background plays an important role in modifying the disease phenotype but nuclear modifiers, epigenetic and environmental factors may also influence the severity of disease...
  9. pmc Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON
    Gavin Hudson
    Institute for Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 11:620-2. 2011
    ..Our findings suggest that genetic variation in MAPT is unlikely to make a major contribution to the risk of blindness among LHON mutation carriers...
  10. doi request reprint Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2
    Maggie C Walter
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 257:1517-23. 2010
    ..We did not detect POLG2 mutations in 62 patients with multiple mtDNA deletions in muscle DNA, suggesting that POLG2 mutations may represent a rare cause of autosomal dominant PEO...
  11. doi request reprint The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype
    Charlotte L Alston
    Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK
    Neuromuscul Disord 20:403-6. 2010
    ..3243A>T mutation with COX deficiency...
  12. pmc Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
    Veronika Boczonadi
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 22:4602-15. 2013
    ..Our results show that l-cysteine supplementation is a potential treatment for RIRCD and for TRMU deficiency, and is likely to have broader application for the growing group of intra-mitochondrial translation disorders. ..
  13. doi request reprint POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Biochim Biophys Acta 1812:321-5. 2011
    ....
  14. pmc Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, UK
    J Neurol Neurosurg Psychiatry 83:883-6. 2012
    ..The authors report two families with onset of ataxia in adulthood (with pyramidal dysfunction and/or peripheral neuropathy variably present), who are clinically indistinguishable from other spinocerebellar ataxia patients...
  15. pmc Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization
    Angela Pyle
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle upon Tyne, UK
    J Neurogenet 27:176-82. 2013
    ....
  16. pmc Mitochondrial DNA deletions in muscle satellite cells: implications for therapies
    Sally Spendiff
    Wellcome Trust Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    Hum Mol Genet 22:4739-47. 2013
    ..Our data suggest that the mutations are also lost during rapid replication in vivo, implying that strategies to activate satellite cells remain a viable treatment for mitochondrial myopathies in specific patient groups...
  17. ncbi request reprint Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    J Neurol Neurosurg Psychiatry 85:331-8. 2014
    ..Some of the original patients had features resembling myofibrillar myopathy (MFM), arguing that TTN mutations could be a much more common cause of inherited muscle disease, especially in presence of early respiratory involvement...
  18. ncbi request reprint Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy
    Achilles Spyropoulos
    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England
    JAMA Neurol 70:1552-5. 2013
    ..The phenotypic heterogeneity is partly owing to different percentage levels of mutant mtDNA heteroplasmy in different tissues, but the factors influencing this are poorly understood...
  19. pmc Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
    Vivienne C M Neeve
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mitochondrion 13:743-8. 2013
    ..Our data illustrate that exome sequencing is an excellent diagnostic tool, and its value in clinical medicine is enormous, however it can only be optimally exploited if combined with detailed phenotyping and functional studies. ..
  20. pmc Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
    Gerald Pfeffer
    1 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Brain 137:1323-36. 2014
    ..The complex neurological phenotype is likely a result of the clonal expansion of secondary mitochondrial DNA mutations modulating the phenotype, driven by compensatory mitochondrial biogenesis. ..
  21. pmc Universal heteroplasmy of human mitochondrial DNA
    Brendan A I Payne
    Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastleupon Tyne NE1 3BZ, UK
    Hum Mol Genet 22:384-90. 2013
    ..Ostensibly de novo somatic mtDNA mutations, seen in mtDNA maintenance disorders and neurodegenerative disease and aging, will partly be due to the clonal expansion of low-level inherited variants...
  22. pmc Genetic variations within the OPA1 gene are not associated with neuromyelitis optica
    Kamil S Sitarz
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, UK
    Mult Scler 18:240-3. 2012
    ..We therefore screened for OPA1 in 32 patients with NMO. No pathogenic mutations were found, and none of the 13 single-nucleotide polymorphisms identified were associated with an increased risk of developing NMO...
  23. doi request reprint A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy
    Charlotte L Alston
    Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    Neuromuscul Disord 20:131-5. 2010
    ....
  24. ncbi request reprint X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy
    Gavin Hudson
    Mitochondrial Research Group, Newcastle University, UK
    Mol Vis 13:2339-43. 2007
    ..Small studies have failed to detect dramatic skewed X-inactivation in women transmitting LHON mutations. However, segregation analyses predicted skewing only in a proportion of women, which would not have been detected in these studies...
  25. ncbi request reprint Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
    Robert W Taylor
    Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, England
    JAMA 312:68-77. 2014
    ....
  26. pmc Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder
    Gavin Hudson
    Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
    Am J Hum Genet 77:1086-91. 2005
    ..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
  27. ncbi request reprint New treatments for mitochondrial disease-no time to drop our standards
    Gerald Pfeffer
    Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Ageing and Health, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK
    Nat Rev Neurol 9:474-81. 2013
    ..In this Perspectives article, we make recommendations for the design of future treatment trials in mitochondrial diseases. Patients and physicians should no longer rely on potentially biased data, with the associated costs and risks. ..
  28. ncbi request reprint Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing
    Angela Pyle
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England
    Arch Neurol 69:1351-4. 2012
    ..To determine the genetic basis of an unexplained multisystem neurological disorder affecting 2 siblings...
  29. pmc In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion
    Stefanie Bulst
    Medical Genetic Center, Munich, Germany
    Mol Genet Metab 107:95-103. 2012
    ....
  30. pmc Titin mutation segregates with hereditary myopathy with early respiratory failure
    Gerald Pfeffer
    Institute of Genetic Medicine, Central Parkway, Newcastle, NE1 3BZ, UK
    Brain 135:1695-713. 2012
    ..With 363 exons, screening TTN presented a major challenge until recently. However, whole exome sequencing provides a reliable cost-effective approach, providing the gene of interest is adequately captured...
  31. doi request reprint Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation
    Helen A L Tuppen
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    Mol Genet Metab 100:345-8. 2010
    ..Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood...
  32. doi request reprint The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA
    Rita Horvath
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Ziemssenstr 1, 80336 Munich, Germany
    Neuromuscul Disord 18:553-6. 2008
    ..These findings support the significant role of complex I mutations in MELAS...
  33. pmc Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
    Gavin Hudson
    Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
    Am J Hum Genet 81:228-33. 2007
    ..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...
  34. doi request reprint In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes
    Stefanie Bulst
    Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Germany
    Hum Mol Genet 18:1590-9. 2009
    ..No adverse effect on mtDNA copy number was observed on high-dose supplementation in vitro. Further studies are needed to determine possible therapeutic implications of dAMP/dGMP supplementation for DGUOK deficiency in vivo...
  35. pmc Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions
    Charlotte L Alston
    From Newcastle University C L A, A M S, P R, K J K, E L B, L H, K C, R H, D M T, G S G, R W T, Newcastle upon Tyne, UK Karolinska Institute N S, A K, Stockholm, Sweden Hope Hospital M R, Salford and Royal Preston Hospital A V, J N, Preston, UK
    Neurology 81:2051-3. 2013
    ..Mutations in nuclear genes involved in the maintenance of mitochondrial DNA (mtDNA) are associated with an extensive spectrum of clinical phenotypes, manifesting as either mtDNA depletion syndromes or multiple mtDNA deletion disorders.(1.) ..
  36. ncbi request reprint Mitochondrial myopathies: developments in treatment
    Adam Hassani
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Curr Opin Neurol 23:459-65. 2010
    ..Existing therapies continue to be evaluated and novel treatment strategies are starting to appear on the horizon...
  37. ncbi request reprint Risk of developing a mitochondrial DNA deletion disorder
    Patrick F Chinnery
    Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 364:592-6. 2004
    ..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known...
  38. pmc Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity
    Joanna D Stewart
    Mitochondrial Research Group, Institute of Human Genetics, Newcastle University, UK
    Hepatology 52:1791-6. 2010
    ..Therapeutic doses of VPA inhibited human cellular proliferation and high doses caused nonapoptotic cell death, which was not mediated through mitochondrial DNA depletion, mutation, or a defect of fatty acid metabolism...
  39. ncbi request reprint Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
    Tobias B Haack
    Institute of Human Genetics, Technische Universitat Munchen, Munich, Germany
    J Med Genet 49:83-9. 2012
    ..Identification of the molecular basis is difficult given the clinical and genetic heterogeneity. Most patients lack a molecular definition in routine diagnostics...
  40. ncbi request reprint The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
    Klaus Gempel
    Metabolic Disease Center Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics Academic Hospital Schwabing, Munich, Germany
    Brain 130:2037-44. 2007
    ..We suggest to give patients both CoQ10 and riboflavin supplementation, especially for long-term treatment...
  41. pmc The prevalence and natural history of dominant optic atrophy due to OPA1 mutations
    Patrick Yu-Wai-Man
    Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, UK
    Ophthalmology 117:1538-46, 1546.e1. 2010
    ..To define the prevalence and natural history of this optic nerve disorder, we performed a population-based epidemiologic and molecular study of presumed DOA cases in the north of England...
  42. pmc Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations
    Brendan A I Payne
    Mitochondrial Research Group, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Nat Genet 43:806-10. 2011
    ..These observations add weight to the role of somatic mtDNA mutations in the aging process and raise the specter of progressive iatrogenic mitochondrial genetic disease emerging over the next decade...
  43. pmc Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts
    Kamil S Sitarz
    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ UK
    Mol Genet Metab 112:57-63. 2014
    ....
  44. doi request reprint The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
    Peter Reilich
    Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University, Munich, Germany
    J Neurol 258:1987-97. 2011
    ..Beta-adrenergic agents may be beneficial in improving triacylglycerol breakdown in patients with PNPLA2 mutations...
  45. doi request reprint How can we treat mitochondrial encephalomyopathies? Approaches to therapy
    Rita Horvath
    Mitochondrial Research Group, School of Neuroscience, University of Newcastle upon Tyne, United Kingdom
    Neurotherapeutics 5:558-68. 2008
    ..Here, we evaluate therapies used previously and review current and future treatment modalities for both adults and children with mitochondrial disease...
  46. doi request reprint Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions
    Fritz Georg Lehnhardt
    Department of Neurology, University of Cologne, Koln, Germany
    Arch Neurol 65:407-11. 2008
    ..To determine the involvement of cerebral metabolism in 2 siblings with mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE)-like disease with multiple mitochondrial DNA (mtDNA) deletions...
  47. ncbi request reprint Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys
    Rita Horvath
    Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany
    Neurology 68:56-8. 2007
    ..Similar to previously reported patients with parkinsonism and mtDNA deletions, the symptoms of our patient responded favorably to levodopa therapy...
  48. ncbi request reprint Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients
    Wolfgang Müller-Felber
    Haunersche Kinderklinik, Childrens Hospital, Ludwig Maximilians University, Lindwurmstr 4, 80337 Munich, Germany
    Neuromuscul Disord 17:698-706. 2007
    ..Pompe disease should be taken into consideration in patients with unexplained limb girdle muscular weakness with respiratory failure. Cardiac manifestations may not be restricted to infantile Pompe disease...
  49. pmc Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
    Robert D S Pitceathly
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Brain 135:3392-403. 2012
    ....
  50. ncbi request reprint EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
    Veronika Boczonadi
    1 Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK 2
    Nat Commun 5:4287. 2014
    ..These findings show the central role of the exosomal pathway in neurodegenerative disease. ..