Publications

  1. Osuagwu, N, Dölle, C, Tzoulis, C. Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix. PLoS ONE. 2019;14 (7):e0219909. doi: 10.1371/journal.pone.0219909. PubMed PMID:31323073 PubMed Central PMC6641658.
  2. Truong, GT, Park, SH, Choi, KK. Tensile Behaviors of Lap-Spliced Carbon Fiber-Textile Reinforced Mortar Composites Exposed to High Temperature. Materials (Basel). 2019;12 (9):. doi: 10.3390/ma12091512. PubMed PMID:31075851 PubMed Central PMC6539627.
  3. Sundal, C, Axelsson, M, Wiklund, L, Lindberg, C, Andersen, O. A SCA7 premutation may be a novel Mendelian modifier of MS course: A case report. Mult Scler Relat Disord. 2019;31 :148-150. doi: 10.1016/j.msard.2019.04.009. PubMed PMID:30999137 .
  4. Han, L, Madan, V, Mayakonda, A, Dakle, P, Woon, TW, Shyamsunder, P, Nordin, HBM, Cao, Z, Sundaresan, J, Lei, I, Wang, Z, Koeffler, HP. Chromatin remodeling mediated by ARID1A is indispensable for normal hematopoiesis in mice. Leukemia. 2019; :. doi: 10.1038/s41375-019-0438-4. PubMed PMID:30858552 .
  5. Bhatt, PS, Tzoulis, C, Balafkan, N, Miletic, H, Tran, GTT, Sanaker, PS, Bindoff, LA. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscul. Disord. 2019;29 (3):242-246. doi: 10.1016/j.nmd.2019.02.001. PubMed PMID:30850168 .
  6. Demarest, TG, Truong, GTD, Lovett, J, Mohanty, JG, Mattison, JA, Mattson, MP, Ferrucci, L, Bohr, VA, Moaddel, R. Assessment of NAD+metabolism in human cell cultures, erythrocytes, cerebrospinal fluid and primate skeletal muscle. Anal. Biochem. 2019;572 :1-8. doi: 10.1016/j.ab.2019.02.019. PubMed PMID:30822397 PubMed Central PMC6685425.
  7. Desjardins, M, Arjunaraja, S, Stinson, JR, Dorjbal, B, Sundaresan, J, Niemela, J, Raffeld, M, Matthews, HF, Wang, A, Angelus, P, Su, HC, Mazer, BD, Snow, AL. A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family. Front Immunol. 2018;9 :2944. doi: 10.3389/fimmu.2018.02944. PubMed PMID:30619304 PubMed Central PMC6299974.
  8. Gaare, JJ, Nido, GS, Sztromwasser, P, Knappskog, PM, Dahl, O, Lund-Johansen, M, Maple-Grødem, J, Alves, G, Tysnes, OB, Johansson, S, Haugarvoll, K, Tzoulis, C. Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease. Mov. Disord. 2018;33 (10):1591-1600. doi: 10.1002/mds.64. PubMed PMID:30256453 PubMed Central PMC6282592.
  9. Hikmat, O, Tzoulis, C, Chong, WK, Chentouf, L, Klingenberg, C, Fratter, C, Carr, LJ, Prabhakar, P, Kumaraguru, N, Gissen, P, Cross, JH, Jacques, TS, Taanman, JW, Bindoff, LA, Rahman, S. Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet. Med. 2019;21 (4):1027. doi: 10.1038/s41436-018-0098-1. PubMed PMID:30228318 .
  10. Schweizer, P, Dolle, C, Spiecker, E. In situ manipulation and switching of dislocations in bilayer graphene. Sci Adv. 2018;4 (8):eaat4712. doi: 10.1126/sciadv.aat4712. PubMed PMID:30105305 PubMed Central PMC6086622.
  11. Madan, V, Han, L, Hattori, N, Teoh, WW, Mayakonda, A, Sun, QY, Ding, LW, Nordin, HBM, Lim, SL, Shyamsunder, P, Dakle, P, Sundaresan, J, Doan, NB, Sanada, M, Sato-Otsubo, A, Meggendorfer, M, Yang, H, Said, JW, Ogawa, S, Haferlach, T, Liang, DC, Shih, LY, Nakamaki, T, Wang, QT, Koeffler, HP. ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion. Haematologica. 2018;103 (12):1980-1990. doi: 10.3324/haematol.2018.189928. PubMed PMID:30093396 PubMed Central PMC6269306.
  12. Lunde, KA, Chung, J, Dalen, I, Pedersen, KF, Linder, J, Domellöf, ME, Elgh, E, Macleod, AD, Tzoulis, C, Larsen, JP, Tysnes, OB, Forsgren, L, Counsell, CE, Alves, G, Maple-Grødem, J. Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease. Alzheimers Dement. 2018;14 (10):1293-1301. doi: 10.1016/j.jalz.2018.04.006. PubMed PMID:29792872 .
  13. Sundal, C, Tedroff, J. Lakartidningen. 2018;115 :. . PubMed PMID:29762814 .
  14. Flønes, IH, Tzoulis, C. Movement disorders in mitochondrial disease: a clinicopathological correlation. Curr. Opin. Neurol. 2018;31 (4):472-483. doi: 10.1097/WCO.0000000000000583. PubMed PMID:29750731 .
  15. Brakedal, B. Tidsskr. Nor. Laegeforen. 2018;138 (7):. doi: 10.4045/tidsskr.18.0002. PubMed PMID:29663779 .
  16. Maple-Grødem, J, Chung, J, Lunde, KA, Tzoulis, C, Tysnes, OB, Pedersen, KF, Alves, G. Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease. Neurosci. Lett. 2018;674 :123-126. doi: 10.1016/j.neulet.2018.03.036. PubMed PMID:29567423 .
  17. Erga, AH, Dalen, I, Ushakova, A, Chung, J, Tzoulis, C, Tysnes, OB, Alves, G, Pedersen, KF, Maple-Grødem, J. Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson's Disease. Front Neurol. 2018;9 :109. doi: 10.3389/fneur.2018.00109. PubMed PMID:29541058 PubMed Central PMC5835501.
  18. Buonvicino, D, Mazzola, F, Zamporlini, F, Resta, F, Ranieri, G, Camaioni, E, Muzzi, M, Zecchi, R, Pieraccini, G, Dölle, C, Calamante, M, Bartolucci, G, Ziegler, M, Stecca, B, Raffaelli, N, Chiarugi, A. Identification of the Nicotinamide Salvage Pathway as a New Toxification Route for Antimetabolites. Cell Chem Biol. 2018;25 (4):471-482.e7. doi: 10.1016/j.chembiol.2018.01.012. PubMed PMID:29478906 .
  19. Stige, KE, Gjerde, IO, Houge, G, Knappskog, PM, Tzoulis, C. Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. Clin Case Rep. 2018;6 (2):353-362. doi: 10.1002/ccr3.1358. PubMed PMID:29445477 PubMed Central PMC5799652.
  20. Schirowski, M, Abellán, G, Nuin, E, Pampel, J, Dolle, C, Wedler, V, Fellinger, TP, Spiecker, E, Hauke, F, Hirsch, A. Fundamental Insights into the Reductive Covalent Cross-Linking of Single-Walled Carbon Nanotubes. J. Am. Chem. Soc. 2018;140 (9):3352-3360. doi: 10.1021/jacs.7b12910. PubMed PMID:29405064 .
  21. Gaare, JJ, Nido, GS, Sztromwasser, P, Knappskog, PM, Dahl, O, Lund-Johansen, M, Alves, G, Tysnes, OB, Johansson, S, Haugarvoll, K, Tzoulis, C. No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain. 2018;141 (3):e16. doi: 10.1093/brain/awx378. PubMed PMID:29373637 PubMed Central PMC5837630.
  22. Dölle, C, Bindoff, LA, Tzoulis, C. 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Sci Rep. 2018;8 (1):1272. doi: 10.1038/s41598-018-19745-9. PubMed PMID:29352159 PubMed Central PMC5775208.
  23. Flønes, IH, Fernandez-Vizarra, E, Lykouri, M, Brakedal, B, Skeie, GO, Miletic, H, Lilleng, PK, Alves, G, Tysnes, OB, Haugarvoll, K, Dölle, C, Zeviani, M, Tzoulis, C. Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage. Acta Neuropathol. 2018;135 (3):409-425. doi: 10.1007/s00401-017-1794-7. PubMed PMID:29270838 .
  24. Nido, GS, Dölle, C, Flønes, I, Tuppen, HA, Alves, G, Tysnes, OB, Haugarvoll, K, Tzoulis, C. Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease. Neurobiol. Aging. 2018;63 :120-127. doi: 10.1016/j.neurobiolaging.2017.10.024. PubMed PMID:29257976 .
  25. Villaseñor, R, Schilling, M, Sundaresan, J, Lutz, Y, Collin, L. Sorting Tubules Regulate Blood-Brain Barrier Transcytosis. Cell Rep. 2017;21 (11):3256-3270. doi: 10.1016/j.celrep.2017.11.055. PubMed PMID:29241551 .
  26. Dölle, C, Ziegler, M. ADP-ribosylation of DNA moving into focus. FEBS J. 2017;284 (23):3999-4001. doi: 10.1111/febs.14326. PubMed PMID:29205912 .
  27. Sofou, K, de Coo, IFM, Ostergaard, E, Isohanni, P, Naess, K, De Meirleir, L, Tzoulis, C, Uusimaa, J, Lönnqvist, T, Bindoff, LA, Tulinius, M, Darin, N. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. J. Med. Genet. 2018;55 (1):21-27. doi: 10.1136/jmedgenet-2017-104891. PubMed PMID:29101127 .
  28. Hikmat, O, Tzoulis, C, Klingenberg, C, Rasmussen, M, Tallaksen, CME, Brodtkorb, E, Fiskerstrand, T, McFarland, R, Rahman, S, Bindoff, LA. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. J. Inherit. Metab. Dis. 2018;41 (1):153. doi: 10.1007/s10545-017-0092-9. PubMed PMID:28952135 .
  29. Hwang, J, Kim, H, Truong, GV, Xuan, J, Hasenberg, T, Kang, HW. Dual-wavelength-assisted thermal hemostasis for treatment of benign prostate hyperplasia. J Biophotonics. 2018;11 (4):e201700192. doi: 10.1002/jbio.201700192. PubMed PMID:28926200 .
  30. Hikmat, O, Tzoulis, C, Klingenberg, C, Rasmussen, M, Tallaksen, CME, Brodtkorb, E, Fiskerstrand, T, McFarland, R, Rahman, S, Bindoff, LA. The presence of anaemia negatively influences survival in patients with POLG disease. J. Inherit. Metab. Dis. 2017;40 (6):861-866. doi: 10.1007/s10545-017-0084-9. PubMed PMID:28865037 .
  31. Brakedal, B, Flønes, I, Reiter, SF, Torkildsen, Ø, Dölle, C, Assmus, J, Haugarvoll, K, Tzoulis, C. Glitazone use associated with reduced risk of Parkinson's disease. Mov. Disord. 2017;32 (11):1594-1599. doi: 10.1002/mds.27128. PubMed PMID:28861893 PubMed Central PMC5697685.
  32. Hikmat, O, Eichele, T, Tzoulis, C, Bindoff, LA. Understanding the Epilepsy in POLG Related Disease. Int J Mol Sci. 2017;18 (9):. doi: 10.3390/ijms18091845. PubMed PMID:28837072 PubMed Central PMC5618494.
  33. VanLinden, MR, Niere, M, Nikiforov, AA, Ziegler, M, Dölle, C. Compartment-Specific Poly-ADP-Ribose Formation as a Biosensor for Subcellular NAD Pools. Methods Mol. Biol. 2017;1608 :45-56. doi: 10.1007/978-1-4939-6993-7_4. PubMed PMID:28695502 .
  34. Guida, C, Stephen, S, Guitton, R, Ramracheya, RD. The Role of PYY in Pancreatic Islet Physiology and Surgical Control of Diabetes. Trends Endocrinol. Metab. 2017;28 (8):626-636. doi: 10.1016/j.tem.2017.04.005. PubMed PMID:28533020 .
  35. Hikmat, O, Tzoulis, C, Chong, WK, Chentouf, L, Klingenberg, C, Fratter, C, Carr, LJ, Prabhakar, P, Kumaraguru, N, Gissen, P, Cross, JH, Jacques, TS, Taanman, JW, Bindoff, LA, Rahman, S. The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet. Med. 2017;19 (11):1217-1225. doi: 10.1038/gim.2017.35. PubMed PMID:28471437 .
  36. Pakdaman, Y, Sanchez-Guixé, M, Kleppe, R, Erdal, S, Bustad, HJ, Bjørkhaug, L, Haugarvoll, K, Tzoulis, C, Heimdal, K, Knappskog, PM, Johansson, S, Aukrust, I. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Biosci. Rep. 2017;37 (2):. doi: 10.1042/BSR20170251. PubMed PMID:28396517 PubMed Central PMC5408658.
  37. Varhaug, KN, Vedeler, CA, Tzoulis, C, Bindoff, LA. [Multiple sclerosis - a mitochondria-mediated disease?]. Tidsskr. Nor. Laegeforen. 2017;137 (4):284-287. doi: 10.4045/tidsskr.16.0210. PubMed PMID:28225235 .
  38. Haugarvoll, K, Johansson, S, Rodriguez, CE, Boman, H, Haukanes, BI, Bruland, O, Roque, F, Jonassen, I, Blomqvist, M, Telstad, W, Månsson, JE, Knappskog, PM, Bindoff, LA. GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies. PLoS ONE. 2017;12 (1):e0169309. doi: 10.1371/journal.pone.0169309. PubMed PMID:28052128 PubMed Central PMC5215700.
  39. Brakedal, B, Haugarvoll, K, Tzoulis, C. Simvastatin is associated with decreased risk of Parkinson disease. Ann. Neurol. 2017;81 (2):329-330. doi: 10.1002/ana.24857. PubMed PMID:28019662 .
  40. Varhaug, KN, Vedeler, CA, Myhr, KM, Aarseth, JH, Tzoulis, C, Bindoff, LA. Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion. 2017;34 :32-35. doi: 10.1016/j.mito.2016.12.003. PubMed PMID:28017684 .
  41. Dölle, C, Flønes, I, Nido, GS, Miletic, H, Osuagwu, N, Kristoffersen, S, Lilleng, PK, Larsen, JP, Tysnes, OB, Haugarvoll, K, Bindoff, LA, Tzoulis, C. Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nat Commun. 2016;7 :13548. doi: 10.1038/ncomms13548. PubMed PMID:27874000 PubMed Central PMC5121427.
  42. Butz, B, Dolle, C, Halbig, CE, Spiecker, E, Eigler, S. Highly Intact and Pure Oxo-Functionalized Graphene: Synthesis and Electron-Beam-Induced Reduction. Angew. Chem. Int. Ed. Engl. 2016;55 (51):15771-15774. doi: 10.1002/anie.201608377. PubMed PMID:27865029 .
  43. Gaare, JJ, Skeie, GO, Tzoulis, C, Larsen, JP, Tysnes, OB. Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia. Mov. Disord. 2017;32 (2):241-245. doi: 10.1002/mds.26856. PubMed PMID:27862270 .
  44. Tzoulis, C, Henriksen, E, Miletic, H, Bindoff, LA. No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion. 2017;32 :10-15. doi: 10.1016/j.mito.2016.11.004. PubMed PMID:27838477 .
  45. Abdullah, R, Patil, KS, Rosen, B, Pal, R, Prabhudesai, S, Lee, S, Basak, I, Hoedt, E, Yang, P, Panick, K, Ho, HP, Chang, E, Tzoulis, C, Larsen, JP, Neubert, TA, Alves, G, Møller, SG. Subcellular Parkinson's Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration. Mol. Neurobiol. 2017;54 (10):7639-7655. doi: 10.1007/s12035-016-0266-8. PubMed PMID:27837450 .
  46. Talasila, KM, Røsland, GV, Hagland, HR, Eskilsson, E, Flønes, IH, Fritah, S, Azuaje, F, Atai, N, Harter, PN, Mittelbronn, M, Andersen, M, Joseph, JV, Hossain, JA, Vallar, L, Noorden, CJ, Niclou, SP, Thorsen, F, Tronstad, KJ, Tzoulis, C, Bjerkvig, R, Miletic, H. The angiogenic switch leads to a metabolic shift in human glioblastoma. Neuro-oncology. 2017;19 (3):383-393. doi: 10.1093/neuonc/now175. PubMed PMID:27591677 PubMed Central PMC5464376.
  47. Tzoulis, C, Schwarzlmüller, T, Biermann, M, Haugarvoll, K, Bindoff, LA. Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion. 2016;28 :33-7. doi: 10.1016/j.mito.2016.03.003. PubMed PMID:26979109 .
  48. Flønes, I, Sztromwasser, P, Haugarvoll, K, Dölle, C, Lykouri, M, Schwarzlmüller, T, Jonassen, I, Miletic, H, Johansson, S, Knappskog, PM, Bindoff, LA, Tzoulis, C. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. PLoS ONE. 2016;11 (2):e0149055. doi: 10.1371/journal.pone.0149055. PubMed PMID:26863430 PubMed Central PMC4749299.
  49. Haugarvoll, K, Bindoff, LA, Tzoulis, C. Nigrostriatal denervation sine parkinsonism. Brain. 2016;139 (Pt 4):e25. doi: 10.1093/brain/awv410. PubMed PMID:26811251 .
  50. Flønes, IH, Haugarvoll, K, Sundal, C, Tzoulis, C. A woman in her 70s with chronic walking difficulties. Tidsskr. Nor. Laegeforen. 2015;135 (19):1753-5. doi: 10.4045/tidsskr.15.0111. PubMed PMID:26486671 .
  51. VanLinden, MR, Dölle, C, Pettersen, IK, Kulikova, VA, Niere, M, Agrimi, G, Dyrstad, SE, Palmieri, F, Nikiforov, AA, Tronstad, KJ, Ziegler, M. Subcellular Distribution of NAD+ between Cytosol and Mitochondria Determines the Metabolic Profile of Human Cells. J. Biol. Chem. 2015;290 (46):27644-59. doi: 10.1074/jbc.M115.654129. PubMed PMID:26432643 PubMed Central PMC4646015.
  52. Kulikova, V, Shabalin, K, Nerinovski, K, Dölle, C, Niere, M, Yakimov, A, Redpath, P, Khodorkovskiy, M, Migaud, ME, Ziegler, M, Nikiforov, A. Generation, Release, and Uptake of the NAD Precursor Nicotinic Acid Riboside by Human Cells. J. Biol. Chem. 2015;290 (45):27124-37. doi: 10.1074/jbc.M115.664458. PubMed PMID:26385918 PubMed Central PMC4646395.
  53. Brakedal, B. [A clinician and a bayesian]. Tidsskr. Nor. Laegeforen. 2015;135 (16):1468-70. doi: 10.4045/tidsskr.15.0557. PubMed PMID:26356460 .
  54. Bjørk, MH, Gjerde, IO, Tzoulis, C, Ulvik, RJ, Bindoff, LA. A man in his 50s with high ferritin levels and increasing cognitive impairment. Tidsskr. Nor. Laegeforen. 2015;135 (15):1369-72. doi: 10.4045/tidsskr.14.1115. PubMed PMID:26315240 .
  55. Nido, GS, Ryan, MM, Benuskova, L, Williams, JM. Dynamical properties of gene regulatory networks involved in long-term potentiation. Front Mol Neurosci. 2015;8 :42. doi: 10.3389/fnmol.2015.00042. PubMed PMID:26300724 PubMed Central PMC4528166.
  56. Oftedal, BE, Hellesen, A, Erichsen, MM, Bratland, E, Vardi, A, Perheentupa, J, Kemp, EH, Fiskerstrand, T, Viken, MK, Weetman, AP, Fleishman, SJ, Banka, S, Newman, WG, Sewell, WA, Sozaeva, LS, Zayats, T, Haugarvoll, K, Orlova, EM, Haavik, J, Johansson, S, Knappskog, PM, Løvås, K, Wolff, AS, Abramson, J, Husebye, ES. Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity. 2015;42 (6):1185-96. doi: 10.1016/j.immuni.2015.04.021. PubMed PMID:26084028 .
  57. Tzoulis, C, Schwarzlmüller, T, Gjerde, IO, Søfteland, E, Neckelmann, G, Biermann, M, Haroche, J, Straume, O, Vintermyr, OK. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. BMC Res Notes. 2015;8 :171. doi: 10.1186/s13104-015-1135-7. PubMed PMID:25926131 PubMed Central PMC4450489.
  58. Albanese, A, Abbruzzese, G, Dressler, D, Duzynski, W, Khatkova, S, Marti, MJ, Mir, P, Montecucco, C, Moro, E, Pinter, M, Relja, M, Roze, E, Skogseid, IM, Timerbaeva, S, Tzoulis, C. Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement. J. Neurol. 2015;262 (10):2201-13. doi: 10.1007/s00415-015-7703-x. PubMed PMID:25877834 PubMed Central PMC4608989.
  59. Tzoulis, C, Zayats, T, Knappskog, PM, Müller, B, Larsen, JP, Tysnes, OB, Bindoff, LA, Johansson, S, Haugarvoll, K. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc. Natl. Acad. Sci. U.S.A. 2015;112 (18):E2268. doi: 10.1073/pnas.1503105112. PubMed PMID:25825781 PubMed Central PMC4426452.
  60. Love, NR, Pollak, N, Dölle, C, Niere, M, Chen, Y, Oliveri, P, Amaya, E, Patel, S, Ziegler, M. NAD kinase controls animal NADP biosynthesis and is modulated via evolutionarily divergent calmodulin-dependent mechanisms. Proc. Natl. Acad. Sci. U.S.A. 2015;112 (5):1386-91. doi: 10.1073/pnas.1417290112. PubMed PMID:25605906 PubMed Central PMC4321265.
  61. Madan, V, Kanojia, D, Li, J, Okamoto, R, Sato-Otsubo, A, Kohlmann, A, Sanada, M, Grossmann, V, Sundaresan, J, Shiraishi, Y, Miyano, S, Thol, F, Ganser, A, Yang, H, Haferlach, T, Ogawa, S, Koeffler, HP. Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Nat Commun. 2015;6 :6042. doi: 10.1038/ncomms7042. PubMed PMID:25586593 PubMed Central PMC4349895.
  62. Strauss, V, Margraf, JT, Dolle, C, Butz, B, Nacken, TJ, Walter, J, Bauer, W, Peukert, W, Spiecker, E, Clark, T, Guldi, DM. Carbon nanodots: toward a comprehensive understanding of their photoluminescence. J. Am. Chem. Soc. 2014;136 (49):17308-16. doi: 10.1021/ja510183c. PubMed PMID:25372278 .
  63. Sundal, C, Baker, M, Karrenbauer, V, Gustavsen, M, Bedri, S, Glaser, A, Myhr, KM, Haugarvoll, K, Zetterberg, H, Harbo, H, Kockum, I, Hillert, J, Wszolek, Z, Rademakers, R, Andersen, O. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur. J. Neurol. 2015;22 (2):328-333. doi: 10.1111/ene.12572. PubMed PMID:25311247 PubMed Central PMC4289423.
  64. Sundal, C. Microglia: multiple roles in surveillance, circuit shaping, and response to injury. Neurology. 2014;82 (20):1846. doi: 10.1212/WNL.0000000000000399. PubMed PMID:24843036 .
  65. Tzoulis, C, Tran, GT, Coxhead, J, Bertelsen, B, Lilleng, PK, Balafkan, N, Payne, B, Miletic, H, Chinnery, PF, Bindoff, LA. Molecular pathogenesis of polymerase γ-related neurodegeneration. Ann. Neurol. 2014;76 (1):66-81. doi: 10.1002/ana.24185. PubMed PMID:24841123 PubMed Central PMC4140551.
  66. Skoge, RH, Dölle, C, Ziegler, M. Regulation of SIRT2-dependent α-tubulin deacetylation by cellular NAD levels. DNA Repair (Amst.). 2014;23 :33-8. doi: 10.1016/j.dnarep.2014.04.011. PubMed PMID:24814981 .
  67. Sofou, K, De Coo, IF, Isohanni, P, Ostergaard, E, Naess, K, De Meirleir, L, Tzoulis, C, Uusimaa, J, De Angst, IB, Lönnqvist, T, Pihko, H, Mankinen, K, Bindoff, LA, Tulinius, M, Darin, N. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis. 2014;9 :52. doi: 10.1186/1750-1172-9-52. PubMed PMID:24731534 PubMed Central PMC4021638.
  68. Brakedal, B, Tysnes, OB, Skeie, GO, Larsen, JP, Müller, B. The factor structure of the UPDRS motor scores changes during early Parkinson's disease. Parkinsonism Relat. Disord. 2014;20 (6):617-21. doi: 10.1016/j.parkreldis.2014.03.008. PubMed PMID:24685659 .
  69. Wedding, IM, Koht, J, Tran, GT, Misceo, D, Selmer, KK, Holmgren, A, Frengen, E, Bindoff, L, Tallaksen, CM, Tzoulis, C. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS ONE. 2014;9 (1):e86340. doi: 10.1371/journal.pone.0086340. PubMed PMID:24466038 PubMed Central PMC3899233.
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