Publications

Publication list for the last five years:

2022:

POLG mutations lead to abnormal mitochondrial remodeling during neural differentiation of human pluripotent stem cells via SIRT3/AMPK pathway inhibition.

Chen A, Kristiansen CK, Høyland LE, Ziegler M, Wang J, Sullivan GJ, Li X, Bindoff LA, Liang KX.Cell Cycle. 2022 Mar 17:1-16. doi: 10.1080/15384101.2022.2044136. Online ahead of print.PMID: 35298342

2021:

N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation.

Liang KX, Vatne GH, Kristiansen CK, Ievglevskyi O, Kondratskaya E, Glover JC, Chen A, Sullivan GJ, Bindoff LA. Exp Neurol. 2021 Mar;337:113536. doi: 10.1016/j.expneurol.2020.113536. Epub 2020 Nov 29.PMID: 33264635

Nicotinamide Riboside and Metformin Ameliorate Mitophagy Defect in Induced Pluripotent Stem Cell-Derived Astrocytes With POLG Mutations.

Chen A, Kristiansen CK, Hong Y, Kianian A, Fang EF, Sullivan GJ, Wang J, Li X, Bindoff LA, Liang KX.Front Cell Dev Biol. 2021 Sep 24;9:737304. doi: 10.3389/fcell.2021.737304. eCollection 2021.PMID: 34631714

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N.J Med Genet. 2021 Dec 6:jmedgenet-2021-108006. doi: 10.1136/jmedgenet-2021-108006. Online ahead of print.PMID: 34872991

Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.

Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S. Ann Clin Transl Neurol. 2021 Nov;8(11):2155-2165. doi: 10.1002/acn3.51470. Epub 2021 Oct 18.PMID: 34662929 

Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model.

Mostafavi S, Balafkan N, Pettersen IKN, Nido GS, Siller R, Tzoulis C, Sullivan GJ, Bindoff LA.Front Cell Dev Biol. 2021 Oct 14;9:744777. doi: 10.3389/fcell.2021.744777. eCollection 2021.PMID: 34722525 

Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives.

Liang KX, Chen A, Kristiansen CK, Bindoff LA.J Vis Exp. 2021 Nov 8;(177). doi: 10.3791/63116. PMID: 34806709

Serum biomarkers in primary mitochondrial disorders.

Varhaug KN, Hikmat O, Nakkestad HL, Vedeler CA, Bindoff LA.Brain Commun. 2021 Jan 4;3(1):fcaa222. doi: 10.1093/braincomms/fcaa222. eCollection 2021.PMID: 33501425 

In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.

Hytönen MK, Sarviaho R, Jackson CB, Syrjä P, Jokinen T, Matiasek K, Rosati M, Dallabona C, Baruffini E, Quintero I, Arumilli M, Monteuuis G, Donner J, Anttila M, Suomalainen A, Bindoff LA, Lohi H.Hum Genet. 2021 Nov;140(11):1593-1609. doi: 10.1007/s00439-021-02279-y. Epub 2021 Apr 9.PMID: 33835239

A characteristic occipital epileptiform EEG pattern in ADCK3-related mitochondrial disease.

Arntsen V, Sand T, Hikmat O, Samsonsen C, Bindoff LA,

Mitochondrial disease in adults: recent advances and future promise.

Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM.Lancet Neurol. 2021. E.Epileptic Disord. 2021 Apr 1;23(2):281-290. doi: 10.1684/epd.2021.1269.PMID: 33881396

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.

Brunetti D, Catania A, Viscomi C, Deleidi M, Bindoff LA, Ghezzi D, Zeviani M.Biomedicines. 2021 Jul 17;9(7):833. doi: 10.3390/biomedicines9070833.PMID: 34356897

2020:

N-acetylcysteine amide ameliorates mitochondrial dysfunction and reduces oxidative stress in hiPSC-derived dopaminergic neurons with POLG mutation.

Liang KX, Vatne GH, Kristiansen CK, Ievglevskyi O, Kondratskaya E, Glover JC, Chen A, Sullivan GJ, Bindoff LA.Exp Neurol. 2021 Mar;337:113536. doi: 10.1016/j.expneurol.2020.113536. Epub 2020 Nov 29. PMID: 33264635

Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC.J Inherit Metab Dis. 2021 Jan;44(1):6-7. doi: 10.1002/jimd.12329. Epub 2020 Nov 18.PMID: 33159463 

A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96-well microplates.

Balafkan N, Mostafavi S, Schubert M, Siller R, Liang KX, Sullivan G, Bindoff LA.Sci Rep. 2020 Oct 28;10(1):18498. doi: 10.1038/s41598-020-73656-2.PMID: 33116175 

Mental health and health related quality of life in mitochondrial POLG disease.

Hikmat O, Vederhus BJ, Benestad MR, Engeset IME, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Elgen IB, Bindoff LA.Mitochondrion. 2020 Nov;55:95-99. doi: 10.1016/j.mito.2020.09.005. Epub 2020 Sep 23.PMID: 32976988 

The impact of gender, puberty, and pregnancy in patients with POLG disease.

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Samsonsen C, Brodtkorb E, Ostergaard E, de Coo R, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA.Ann Clin Transl Neurol. 2020 Oct;7(10):2019-2025. doi: 10.1002/acn3.51199. Epub 2020 Sep 18.PMID: 32949115 

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Lehtonen JM, Auranen M, Darin N, Sofou K, Bindoff L, Hikmat O, Uusimaa J, Vieira P, Tulinius M, Lönnqvist T, de Coo IF, Suomalainen A, Isohanni P.J Inherit Metab Dis. 2020 Aug 28. doi: 10.1002/jimd.12307. Online ahead of print.PMID: 32857451

Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.

Liang KX, Kristiansen CK, Mostafavi S, Vatne GH, Zantingh GA, Kianian A, Tzoulis C, Høyland LE, Ziegler M, Perez RM, Furriol J, Zhang Z, Balafkan N, Hong Y, Siller R, Sullivan GJ, Bindoff LA.EMBO Mol Med. 2020 Oct 7;12(10):e12146. doi: 10.15252/emmm.202012146. Epub 2020 Aug 25.PMID: 32840960 

Using urine to diagnose large-scale mtDNA deletions in adult patients.

Varhaug KN, Nido GS, de Coo I, Isohanni P, Suomalainen A, Tzoulis C, Knappskog P, Bindoff LA.Ann Clin Transl Neurol. 2020 Aug;7(8):1318-1326. doi: 10.1002/acn3.51119. Epub 2020 Jul 7.PMID: 32634300 

Natural Variation of Vitamin D and Neurofilament Light Chain in Relapsing-Remitting Multiple Sclerosis.

Røsjø E, Lindstrøm JC, Holmøy T, Myhr KM, Varhaug KN, Torkildsen Ø.Front Neurol. 2020 Apr 30;11:329. doi: 10.3389/fneur.2020.00329. eCollection 2020.PMID: 32425877 

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA.J Inherit Metab Dis. 2020 Jul;43(4):726-736. doi: 10.1002/jimd.12211. Epub 2020 Jan 23.PMID: 32391929

Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.

Murphy LB, Schreiber-Katz O, Rafferty K, Robertson A, Topf A, Willis TA, Heidemann M, Thiele S, Bindoff L, Laurent JP, Lochmüller H, Mathews K, Mitchell C, Stevenson JH, Vissing J, Woods L, Walter MC, Straub V.Ann Clin Transl Neurol. 2020 May;7(5):757-766. doi: 10.1002/acn3.51042. Epub 2020 Apr 28.PMID: 32342672 

A hospital based epidemiological study of genetically determined muscle disease in south western Norway.

Husebye SA, Rebne CB, Stokland AE, Sanaker PS, Bindoff LA.Neuromuscul Disord. 2020 Mar;30(3):181-185. doi: 10.1016/j.nmd.2020.01.006. Epub 2020 Feb 4.PMID: 32146000 

Consensus-based statements for the management of mitochondrial stroke-like episodes.

Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM.Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019.PMID: 32090171 

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus.

De Vries MC, Brown DA, Allen ME, Bindoff L, Gorman GS, Karaa A, Keshavan N, Lamperti C, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Varhaug KN, Schirris TJJ, Mancuso M.J Inherit Metab Dis. 2020 Jul;43(4):800-818. doi: 10.1002/jimd.12196. Epub 2020 Feb 7.PMID: 32030781 

[Polymerase gamma-related mitochondrial disorder].

Hikmat O, Varhaug KN, Bindoff LA.Tidsskr Nor Laegeforen. 2020 Jan 13;140(1). doi: 10.4045/tidsskr.19.0368. Print 2020 Jan 14.PMID: 31948198 

Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease.

Liang X, Kristiansen CK, Vatne GH, Hong Y, Bindoff LA.Cell Tissue Res. 2020 Apr;380(1):15-30. doi: 10.1007/s00441-019-03164-x. Epub 2020 Jan 10.PMID: 31925525 Review.

2019:

No effect of electrical transcranial direct current stimulation adjunct treatment for epilepsia partialis continua in POLG disease.

Marquardt L, Eichele T, Bindoff LA, Olberg HK, Veiby G, Eichele H, Kusztrits I, Hirnstein M.Epilepsy Behav Rep. 2019 Oct 25;12:100339. doi: 10.1016/j.ebr.2019.100339. eCollection 2019.PMID: 31737865 

Mitochondrial complex IV is lost in neurons in the cuprizone mouse model.

Varhaug KN, Kråkenes T, Alme MN, Vedeler CA, Bindoff LA.Mitochondrion. 2020 Jan;50:58-62. doi: 10.1016/j.mito.2019.09.003. Epub 2019 Oct 31.PMID: 31678601

Fever-related ataxia: a case report of CAPOS syndrome.

Stenshorne I, Rasmussen M, Salvanos P, Tallaksen CME, Bindoff LA, Koht J.Cerebellum Ataxias. 2019 Feb 8;6:2. doi: 10.1186/s40673-019-0096-3. eCollection 2019.PMID: 31410291 

Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts.

Zhang Z, Gao Z, Rajthala S, Sapkota D, Dongre H, Parajuli H, Suliman S, Das R, Li L, Bindoff LA, Costea DE, Liang X. Cell Mol Life Sci. 2020 Mar;77(6):1115-1133. doi: 10.1007/s00018-019-03209-y. Epub 2019 Jul 3.PMID: 31270582

Neurofilament Light Chain as a Biomarker in Multiple Sclerosis.

Varhaug KN, Torkildsen Ø, Myhr KM, Vedeler CA.Front Neurol. 2019 Apr 5;10:338. doi: 10.3389/fneur.2019.00338. eCollection 2019.PMID: 31024432 

Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway.

Zhang Z, Liang X, Fan Y, Gao Z, Bindoff LA, Costea DE, Li L.Cell Cycle. 2019 May;18(9):949-962. doi: 10.1080/15384101.2019.1598727. Epub 2019 Apr 23.PMID: 31014173 

Mitochondrial DNA depletion in sporadic inclusion body myositis.

Bhatt PS, Tzoulis C, Balafkan N, Miletic H, Tran GTT, Sanaker PS, Bindoff LA.Neuromuscul Disord. 2019 Mar;29(3):242-246. doi: 10.1016/j.nmd.2019.02.001. Epub 2019 Feb 10.PMID: 30850168 

2018:

The doctors' role in cases of suspected child abuse.

Stray-Pedersen A, Møller C, de Lange C, Due-Tønnessen BJ, Grøgaard JB, Haugen OH, Hikmat O, Mahesparan R, Müller LO, Myhre AK, Myhre MC, Nedregaard B, Nordhov SM, Rognum TO, Rosendahl K, Sørbø T, Vollmer-Sandholm MJ, Aukland SM.Tidsskr Nor Laegeforen. 2018 Dec 21;138(2). doi: 10.4045/tidsskr.18.0922. Print 2019 Jan 29.PMID: 30698400 

Felles løft for pasienter med nevromuskulære sykdommer.

Jensen SM, Arntzen KA, Ørstavik K, Rasmussen M, Bindoff LA.Tidsskr Nor Laegeforen. 2018 Sep 26;138(15). doi: 10.4045/tidsskr.18.0630. Print 2018 Oct 2.PMID: 30277043 

Økt behov for fysioterapeuter med nevromuskulær kompetanse.

Ørstavik K, Rasmussen M, Arntzen KA, Bindoff LA.Tidsskr Nor Laegeforen. 2018 Sep 17;138(14). doi: 10.4045/tidsskr.18.0580. Print 2018 Sep 18.PMID: 30234257 

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

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.Genet Med. 2019 Apr;21(4):1027. doi: 10.1038/s41436-018-0098-1.PMID: 30228318

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ.Brain Pathol. 2019 Jan;29(1):97-113. doi: 10.1111/bpa.12640. Epub 2018 Oct 9.PMID: 30021052 

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.

Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA.Epilepsia. 2018 Aug;59(8):1595-1602. doi: 10.1111/epi.14459. Epub 2018 Jun 19.PMID: 29920680

Mitochondrial ataxias.

Vernon HJ, Bindoff LA.Handb Clin Neurol. 2018;155:129-141. doi: 10.1016/B978-0-444-64189-2.00009-3.PMID: 29891055 Review.

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Berland S, Toft-Bertelsen TL, Aukrust I, Byska J, Vaudel M, Bindoff LA, MacAulay N, Houge G.Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb.PMID: 29437797 

Future of Neurologic Examination in Clinical Practice.

Bindoff L.JAMA Neurol. 2018 Mar 1;75(3):382. doi: 10.1001/jamaneurol.2017.4995.PMID: 29435561 No abstract available.

3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis.

Dölle C, Bindoff LA, Tzoulis C.Sci Rep. 2018 Jan 19;8(1):1272. doi: 10.1038/s41598-018-19745-9.PMID: 29352159 

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage.

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.Acta Neuropathol. 2018 Mar;135(3):409-425. doi: 10.1007/s00401-017-1794-7. Epub 2017 Dec 21.PMID: 29270838

2017:

Neurofilament light chain predicts disease activity in relapsing-remitting MS.

Varhaug KN, Barro C, Bjørnevik K, Myhr KM, Torkildsen Ø, Wergeland S, Bindoff LA, Kuhle J, Vedeler C.Neurol Neuroimmunol Neuroinflamm. 2017 Nov 28;5(1):e422. doi: 10.1212/NXI.0000000000000422. eCollection 2018 Jan.PMID: 29209636 

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.PMID: 29205472 

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.

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.J Med Genet. 2018 Jan;55(1):21-27. doi: 10.1136/jmedgenet-2017-104891. Epub 2017 Nov 3.PMID: 29101127

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA.J Inherit Metab Dis. 2018 Jan;41(1):153. doi: 10.1007/s10545-017-0092-9.PMID: 28952135 No abstract available.

The presence of anaemia negatively influences survival in patients with POLG disease.

Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA.J Inherit Metab Dis. 2017 Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1.PMID: 28865037

Understanding the Epilepsy in POLG Related Disease.

Hikmat O, Eichele T, Tzoulis C, Bindoff LA.Int J Mol Sci. 2017 Aug 24;18(9):1845. doi: 10.3390/ijms18091845.PMID: 

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

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.Genet Med. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr

27.PMID: 28471437 

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.JAMA Neurol. 2017 Jun 1;74(6):686-694. doi:

10.1001/jamaneurol.2016.4357.PMID: 28395030 

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

[Multiple sclerosis - a mitochondria-mediated disease?].

Varhaug KN, Vedeler CA, Tzoulis C, Bindoff LA.Tidsskr Nor Laegeforen. 2017 Feb 21;137(4):284-287. doi: 10.4045/tidsskr.16.0210. eCollection 2017 Feb.PMID: 28225235 

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

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.PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017.PMID: 28052128 

Simvastatin is associated with decreased risk of Parkinson disease.

Brakedal B, Haugarvoll K, Tzoulis C.Ann Neurol. 2017 Feb;81(2):329-330. doi: 10.1002/ana.24857.PMID: 28019662 No abstract available.

2016:

Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis.

Varhaug KN, Vedeler CA, Myhr KM, Aarseth JH, Tzoulis C, Bindoff LA.Mitochondrion. 2017 May;34:32-35. doi: 10.1016/j.mito.2016.12.003. Epub 2016 Dec 23.PMID: 28017684

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease.

Dölle C, Flønes I, Nido GS, Miletic H, Osuagwu N, Kristoffersen S, Lilleng PK, Larsen JP, Tysnes OB, Haugarvoll K, Bindoff LA, Tzoulis C.Nat Commun. 2016 Nov 22;7:13548. doi: 10.1038/ncomms13548.PMID: 27874000 

No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy.

Tzoulis C, Henriksen E, Miletic H, Bindoff LA.Mitochondrion. 2017 Jan;32:10-15. doi: 10.1016/j.mito.2016.11.004. Epub 2016 Nov 10.PMID: 27838477

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.PMID: 27259757

PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.

Tzoulis C, Sztromwasser P, Johansson S, Gjerde IO, Knappskog P, Bindoff LA.Cerebellum. 2017 Feb;16(1):272-275. doi: 10.1007/s12311-016-0784-y.PMID: 27165045 

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA.Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23.PMID: 27106809

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.

Tzoulis C, Schwarzlmüller T, Biermann M, Haugarvoll K, Bindoff LA.Mitochondrion. 2016 May;28:33-7. doi: 10.1016/j.mito.2016.03.003. Epub 2016 Mar 12.PMID: 26979109 

Nigrostriatal denervation sine parkinsonism.

Haugarvoll K, Bindoff LA, Tzoulis C.Brain. 2016 Apr;139(Pt 4):e25. doi: 10.1093/brain/awv410. Epub 2016 Jan 25.PMID: 26811251 No abstract available.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.

Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SC, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJ, Horvath R, Chinnery PF.Hum Mol Genet. 2016 Mar 1;25(5):1031-41. doi: 10.1093/hmg/ddv626. Epub 2016 Jan 5.PMID: 26740552 

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Brunetti D, Torsvik J, Dallabona C, Teixeira P, Sztromwasser P, Fernandez-Vizarra E, Cerutti R, Reyes A, Preziuso C, D'Amati G, Baruffini E, Goffrini P, Viscomi C, Ferrero I, Boman H, Telstad W, Johansson S, Glaser E, Knappskog PM, Zeviani M, Bindoff LA.EMBO Mol Med. 2016 Mar 1;8(3):176-90. doi: 10.15252/emmm.201505894.PMID: 26697887 

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