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Items: 1 to 50 of 140

1.

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. 2018 Jul 18. doi: 10.1111/bpa.12640. [Epub ahead of print]

PMID:
30021052
2.

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 Jun 19. doi: 10.1111/epi.14459. [Epub ahead of print]

PMID:
29920680
3.

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
4.

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). pii: a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb.

5.

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.

6.

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.

7.

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
8.

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. No abstract available.

PMID:
28952135
9.

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

Hikmat O, Charalampos T, 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. Erratum in: J Inherit Metab Dis. 2017 Sep 26;:.

PMID:
28865037
10.

Understanding the Epilepsy in POLG Related Disease.

Hikmat O, Eichele T, Tzoulis C, Bindoff LA.

Int J Mol Sci. 2017 Aug 24;18(9). pii: E1845. doi: 10.3390/ijms18091845. Review.

11.

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
12.

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.

13.

[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. Review. Norwegian.

14.

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.

15.

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
16.

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.

17.

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
18.

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
19.

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.

20.

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
21.

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.

22.

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T, Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C.

PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. eCollection 2016.

23.

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. No abstract available.

PMID:
26811251
24.

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.

25.

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.

26.

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P.

J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11.

27.

A man in his 50s with high ferritin levels and increasing cognitive impairment.

Bjørk MH, Gjerde IO, Tzoulis C, Ulvik RJ, Bindoff LA.

Tidsskr Nor Laegeforen. 2015 Aug 25;135(15):1369-72. doi: 10.4045/tidsskr.14.1115. eCollection 2015 Aug 25. English, Norwegian. No abstract available.

28.

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B.

Brain. 2015 Oct;138(Pt 10):2948-63. doi: 10.1093/brain/awv224. Epub 2015 Aug 14.

PMID:
26276013
29.

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.

Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K.

Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. No abstract available.

30.

Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension.

White K, Lu Y, Annis S, Hale AE, Chau BN, Dahlman JE, Hemann C, Opotowsky AR, Vargas SO, Rosas I, Perrella MA, Osorio JC, Haley KJ, Graham BB, Kumar R, Saggar R, Saggar R, Wallace WD, Ross DJ, Khan OF, Bader A, Gochuico BR, Matar M, Polach K, Johannessen NM, Prosser HM, Anderson DG, Langer R, Zweier JL, Bindoff LA, Systrom D, Waxman AB, Jin RC, Chan SY.

EMBO Mol Med. 2015 Jun;7(6):695-713. doi: 10.15252/emmm.201404511.

31.

High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).

Bredrup C, Johansson S, Bindoff LA, Sztromwasser P, Kråkenes J, Mellgren AE, Brurås KR, Lind O, Boman H, Knappskog PM, Rødahl E.

Am J Ophthalmol. 2015 May;159(5):973-9.e2. doi: 10.1016/j.ajo.2015.01.021. Epub 2015 Jan 26.

PMID:
25634536
32.

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW.

PLoS Genet. 2014 Jun 5;10(6):e1004424. doi: 10.1371/journal.pgen.1004424. eCollection 2014 Jun.

33.

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Tzoulis C, Tran GT, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA.

Ann Neurol. 2014 Jul;76(1):66-81. doi: 10.1002/ana.24185. Epub 2014 Jun 14.

34.

A multicenter study on Leigh syndrome: disease course and predictors of survival.

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.

Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52.

35.

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA.

J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3.

PMID:
24297365
36.

New treatments for mitochondrial disease-no time to drop our standards.

Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF.

Nat Rev Neurol. 2013 Aug;9(8):474-81. doi: 10.1038/nrneurol.2013.129. Epub 2013 Jul 2. Review.

37.

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA.

PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013.

38.

Progressive striatal necrosis associated with anti-NMDA receptor antibodies.

Tzoulis C, Vedeler C, Haugen M, Storstein A, Tran GT, Gjerde IO, Biermann M, Schwarzlmüller T, Bindoff LA.

BMC Neurol. 2013 May 31;13:55. doi: 10.1186/1471-2377-13-55.

39.

EFNS review on the role of muscle biopsy in the investigation of myalgia.

Kyriakides T, Angelini C, Schaefer J, Mongini T, Siciliano G, Sacconi S, Joseph J, Burgunder JM, Bindoff LA, Vissing J, de Visser M, Hilton-Jones D.

Eur J Neurol. 2013 Jul;20(7):997-1005. doi: 10.1111/ene.12174. Epub 2013 Apr 30. Review.

PMID:
23627674
40.

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Tzoulis C, Tran GT, Schwarzlmüller T, Specht K, Haugarvoll K, Balafkan N, Lilleng PK, Miletic H, Biermann M, Bindoff LA.

Brain. 2013 Aug;136(Pt 8):2393-404. doi: 10.1093/brain/awt103. Epub 2013 Apr 26.

PMID:
23625061
41.

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.

Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12.

PMID:
23606453
42.

Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.

Ramm-Pettersen A, Nakken KO, Skogseid IM, Randby H, Skei EB, Bindoff LA, Selmer KK.

Dev Med Child Neurol. 2013 May;55(5):440-7. doi: 10.1111/dmcn.12096. Epub 2013 Mar 1.

43.

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Haugarvoll K, Johansson S, Tzoulis C, Haukanes BI, Bredrup C, Neckelmann G, Boman H, Knappskog PM, Bindoff LA.

Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1.

44.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

45.

MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations.

Sanaker PS, Bindoff LA.

Hum Mutat. 2013 Feb;34(2):292-5. doi: 10.1002/humu.22238. Epub 2013 Jan 4.

PMID:
23065728
46.

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.

Tzoulis C, Bindoff LA.

Brain. 2012 Dec;135(Pt 12):3627-34. doi: 10.1093/brain/aws223. Epub 2012 Oct 12.

PMID:
23065482
47.

Mitochondrial diseases and epilepsy.

Bindoff LA, Engelsen BA.

Epilepsia. 2012 Sep;53 Suppl 4:92-7. doi: 10.1111/j.1528-1167.2012.03618.x. Review.

48.

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.

Balafkan N, Tzoulis C, Müller B, Haugarvoll K, Tysnes OB, Larsen JP, Bindoff LA.

Mitochondrion. 2012 Nov;12(6):640-3. doi: 10.1016/j.mito.2012.08.004. Epub 2012 Aug 29.

PMID:
22963882
49.

Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis.

Sanaker PS, Toompuu M, McClorey G, Bindoff LA.

Gene. 2012 Feb 25;494(2):231-6. doi: 10.1016/j.gene.2011.11.021. Epub 2011 Dec 1.

PMID:
22155317
50.

Focal myositis--neurogenic phenomenon?

Lunde HM, Skeie GO, Bertelsen AK, Karlsen B, Miletic H, Lindal S, Brautaset NJ, Bindoff LA.

Neuromuscul Disord. 2012 Apr;22(4):350-4. doi: 10.1016/j.nmd.2011.10.023. Epub 2011 Dec 9.

PMID:
22153989

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