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  • E-mailLaurence.Bindoff@uib.no
  • Phone+47 55 97 50 96+47 976 63 814
  • Visitor Address
    Department of Neurology
    Haukeland University Hospital
    5021 Bergen
  • Postal Address
    Postboks 7804
    5020 Bergen
Journal articles
  • Bhatt, Padmanabh S.; Tzoulis, Charalampos; Balafkan, Novin; Miletic, Hrvoje; Tran, Gia Tuong Thi; Sanaker, Petter Schandl; Bindoff, Laurence. 2019. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular Disorders. 29: 242-246. doi: 10.1016/j.nmd.2019.02.001
  • Zhang, Zhuoyuan; Liang, Xiao; Fan, Yaping; Gao, Zhenjie; Bindoff, Laurence; Costea, Daniela Elena; Li, Longjiang. 2019. Fibroblasts rescue oral squamous cancer cell from metformin-induced apoptosis via alleviating metabolic disbalance and inhibiting AMPK pathway. Cell Cycle. 18: 949-962. doi: 10.1080/15384101.2019.1598727
  • Berland, Siren; Toft-Bertelsen, Trine; Aukrust, Ingvild; Byska, Jan; Vaudel, Marc; Bindoff, Laurence; MacAulay, Nanna; Houge, Gunnar. 2018. 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. Molecular Case Studies. 4.
  • Bindoff, Laurence. 2018. Future of neurologic examination in clinical practice. JAMA Neurology. 75: 382-382. doi: 10.1001/jamaneurol.2017.4995
  • Dölle, Christian; Bindoff, Laurence; Tzoulis, Charalampos. 2018. 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific Reports. 8:1272: 1-8. doi: 10.1038/s41598-018-19745-9
  • Hayhurst, Hannah; Anagnostou, Maria-Eleni; Bogle, Helen J.; Grady, John P.; Taylor, Robert W.; Bindoff, Laurence; McFarland, Robert; Turnbull, Douglass Matthew; Lax, Nichola Z. 2018. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain Pathology. 1-17. doi: 10.1111/bpa.12640
  • Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence. 2018. Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia. 59: 1595-1602. doi: 10.1111/epi.14459
  • Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K.; Chentouf, Latifa; Klingenberg, Claus; Fratter, Carl; Carr, Lucinda J.; Prabhakar, Prab; Kumaraguru, Nandhini; Gissen, Paul; Cross, J. Helen; Jacques, Thomas S.; Taanman, Jan-Willem; Bindoff, Laurence; Rahman, Shamima. 2018. Correction to: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (Genetics in Medicine, (2017), 19, 11, (1217-1225), 10.1038/gim.2017.35). Genetics in Medicine. 1-1. doi: 10.1038/s41436-018-0098-1
  • Jensen, Synnøve; Arntzen, Kjell Arne; Ørstavik, Kristin; Rasmussen, Magnhild; Bindoff, Laurence. 2018. Felles løft for pasienter med nevromuskulære sykdommer. Tidsskrift for Den norske legeforening. 138: 1408-1409. doi: 10.4045/tidsskr.18.0630
  • Sofou, Kalliopi; De Coo, Irenaeus F.M.; Østergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence; Tulinius, Már; Darin, Niklas. 2018. Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. Journal of Medical Genetics. 55: 21-27. doi: 10.1136/jmedgenet-2017-104891
  • Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence. 2017. GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLoS ONE. 12:e0169309: 1-10. doi: 10.1371/journal.pone.0169309
  • Hikmat, Omar; Eichele, Tom; Tzoulis, Charalampos; Bindoff, Laurence. 2017. Understanding the epilepsy in POLG related disease. International Journal of Molecular Sciences. 18:1845: 1-8. doi: 10.3390/ijms18091845
  • Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K.; Chentouf, Latifa; Klingenberg, Claus; Fratter, Carl; Carr, Lucinda J.; Prabhakar, Prab; Kumaraguru, Nandhini; Gissen, Paul; Cross, J. Helen; Jacques, Thomas S.; Taanman, Jan-Willem; Bindoff, Laurence; Rahman, Shamima. 2017. The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in Medicine. 19: 1217-1225. doi: 10.1038/gim.2017.35
  • Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence. 2017. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease (Journal of Inherited Metabolic Disease, (2017), 40, 6, (861-866), 10.1007/s10545-017-0084-9). Journal of Inherited Metabolic Disease. 41: 153-153. Published 2017-09-26. doi: 10.1007/s10545-017-0092-9
  • Hikmat, Omar; Tzoulis, Charalampos; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; McFarland, Robert; Rahman, Shamima; Bindoff, Laurence. 2017. The presence of anaemia negatively influences survival in patients with POLG disease. Journal of Inherited Metabolic Disease. 40: 861-866. doi: 10.1007/s10545-017-0084-9
  • Sommerville, Ewen W.; Ng, Yi Shiau; Alston, Charlotte L.; Dallabona, Cristina; Gilberti, Micol; He, Langping; Knowles, Charlotte; Chin, Sophie L.; Schaefer, Andrew M.; Falkous, Gavin; Murdoch, David; Longman, Cheryl; De Visser, Marianne; Bindoff, Laurence; Rawles, John M.; Dean, John C.S.; Petty, Richard K.; Farrugia, Maria E.; Haack, Tobias B.; Prokisch, Holger; McFarland, Robert; Turnbull, Douglass M.; Donnini, Claudia; Taylor, Robert W.; Gorman, Gráinne S. 2017. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology. 74: 686-694. doi: 10.1001/jamaneurol.2016.4357
  • Tzoulis, Charalampos; Henriksen, Eilen Holm; Miletic, Hrvoje; Bindoff, Laurence. 2017. No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion (Amsterdam. Print). 32: 10-15. doi: 10.1016/j.mito.2016.11.004
  • Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence. 2017. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum. 16: 272-275. doi: 10.1007/s12311-016-0784-y
  • Varhaug, Kristin Nielsen; Barro, Christian; Bjørnevik, Kjetil Lauvland; Myhr, Kjell-Morten; Torkildsen, Øivind; Wergeland, Stig; Bindoff, Laurence; Kuhle, Jens; Vedeler, Christian A. 2017. Neurofilament light chain predicts disease activity in relapsing-remitting MS. Neurology: Neuroimmunology and neuroinflammation. 5:e422: 1-8. doi: 10.1212/NXI.0000000000000422
  • Varhaug, Kristin; Vedeler, Christian A.; Tzoulis, Charalampos; Bindoff, Laurence. 2017. Multippel sklerose - en mitokondriemediert sykdom? Tidsskrift for Den norske legeforening. 137: 274-287. doi: 10.4045/tidsskr.16.0210
  • Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel Szymon; Fernandez-Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D'Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per; Zeviani, Massimo; Bindoff, Laurence. 2016. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine. 8: 176-190. doi: 10.15252/emmm.201505894
  • Dölle, Christian; Flønes, Irene Hana; Sanchez Nido, Gonzalo; Miletic, Hrvoje; Osuagwu, Nelson; Kristoffersen, Stine; Lilleng, Peer Kåre; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos. 2016. Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nature Communications. 7:13548. 11 pages. doi: 10.1038/ncomms13548
  • Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer; Dölle, Christian; Lykouri, Maria; Schwarzlmüller, Thomas; Jonassen, Inge; Miletic, Hrvoje; Johansson, Stefan; Knappskog, Per; Bindoff, Laurence; Tzoulis, Charalampos. 2016. Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLoS ONE. 11. doi: 10.1371/journal.pone.0149055
  • Haugarvoll, Kristoffer; Bindoff, Laurence; Tzoulis, Charalampos. 2016. Nigrostriatal denervation sine parkinsonism. Brain. 139. doi: 10.1093/brain/awv410
  • Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence. 2016. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? European Journal of Neurology. 23: 1188-1194. doi: 10.1111/ene.13003
  • Spiegel, Ronen; Saada, Ann; Flannery, Padraig J.; Burte, Florence; Soiferman, Devorah; Khayat, Morad; Eisner, Verónica; Vladovski, Eugene; Taylor, Robert W.; Bindoff, Laurence; Shaag, Avraham; Mandel, Hanna; Schuler-Furman, Ora; Shalev, Stavit A.; Elpeleg, Orly; Yu-Wai-Man, Patrick. 2016. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of Medical Genetics. 53: 127-131. doi: 10.1136/jmedgenet-2015-103361
  • Tzoulis, Charalampos; Schwarzlmüller, Thomas; Biermann, Martin; Haugarvoll, Kristoffer; Bindoff, Laurence. 2016. Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion (Amsterdam. Print). 28: 33-37. doi: 10.1016/j.mito.2016.03.003
  • Varhaug, Kristin; Vedeler, Christian A.; Myhr, Kjell-Morten; Aarseth, Jan Harald; Tzoulis, Charalampos; Bindoff, Laurence. 2016. Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion (Amsterdam. Print). 34: 32-35. doi: 10.1016/j.mito.2016.12.003
  • Vissing, John; Barresi, Rita; Witting, Nanna; Van Ghelue, Marijke; Gammelgaard, Lise; Bindoff, Laurence; Straub, Volker; Lochmüller, Hanns; Hudson, Judith; Wahl, Christoph Michael; Arnardóttir, Snjolaug; Dahlbom, Kathe; Jonsrud, Christoffer; Duno, Morten. 2016. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain. 139: 2154-2163. doi: 10.1093/brain/aww133
  • Wilson, Ian J.; Carling, Phillipa J.; Alston, Charlotte L.; Floros, Vasileios I.; Pyle, Angela; Hudson, Gavin; Sallevelt, Suzanne C.E.H.; Lamperti, Constanza; Carelli, Valerio; Bindoff, Laurence; Samuels, David C.; Wonnapinij, Passorn; Zeviani, Massimo; Taylor, Robert W.; Smeets, Hubert J.M.; Horvath, Rita; Chinnery, Patrick F. 2016. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human Molecular Genetics. 25: 1031-1041. doi: 10.1093/hmg/ddv626
  • Bjørk, Marte Helene; Gjerde, Ivar Otto; Tzoulis, Charalampos; Ulvik, Rune Johan; Bindoff, Laurence. 2015. En mann i 50-årene med høyt ferritinnivå og økende kognitiv svikt. Tidsskrift for Den norske legeforening. 135: 1369-1372.
  • Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence; Sztromwasser, Pawel Szymon; Kråkenes, Jostein; Christensen, Anne Elisabeth; Brurås, Kari Røine; Lind, Ola; Boman, Helge; Knappskog, Per; Rødahl, Eyvind. 2015. High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology. 159: 973-979. doi: 10.1016/j.ajo.2015.01.021
  • Korner, Germaine; Noain, Daniela; Ying, Ming; Hole, Magnus; Flydal, Marte Innselset; Scherer, Tanja; Allegri, Gabriella; Rassi, Anahita; Fingerhut, Ralph; Becu-Villalobos, Damasia; Pillai, Samyuktha; Wueest, Stephan; Konrad, Daniel; Lauber-Biason, Anna; Baumann, Christian R.; Bindoff, Laurence; Martinez, Aurora; Thöny, Beat. 2015. Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. Brain. 138: 2948-2963. doi: 10.1093/brain/awv224
  • Tzoulis, Charalompos; Zayats, Tetyana; Knappskog, Per; Müller, Bernd; Larsen, Jan Petter; Tysnes, Ole-Bjørn; Bindoff, Laurence; Johansson, Stefan; Haugarvoll, Kristoffer. 2015. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proceedings of the National Academy of Sciences of the United States of America. 18:E2268. doi: 10.1073/pnas.1503105112
  • White, Kevin; Lu, Yu; Annis, Sofia; Hale, Andrew E.; Chau, B. Nelson; Dahlman, James E.; Hemann, Craig; Opotowsky, Alexander R.; Vargas, Sara O.; Rosas, Ivan; Perrella, Mark A.; Osorio, Juan C.; Haley, Kathleen J.; Graham, Brian B.; Kumar, Rahul; Saggar, Rajan; Saggar, Rajeev; Wallace, W. Dean; Ross, David J.; Khan, Omar F.; Bader, Andrew; Gochuico, Bernadette R.; Matar, Majed; Polach, Kevin; Johannessen, Nicolai; Prosser, Haydn M.; Anderson, Daniel G.; Langer, Robert; Zweier, Jay L.; Bindoff, Laurence; Systrom, David; Waxman, Aaron B.; Jin, Richard C.; Chan, Stephen Y. 2015. Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension. EMBO Molecular Medicine. 7: 695-713. doi: 10.15252/emmm.201404511
  • Haugarvoll, Kristoffer; Tzoulis, Charalampos; Tran, Gia Tuong Thi; Karlsen, Bjørn; Engelsen, Bernt; Knappskog, Per; Bindoff, Laurence. 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. Journal of Neurology. 261: 358-362. doi: 10.1007/s00415-013-7203-9
  • Sofou, Kalliopi; De Coo, Irenaeus F.M.; Isohanni, Pirjo; Ostergaard, Elsebet; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; De Angst, Isabell B.; Lönnqvist, Tuula; Pihko, Helena; Mankinen, Katariina; Bindoff, Laurence; Tulinius, Már; Darin, Niklas. 2014. A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet Journal of Rare Diseases. 9. doi: 10.1186/1750-1172-9-52
  • Tzoulis, Charalampos; Tran, Gia Tuong Thi; Coxhead, Jonathan; Bertelsen, Bjørn; Lilleng, Peer Kåre; Balafkan, Novin; Payne, Brendan; Miletic, Hrvoje; Chinnery, Patrick F.; Bindoff, Laurence. 2014. Molecular pathogenesis of polymerase gamma-related neurodegeneration. Annals of Neurology. 76: 66-81. doi: 10.1002/ana.24185
  • Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal; Tzoulis, Charalampos. 2014. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS ONE. 9. doi: 10.1371/journal.pone.0086340
  • Yarham, John W.; Lamichhane, Tek N.; Pyle, Angela; Mattijssen, Sandy; Baruffini, Enrico; Bruni, Francesco; Donnini, Claudia; Vassilev, Alex; He, Langping; Blakely, Emma L.; Griffin, Helen; Santibanez-Koref, Mauro; Bindoff, Laurence; Ferrero, Iliana; Chinnery, Patrick F.; McFarland, Robert; Maraia, Richard J.; Taylor, Robert W. 2014. Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA. PLoS Genetics. 10. doi: 10.1371/journal.pgen.1004424
  • Brady, Stefen; Mack, Julie; Bindoff, Laurence; Hilton-Jones, David; Miletic, Hrvoje; Squier, Waney. 2013. Mast cell upregulation in inclusion body myositis: a role for neurogenic inflammation? Neuropathology and Applied Neurobiology. 39: 26-26.
  • Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases. 8. 10 pages. doi: 10.1186/1750-1172-8-1
  • Kyriakides, Theodoros; Angelini, Corrado; Schaefer, Jochen; Mongini, Tiziana; Siciliano, Gabriele; Sacconi, Sabrina; Joseph, Joseph; Burgunder, Jean-Marc; Bindoff, Laurence; Vissing, John; de Visser, Marianne; Hilton-Jones, David. 2013. EFNS review on the role of muscle biopsy in the investigation of myalgia. European Journal of Neurology. 20: 997-1005. doi: 10.1111/ene.12174
  • Pfeffer, Gerald; Horvath, Rita; Klopstock, Thomas; Mootha, Vamsi K.; Suomalainen, Anu; Koene, Saskia; Hirano, Michio; Zeviani, Michio; Bindoff, Laurence; Yu-Wai-Man, Patrick; Hanna, Michael; Carelli, Valerio; McFarland, Robert; Majamaa, Kari; Turnbull, Douglas M.; Smeitink, Jan A.; Chinnery, Patrick F. 2013. New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews Neurology. 9: 474-481. doi: 10.1038/nrneurol.2013.129
  • Ramm-Pettersen, Anette; Nakken, Karl Otto; Skogseid, Inger Marie; Randby, Hans; Skei, Erik Borge; Bindoff, Laurence; Selmer, Kaja Kristine. 2013. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study. Developmental Medicine & Child Neurology. 55: 440-447. doi: 10.1111/dmcn.12096
  • Sanaker, Petter Schandl; Bindoff, Laurence. 2013. MT-ND5 mutation causing exercise intolerance displays intercellular heteroplasmy and rapid shifts between generations. Human Mutation. 34: 292-295. doi: 10.1002/humu.22238
  • Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H; Barresi, Rita; Hilton-Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C; Krause, Sabine; van den Bergh, Peter; Illa, Isabel; Penisson-Besnier, Isabelle; De Waele, Liesbeth; Turnbull, Douglas; Guglieri, Michela; Schrank, Bertold; Schoser, Benedikt; Seeger, Juergen; Schreiber, Herbert; Glaeser, Dieter; Eagle, Michelle; Bailey, Geraldine; Walters, Richard; Longman, Cheryl; Norwood, Fiona; Winer, John; Muntoni, Francesco; Hanna, Michael; Roberts, Mark; Bindoff, Laurence; Brierley, Charlotte; Cooper, Robert G.; Cottrell, David A; Davis, Nick P; Gibson, Andrew; Gorman, Grainne S.; Hammans, Simon; Jackson, Andrew P.; Khan, Aijaz; Lane, Russell; McConville, John; McEntagart, Meriel; Al-Memar, Ali; Nixon, John; Panicker, Jay; Parton, Matt; Petty, Richard; Price, Christopher J; Rakowicz, Wojtek; Ray, Partha; Schapira, Anthony H; Swingler, Robert; Turner, Chris; Wagner, Kathryn R; Maddison, Paul; Shaw, Pamela J; Straub, Volker; Bushby, Kate; Lochmueller, Hanns. 2013. 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. Human Mutation. 34: 1111-1118. doi: 10.1002/humu.22342
  • Tzoulis, Charalampos; Johansson, Stefan; Haukanes, Bjørn Ivar; Boman, Helge; Knappskog, Per; Bindoff, Laurence. 2013. Novel SACS mutations identified by whole exome sequencing in a Norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS ONE. 8. 5 pages. doi: 10.1371/journal.pone.0066145
  • Tzoulis, Charalampos; Tran, Gia Tuong Thi; Schwarzlmüller, Thomas; Specht, Karsten; Haugarvoll, Kristoffer; Balafkan, Novin; Lilleng, Peer Kåre; Miletic, Hrvoje; Biermann, Martin; Bindoff, Laurence. 2013. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain. 136: 2393-2404. doi: 10.1093/brain/awt103
  • Tzoulis, Charalampos; Vedeler, Christian A.; Haugen, Mette; Storstein, Anette; Tran, Gia Tuong Thi; Gjerde, Ivar Otto; Biermann, Martin; Schwarzlmüller, Thomas; Bindoff, Laurence. 2013. Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurology. 13. 4 pages. doi: 10.1186/1471-2377-13-55
  • Balafkan, Novin; Tzoulis, Charalampos; Muller, Bernd; Haugarvoll, Kristoffer; Tysnes, Ole-Bjørn; Larsen, Jan Petter; Bindoff, Laurence. 2012. Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion (Amsterdam. Print). 12: 640-643. doi: 10.1016/j.mito.2012.08.004
  • Bindoff, Laurence; Engelsen, Bernt. 2012. Mitochondrial diseases and epilepsy. Epilepsia. 53: 92-97. doi: 10.1111/j.1528-1167.2012.03618.x
  • Lunde, Hanne Marie Bøe; Skeie, Geir Olve; Kjørsvik, Anne; Karlsen, Bjørn; Miletic, Hrvoje; Lindal, Sigurd; Brautaset, Nils Jakob; Bindoff, Laurence. 2012. Focal myositis - A neurogenic phenomenon? Neuromuscular Disorders. 22: 350-354. doi: 10.1016/j.nmd.2011.10.023
  • Neeve, VCM; Samuels, David C; Bindoff, Laurence; Van den Bosch, B; van Goethem, Gert; Smeets, Hubert; Lombes, Anne; Jardel, Claude; Hirano, Michio; Dimauro, Salvatore; De Vries, Maaike; Smeitink, Jan A.; Smits, Bart W.; de Coo, IFM; Saft, Carsten; Klopstock, Thomas; Keiling, Bianca-Cortina; Czermin, Birgit; Abicht, A; Lochmuller, Hanns; Hudson, Gavin; Gorman, G; Turnbull, D; Taylor, Robert W.; Holinski-Feder, Elke; Chinnery, Patrick F; Horvath, Rita. 2012. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain. 135: 3614-3626. doi: 10.1093/brain/aws298
  • Sanaker, Petter Schandl; Toompuu, Marina; McClorey, Graham; Bindoff, Laurence. 2012. Antisense oligonucleotide corrects splice abnormality in hereditary myopathy with lactic acidosis. Gene. 494: 231-236. doi: 10.1016/j.gene.2011.11.021
  • Tzoulis, Charalampos; Bindoff, Laurence. 2012. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain. 135: 3627-3634. doi: 10.1093/brain/aws223
  • Tzoulis, Charalampos; Tran, Gia Tuong Thi; Gjerde, Ivar Otto; Aasly, Jan; Neckelmann, Gesche F; Rydland, Jana; Varga, Viktoria; Wadel-Andersen, Pia; Bindoff, Laurence. 2012. Leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate (LBSL) caused by a novel mutation in DARS2. European Journal of Neurology. 19: 728-728. doi: 10.1111/j.1468-1331.2012.03889.x
  • Tzoulis, Charalampos; Tran, Gia Tuong Thi; Gjerde, Ivar Otto; Aasly, Jan; Neckelmann, Gesche F; Rydland, Jana; Varga, Viktoria; Wadel-Andersen, Pia; Bindoff, Laurence. 2012. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Journal of Neurology. 259: 292-296. doi: 10.1007/s00415-011-6176-9
  • Tzoulis, Charalampos; Tran, Gia Tuong Thi; Miletic, Hrvoje; Bindoff, Laurence. 2012. Polymerase gamma (POLG) associated encephalopathy is characterised by neuronal mtDNA depletion and respiratory complex-I deficiency. European Journal of Neurology. 19: 63-63.
  • Apold, Jaran; Bindoff, Laurence. 2011. A new malformation syndrome with congenital arthrogryposis and severe hyperkeratosis. Clinical Dysmorphology. 20: 75-76. doi: 10.1097/MCD.0b013e328343bad2
  • Baruffini, Enrico; Horvath, Rita; Dallabona, Cristina; Czermin, Birgit; Lamantea, Eleonora; Bindoff, Laurence; Invernizzi, Federica; Ferrero, Iliana; Zeviani, Massimo; Lodi, Tiziana. 2011. Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion (Amsterdam. Print). 11: 182-190. doi: 10.1016/j.mito.2010.09.007
  • Bindoff, Laurence. 2011. MODELS OF MITOCHONDRIAL DISEASE AND HOW THESE ARE BEING USED TO IDENTIFY NOVEL TREATMENTS. European Journal of Neurology. 18: 624-624.
  • Bindoff, Laurence. 2011. Når det vanligste ikke er forklaringen. Tidsskrift for Den norske legeforening. 20: 75-76.
  • Bindoff, Laurence. 2011. Mitochondrial function and pathology in status epilepticus. Epilepsia. 52: 6-7. doi: 10.1111/j.1528-1167.2011.03223.x
  • Bindoff, Laurence; Tzoulis, Charalampos. 2011. Defining the mitochondrial POLG-related spinocerebellar ataxia and epilepsy in Norway. Advances in Clinical Neurosciences. 11: 20-21.
  • Haugarvoll, Kristoffer; Bindoff, Laurence. 2011. A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype. Journal of Parkinson's Disease. 1: 119-122. doi: 10.3233/JPD-2011-11006
  • Holman, Sarah K.; Daniel, Phil; Jenkins, Zandra A.; Herron, Rachel L.; Morgan, Tim; Savarirayan, Ravi; Chow, Chung Wo; Bohring, Axel; Mosel, Annette; Lacombe, Didier; Steiner, Bernhard; Schmitt-Mechelke, Thomas; Schroter, Barbara; Raas-Rothschild, Annick; Miñaur, Sixto Garcia; Porteous, Mary E.; Parker, Michael; Quarrell, Oliver; Tapon, Dagmar; Cormier-Daire, Valérie; Mansour, Sahar; Nash, Ruth; Bindoff, Laurence; Fiskerstrand, Torunn; Robertson, Stephen P. 2011. The male phenotype in osteopathia striata congenita with cranial sclerosis. American Journal of Medical Genetics. Part A. 155A: 2397-2408. doi: 10.1002/ajmg.a.34178
  • Stensland, Eva; Lindal, Sigurd; Jonsrud, Christoffer; Torbergsen, Torberg; Bindoff, Laurence; Rasmussen, Magnhild; Dahl, Arve; Thyssen, Frances; Nilssen, Øivind. 2011. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscular Disorders. 21: 41-46. doi: 10.1016/j.nmd.2010.08.008
  • Suomalainen, Anu; Elo, Jenni M.; Pietilainen, Kirsti H.; Hakonen, Anna H; Sevastianova, Ksenia; Korpela, Mari; Isohanni, Pirjo; Marjavaara, Sanna K.; Tyni, Tiina; Kiuru-Enari, Sari; Pihko, Helena; Darin, Niklas; Ounap, Katrin; Kluijtmans, Leo AJ; Paetau, Anders; Buzkova, Jana; Bindoff, Laurence; Annunen-Rasila, Johanna; Uusimaa, Johanna; Rissanen, Aila; Yki-Järvinen, Hannele; Hirano, Michio; Tulinius, Mar; Smeitink, Jan A.; Tyynismaa, Henna. 2011. FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurology. 10: 806-818. doi: 10.1016/S1474-4422(11)70155-2
  • Vedeler, Christian A.; Bindoff, Laurence. 2011. A family with atypical CADASIL. Journal of Neurology. 258: 1888-1889. doi: 10.1007/s00415-011-6023-z
  • Bindoff, Laurence; Fiskerstrand, Torunn; H'mida-Ben Brahim, D; Johansson, S; M'Zahem, A; Haukanes, BI; Drouot, N; Zimmermann, J; Cole, AJ; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, M; Tazir, Meriem; Klockgether, T; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Koenig, Michel; Knappskog, Per Morten. 2010. Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders. 20: 680-680. doi: 10.1016/j.nmd.2010.07.266
  • Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan; M'Zahem, A; Drouot, Nathalie; Zimmermann, Julian; Cole, Andrew J; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, Mirna; Tazir, Meriem; Klockgether, Thomas; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Bindoff, Laurence; Koenig, Michel; Knappskog, Per Morten; Haukanes, Bjørn Ivar. 2010. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics. 87: 410-417. doi: 10.1016/j.ajhg.2010.08.002
  • Neeve, VCM; Van den Bosch, B; van Goethem, Gert; Bindoff, Laurence; Smeets, B; Lombes, A; Hirano, M; Dimauro, Salvatore; De Vries, Martine Helena; Smeitink, Jan A.; Czermin, Birgit; Holinski-Feder, E; Hudson, Gavin; Turnbull, DM; Taylor, RW; Chinnery, PF; Horvath, R. 2010. What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? Neuromuscular Disorders. 20: S26-S26.
  • Nordal, Hilde Haugedal; Kittang, Bård Reiakvam; Bindoff, Laurence. 2010. Rhabdomyolysis after group C streptococcal infection. Infectious Disease Reports. 2:e15: 49-50.
  • Sanaker, Petter Schandl; Nakkestad, Hanne Linda; Downham, Esther; Bindoff, Laurence. 2010. A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy. Acta Neurologica Scandinavica. 121: 109-113. doi: 10.1111/j.1600-0404.2009.01243.x
  • Sanaker, Petter Schandl; Toompuu, Marina; Hogan, Vanessa E.; He, Langping; Tzoulis, Charalampos; Chrzanowska-Lightowlers, Zofia MA; Taylor, Robert W.; Bindoff, Laurence. 2010. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta - Molecular Basis of Disease. 1802: 539-544. doi: 10.1016/j.bbadis.2010.02.010
  • Sanaker, Petter Schandl; Toompuu, Marina; McClorey, G; Bindoff, Laurence. 2010. Antisense oligonucleotide correction of splice error in cultured ISCU myopathy muscle cells. Neuromuscular Disorders. 20: 676-676. doi: 10.1016/j.nmd.2010.07.254
  • Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre; Engelsen, Bernt; Viscomi, Carlo; Moen, Gunnar; Ersland, Lars; Zeviani, Massimo; Bindoff, Laurence. 2010. Localized cerebral energy failure in mitochondrial polymerase gamma-associated encephalopathy. European Journal of Neurology. 17: 71-71.
  • Tzoulis, Charalampos; Neckelmann, Gesche F; Mørk, Sverre; Engelsen, Bernt; Viscomi, Carlo; Moen, Gunnar; Ersland, Lars; Zeviani, Massimo; Bindoff, Laurence. 2010. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain. 133: 1428-1437. doi: 10.1093/brain/awq067
  • Yu-Wai-Man, Patrick; Griffiths, Philip G.; Gorman, Grainne S.; Lourenco, Charles Marques; Wright, Alan F.; Auer-Grumbach, Michaela; Toscano, Antonio; Musumeci, Olimpia; Valentino, Maria L.; Caporali, Leonardo; Lamperti, Constanza; Tallaksen, Chantal; Duffey, Paul; Miller, Jonathan L.; Whittaker, Roger Graham; Baker, Mark R.; Jackson, Malcolm J.; Clarke, Michael P.; Dhillon, Baljean; Czermin, Birgit; Stewart, Joanna D.; Hudson, Gavin; Reynier, Pascal; Bonneau, Dominique; Marques Jr., Wilson; Lenaers, Guy; McFarland, Robert; Taylor, Robert W.; Turnbull, Douglass M; Votruba, Marcela; Zeviani, Massimo; Carelli, Valerio; Bindoff, Laurence; Horvath, Rita; Amati-Bonneau, Patrizia; Chinnery, Patrick F. 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain. 133: 771-786. doi: 10.1093/brain/awq007
  • Yu-Wai-Man, Patrick; Sitarz, Kamil S; Samuels, David C; Griffiths, Philip G.; Reeve, Amy K; Bindoff, Laurence; Horvath, Rita; Chinnery, Patrick F. 2010. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Human Molecular Genetics. 19: 3043-3052. doi: 10.1093/hmg/ddq209
  • Fiskerstrand, Torunn; Knappskog, Per; Majewski, Jacek; Wanders, Ronald J.A.; Boman, Helge; Bindoff, Laurence. 2009. A novel Refsum-like disorder that maps to chromosome 20. Neurology. 72: 20-27. doi: 10.1212/01.wnl.0000333664.90605.23
  • Gramstad, Arne; Bindoff, Laurence; Lillebø, Atle; Tzoulis, Charalampos; Engelsen, Bernt. 2009. Neuropsychological performance of patients with polg1 mutation and epilepsy: evidence of more pronounced right than left hemisphere dysfunction? Epilepsia. 50: 119-119. doi: 10.1111/j.1528-1167.2009.02063.x
  • Gramstad, Arne; Bindoff, Laurence; Lillebø, Atle; Tzoulis, Charalampos; Engelsen, Bernt. 2009. Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy & Behavior. 16: 172-174. doi: 10.1016/j.yebeh.2009.01.014
  • Jenkins, Zandra A.; van Kogelenberg, Margriet; Morgan, Tim; Jeffs, Aaron; Fukuzawa, Ryuji; Pearl, Esther; Thaller, Christina; Hing, Anne V.; Porteous, Mary E.; Garcia-Minaur, Sixto; Bohring, Axel; Lacombe, Didier; Stewart, Fiona; Fiskerstrand, Torunn; Bindoff, Laurence; Berland, Siren; Adés, Lesley C.; Tchan, Michel; David, Albert; Wilson, Louise C.; Hennekam, Raoul C.M.; Donnai, Dian; Mansour, Sahar; Cormier-Daire, Valérie; Robertson, Stephen P. 2009. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics. 41: 95-100. doi: 10.1038/ng.270
  • Lu, Timothy T.; Lao, Oscar; Nothnagel, Michael; Junge, Olaf; Freitag-Wolf, Sandra; Caliebe, Amke; Balascakova, Miroslava; Bertranpetit, Jaume; Bindoff, Laurence; Comas, David; Holmlund, Gunilla; Kouvatsi, Anastasia; Macek, Milan; Mollet, Isabelle; Nielsen, Finn Sivert; Parson, Walther; Palo, Jukka; Ploski, Rafal; Sajantila, Antti; Tagliabracci, Adriano; Gether, Ulrik; Werge, Thomas; Rivadeneira, Fernando; Hofman, Albert; Uitterlinden, André G.; Gieger, Christian; Wichmann, Heinz-Erich; Ruether, Andreas; Schreiber, Stefan; Becker, Christian; Nürnberg, Peter; Nelson, Matthew Roberts; Kayser, Manfred; Krawczak, Michael. 2009. An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. European Journal of Human Genetics. 17: 967-975. doi: 10.1038/ejhg.2008.266
  • Tzoulis, Charalampos; Bindoff, Laurence. 2009. Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Stroke. 40: E15-E17. doi: 10.1161/STROKEAHA.108.523118
  • Tzoulis, Charalampos; Papingji, Migena; Fiskestrand, Torunn; Røste, Line Sveberg; Bindoff, Laurence. 2009. Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. Acta Neurologica Scandinavica. 120: 38-41. doi: 10.1111/j.1600-0404.2009.01212.x
  • Tzoulis, Charalampos; Sætran, Hege; Mørk, Sverre; Bindoff, Laurence. 2009. MRI and neuropathology findings in three patients with the syndrome of mitochondrial spinocerebellar ataxia and epilepsy (MSCAE). Neuropathology and Applied Neurobiology. 35: 20-20.
  • Downham, Esther; Winterthun, Synnøve; Nakkestad, Hanne Linda; Hirth, Asle; Halvorsen, Thomas; Taylor, Robert W.; Bindoff, Laurence. 2008. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders. 18: 310-314. doi: 10.1016/j.nmd.2008.01.003
  • Engelsen, Bernt; Tzoulis, Charalampos; Karlsen, Bjørn; Lillebø, Atle; Lægreid, Liv Marie; Aasly, Jan; Zeviani, Massimo; Bindoff, Laurence. 2008. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain. 131: 818-828. doi: 10.1093/brain/awn007
  • Johansen, Krisztina K; Bindoff, Laurence; Rydland, Jana; Aasly, Jan. 2008. Palatal tremor and facial dyskinesia in a patient with POLG1 mutation. Movement Disorders. 23: 1624-1626. doi: 10.1002/mds.22178
  • Lao, Oscar; Lu, Timothy T.; Nothnagel, Michael; Junge, Olaf; Freitag-Wolf, Sandra; Caliebe, Amke; Balascakova, Miroslava; Bertranpetit, Jaume; Bindoff, Laurence; Comas, David; Hoimlund, Gunilla; Kouvatsi, Anastasi; Macek, Milan; Mollet, Isabelle; Parson, Walther; Palo, Jukka; Ploski, Rafal; Sajantila, Antti; Tagliabracci, Adriano; Gether, Ulrik; Werge, Thomas; Rivadeneira, Fernando; Hofman, Albert; Uitterlinden, André G.; Gieger, Christian; Wichmann, Heinz-Erich; Rüther, Andreas; Schreiber, Stefan; Becker, Christian; Nürnberg, Peter; Nelson, Matthew R.; Krawczak, Michael; Kayser, Manfred. 2008. Correlation between genetic and geographic structure in Europe. Current Biology. 18: 1241-1248. doi: 10.1016/j.cub.2008.07.049
  • Tzoulis, Charalampos; Denora, Paola S.; Santorelli, Filippo M; Bindoff, Laurence. 2008. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. Journal of Neurology. 255: 1142-1144. doi: 10.1007/s00415-008-0858-y
  • Vesterhus, Mette; Ræder, Helge; Aurlien, Harald; Gjesdal, Clara Gram; Bredrup, Cecilie; Holm, Pål Ivar; Molven, Anders; Bindoff, Laurence; Berstad, Arnold; Njølstad, Pål Rasmus. 2008. Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care. 31: 1738-1740. doi: 10.2337/dc07-2217
  • Bindoff, Laurence. 2007. Reply to Chinnery. Brain. 130: E70.
  • Hakonen, Anna H; Davidzon, Guido; Salemi, Renato; Bindoff, Laurence; van Goethem, Gert; Dimauro, Salvatore; Thorburn, David R; Suomalainen, Anu. 2007. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. European Journal of Human Genetics. 15: 779-783. doi: 10.1038/sj.ejhg.5201831
  • Sanaker, Petter Schandl; Husebye, Eystein S.Junior; Fondenes, Ove; Bindoff, Laurence. 2007. Clinical evolution of Kearns-Sayre syndrome with polyendocrinopathy and respiratory failure. Acta Neurologica Scandinavica. 115: 64-67. doi: 10.1111/j.1600-0404.2007.00850.x
  • Sanaker, Petter Schandl; Lindland, Stian; Rekeland, Frode; Bindoff, Laurence. 2007. En mann med progredierende spastisk paraparese. Tidsskrift for Den norske legeforening. 127: 3085-3087.
  • Tzoulis, Charalampos; Bindoff, Laurence. 2007. MELAS associated with mutations in the POLG1 gene. Neurology. 09.
  • Tzoulis, Charalampos; Denora, Paola S.; Bindoff, Laurence. 2007. Hereditary spastic paraplegia caused by the novel mutation 1047INSC in the SPG7 gene. European Journal of Neurology. 14: 240-240.
  • Tzoulis, Charalampos; Moen, Gunnar; Bindoff, Laurence. 2007. Cerebral imaging in mitochondrial spinocerebellar ataxia caused by POLG mutations shows diagnostic specificity and provides insight into disease evolution. European Journal of Neurology. 14: 14-15.
  • Bindoff, Laurence; Mjellem, N; Sommerfelt, K; Krossnes, BK; Roberts, F; Krohn, Jørgen Gitlesen; Tranheim, RS; Haggerty, ID. 2006. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation. Neuromuscular Disorders. 16: 559-563.
  • Engelsen, Bernt; Tzoulis, Charalampos; Zeviani, Massimo; Karlsen, Bjørn Reidar; Lillebø, Atle; Lægreid, Liv; Aasly, Jan; Bindoff, Laurence. 2006. The clinical semiology of epilepsy in patients with mitochondriopathy due to polymerasegamma-(POLG) mutations. Epilepsia. 47: 248-248.
  • Maniura-Weber, Katharina; Helm, Mark; Engemann, Katrin; Eckertz, Sabrina; Möllers, Myriam; Schauen, Matthias; Haryapetyan, Armine; Kleist-Retzow, Jürgen-Christoph von; Lightowlers, Robert N.; Bindoff, Laurence; Wiesner, Rudolf J. 2006. Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNA Leu(UUR))) gene. Nucleic Acids Research. 34: 6404-6415. doi: 10.1093/nar/gkl727
  • Palin, Eino Juhani; Hakonen, Anna; Heiskanen, Silja; Juvonen, Vesa; Udd, Bjarne; Bindoff, Laurence; van Goethem, Gert; Kaguni, Laurie S.; Suomalainen, Anu. 2006. Molecular background of mitochondrial recessive ataxia syndrome, MIRAS. The FASEB Journal. 20: A920-A920.
  • Sanaker, Petter S.; Nakkestad, Hanne Linda; Downham, E; Bindoff, Laurence. 2006. Late-onset mitochondrial encephalomyopathy with stroke-like episodes and novel mitochondrial DNA mutation. European Journal of Neurology. 13: 40-40.
  • Skeie, Geir Olve; Aurlien, Harald; Müller, Juliane S.; Lochmüller, Hanns; Norgård, Gunnar; Bindoff, Laurence. 2006. Unusual features in a boy with the rapsyn N88K mutation. Neurology. 2. 2262-2263.
  • Tzoulis, Charalampos; Engelsen, Bernt; Telstad, Wenche; Aasly, Jan; Zeviani, Massimo; Winterthun, Synnøve; Ferrari, Gianfrancesco; Aarseth, Jan Harald; Bindoff, Laurence. 2006. The clinical spectrum of disease in 26 patients with G1399A or G2243C mutations in the gene encoding the catalytic subunit of mitochondrial DNA-polymerase gamma. European Journal of Neurology. 13: 40-40.
  • Tzoulis, Charalampos; Engelsen, Bernt; Telstad, Wenche; Aasly, Jan; Zeviani, Massimo; Winterthun, Synnøve; Ferrari, Gianfrancesco; Aarseth, Jan Harald; Bindoff, Laurence. 2006. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain. 129: 1685-1692. doi: 10.1093/brain/awl097
  • Hakonen, Anna H; Heiskanen, Silja; Juvonen, Vesa; Lappalainen, Ilse; Luoma, Petri T; Rantamäki, Maria; Goethem, Gert van; Löfgren, Ann; Hackman, Peter; Paetau, Anders; Kaakkola, Seppo; Majamaa, Kari; Varilo, Teppo; Udd, Bjarne; Kääriäinen, Helena; Bindoff, Laurence; Suomalainen, Anu. 2005. Mitochondrial DNA polymerase W748S mutation: A new common cause of spinocerebellar ataxia with ancient European origin. American Journal of Human Genetics. 77: 430-441.
  • Winterthun, Synnøve; Ferrari, Gianfrancesco; He, Langping; Taylor, Robert W.; Zeviani, Massimo; Turnbull, Douglass M; Engelsen, Bernt; Moen, Gunnar; Bindoff, Laurence. 2005. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 64: 1204-1208.
  • Bidooki, S; Jackson, MJ; Johnson, MA; Chrzanowska-Lightowlers, ZMA; Taylor, RW; Venables, G; Lightowlers, RN; Turnbull, DM; Bindoff, Laurence. 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA(Ser(UCN)) gene. Neuromuscular Disorders. 14: 417-420.
  • Bindoff, Laurence. 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondric tRNASer/UCN) gene. Neuromuscular Disorders. 14: 417-420.
  • Bindoff, Laurence. 2004. Muscular diseases in the sun. Tidsskrift for Den norske legeforening. 124: 1754.
  • Bindoff, Laurence. 2004. Risk of developing a mitochondrial DNA deletion disorder. The Lancet. 364: 592-596.
  • Bindoff, Laurence; Winterthun, S; Ferrari, G; He, L; Taylor, R; Zeviani, M; Turnbull, D; Engelsen, Bernt; Moen, G. 2004. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Biochimica et Biophysica Acta - Bioenergetics. 1657: 29-29.
  • Maniura-Weber, K; Taylor, RW; Johnson, MA; Chrzanowska-Lightowlers, Z; Morris, AAM; Charlton, CPJ; Turnbull, DM; Bindoff, Laurence. 2004. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics. 12: 509-512.
  • Bindoff, Laurence Albert; Gilhus, Nils Erik. 2003. Arvelige muskelsykdommer. Tidsskrift for Den norske legeforening. 123: 2588-2592.
  • Chinnery, Patrick F; Bindoff, Laurence Albert. 2003. Tthe treatment of mitochondrial disorders. Neuromuscular Disorders. 13: 757-764.
  • Farbu, Elisabeth; Softeland, Eirik; Bindoff, Laurence Albert. 2003. Anaesthetic complications associated with myotonia congenita: case study and comparison with other myotonic disorders. Acta Anaesthesiologica Scandinavica. 47: 630-634.
  • Howse, Mathew LP; Wardell, Theresa M; Fisher, Christopher J; Tilley, Peter JB; Chinnery, Patrick F; Bindoff, Laurence Albert. 2003. Late onset mitochondrial disorder with electromyographical evidence of myotonia. Muscle &Nerve. 28: 757-759.
  • Martinuzzi, Andrea; Sartori, Elena; Fanin, Marina; Nascimbeni, Annachiara; Valente, Lucia; Angelini, Corrado; Siciliano, Gabriele; Mongini, Tiziana; Tonin, Paola; Tomelleri, Giuliano; Toscano, Antonio; Merlini, Luciano; Bindoff, Laurence Albert; Bertelli, Stefano. 2003. Phenotype modulators in myophosphorylase deficiency. Annals of Neurology. 53: 497-502.
  • Rekand, Tiina; Vedeler, C.; Gramstad, Arne; Bindoff, Laurence Albert. 2003. Hashimoto's encephalopathy: a treatable cause of mental impairment, stroke and seizures. European Journal of Neurology. 10: 746-747.
  • Temperley, Richard J.; Seneca, Sara H; Tonska, Katarzyna; Bartnik, Ewa; Bindoff, Laurence Albert; Lightowlers, Robert N; Chrzanowska-Lightowlers, Zofia MA. 2003. Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitrochondria. Human Molecular Genetics. 12: 2341-2348.
  • Bindoff, Laurence Albert. 2002. A patient that changed my practice. Practical Neurology. 2: 302-303.
  • Farbu, Elisabeth; Bindoff, Laurence Albert. 2002. Doparesponsiv dystoni - en arvelig dystoni som er lett å behandle. Tidsskrift for Den norske legeforening. 122: 379-381.
  • Mellgren, Gunnar; Bleskestad, Inger Hjørdis; Aanderud, Sylvi J; Bindoff, Laurence Albert. 2002. Thyrotoxicosis and paraparesis in a young woman: case report and review of the literature. Thyroid. 12: 77-80.
  • Mellgren, Gunnar; Holm, Pål Ivar; Lien, Ernst Asbjørn; Bleskestad, Inger Hjørdis; Aanderud, Sylvi J; Bindoff, Laurence Albert. 2002. Tyreotoksisk periodisk paralyse - en uvanlig komplikasjon ved hypertyreose. Tidsskrift for Den norske legeforening. 122: 1029-1031.
  • Romi, Fredrik; Tysnes, Ole-Bjørn; Kråkenes, Jostein; Savoiardo,, M; Aarli, Johan Arild; Bindoff, Laurence Albert. 2002. Cystic Dilatation of Virchow-Robin Spaces in the Midbrain. European Neurology. 47: 186-188.
  • Curtis, A.R; Fey, C; Morris, CM; Bindoff, Laurence Albert. 2001. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nature Genetics. 28: 350-354.
  • Hagen, Ellen M; Farbu, Elisabeth; Bindoff, Laurence Albert. 2001. Acute dystoni ved behandling med metoklopramid (Afipran). Tidsskrift for Den norske legeforening. 121: 2162-2163.
  • Bindoff, Laurence. 2000. Muskelklinikken i Bergen. Muskelsyk. 4. 13-14.
  • Bindoff, Laurence Albert. 2000. Muskelklinikken i Bergen. Muskelsyk. 4. 13-14.
  • Chinnery, PF; Johnson, MA; Wardell, TM; Sing-Kler, R; Hayes, C; Brown, DT; Taylor, RW; Bindoff, Laurence Albert; Turnbull, DM. 2000. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 48: 188-193.
  • Chinnery, PF; Johnson, MA; Wardell, TM; Sing-Kler, R; Hayes, C; Brown, DT; Taylor, RW; Bindoff, Laurence; Turnbull, DM. 2000. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology. 48: 188-193.
  • Howell, N; Ghosh, SS; Fahy, E; Bindoff, Laurence. 2000. Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 172: 1-6.
  • Howell, N; Ghosh, SS; Fahy, E; Bindoff, Laurence Albert. 2000. Longidudinal analysis of the segregation of mtDNA mutations in heteroplasm individuals. Journal of Neurological Sciences. 172: 1-6.
  • Bindoff, Laurence. 1999. Treatment of mitochondrial disorders: practical and theoretical issues. European journal of paediatric neurology. 3: 201-208.
  • Chinnery, PF; Zwijnenburg, PJG; Walker, M; Howell, N; Taylor, RW; Lightowlers, RN; Bindoff, Laurence; Turnbull, DM. 1999. Non-radom tissue distribution of mutant mtDNA in humans. American Journal of Medical Genetics. 85: 498-501.
  • Chrzanowska-Lightowlers, Z; Temperley, RJ; McGregor, A; Bindoff, Laurence; Lightowlers, RN. 1999. Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene. 230: 241-247.
  • Hofman, S; Tiranti, V; Comi, G-P; Uziel, G; Meitinger, T; Zeviani, M; Jacksch, M; Galimberti, C; Bezold, C; Lulli, L; Freisinger, P; Bindoff, Laurence. 1999. Loss of function SURF I mutations in cytochrome c oxidase deficiency. Annals of Neurology. 161-166.
  • Pang, J; Allotey, R; Wadia, N; Sasaki, H; Bindoff, Laurence; Chamberlain, S. 1999. A common disease haploltype segretating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin. European Journal of Human Genetics. 841-845.
  • Bushby, K; Anderson, LV; Pollitt, C; Naom, I; Muntoni, F; Bindoff, Laurence. 1998. Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2. Brain. 121: 581-588.
  • Howse, M; Bindoff, Laurence; Carmichael, A. 1998. Facial vasculitic rash associated with intravenous immuglobulin. BMJ (British Medical Journal). 317: 1291-1291.
Book sections
  • Bindoff, Laurence. 2015. Myopathies. Chapter 20. In:
    • Colosimo, Carlo; Gil-Nagel, Antonio; Gilhus, Nils Erik; Rapoport, Alan; Williams, Olajide. 2015. Handbook of Neurological Therapy. Oxford University Press. 480 pages. ISBN: 978-0-19-986292-4.
  • Zeviani, Massimo; Simonati, Alessandro; Bindoff, Laurence. 2012. Ataxia in mitochondrial disorders. Chapter 22, pages 359-372. In:
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