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Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012146
By:
- Liang, Kristina Xiao;
- Kristiansen, Cecilie Katrin;
- Mostafavi, Sepideh;
- Vatne, Guro Helén;
- Zantingh, Gina Alien;
- Kianian, Atefeh;
- Tzoulis, Charalampos;
- Høyland, Lena Elise;
- Ziegler, Mathias;
- Perez, Roberto Megias;
- Furriol, Jessica;
- Zhang, Zhuoyuan;
- Balafkan, Novin;
- Hong, Yu;
- Siller, Richard;
- Sullivan, Gareth John;
- Bindoff, Laurence A
Publication type:
Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52
By:
- Sofou, Kalliopi;
- De Coo, Irenaeus F. M.;
- Isohanni, Pirjo;
- Ostergaard, Elsebet;
- Naess, Karin;
- Meirleir, Linda De;
- Tzoulis, Charalampos;
- Uusimaa, Johanna;
- De Angst, Isabell B.;
- Lönnqvist, Tuula;
- Pihko, Helena;
- Mankinen, Katariina;
- Bindoff, Laurence A.;
- Tulinius, Már;
- Darin, Niklas
Publication type:
Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Published in:
2014
By:
- 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 A;
- Tulinius, Már;
- Darin, Niklas
Publication type:
journal article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1
By:
- Haugarvoll, Kristoffer;
- Johansson, Stefan;
- Tzoulis, Charalampos;
- Haukanes, Bjørn Ivar;
- Bredrup, Cecilie;
- Neckelmann, Gesche;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A.
Publication type:
Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Published in:
2013
By:
- Haugarvoll, Kristoffer;
- Johansson, Stefan;
- Tzoulis, Charalampos;
- Haukanes, Bjørn Ivar;
- Bredrup, Cecilie;
- Neckelmann, Gesche;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A
Publication type:
journal article
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
Published in:
2016
By:
- Vissing, John;
- Barresi, Rita;
- Witting, Nanna;
- Van Ghelue, Marijke;
- Gammelgaard, Lise;
- Bindoff, Laurence A.;
- Straub, Volker;
- Lochmüller, Hanns;
- Hudson, Judith;
- Wahl, Christoph M.;
- Arnardottir, Snjolaug;
- Dahlbom, Kathe;
- Jonsrud, Christoffer;
- Duno, Morten
Publication type:
journal article
Nigrostriatal denervation sine parkinsonism.
Published in:
2016
By:
- Haugarvoll, Kristoffer;
- Bindoff, Laurence A.;
- Tzoulis, Charalampos
Publication type:
commentary
Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.
Published in:
2015
By:
- Korner, Germaine;
- Noain, Daniela;
- Ming Ying;
- Hole, Magnus;
- Flydal, Marte I.;
- 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 A.;
- Martinez, Aurora;
- Thöny, Beat;
- Ying, Ming
Publication type:
journal article
Mitochondrial diseases and epilepsy.
Published in:
Epilepsia (Series 4), 2012, v. 53, p. 92, doi. 10.1111/j.1528-1167.2012.03618.x
By:
- Bindoff, Laurence A.;
- Engelsen, Bernt A.
Publication type:
Article
Mitochondrial function and pathology in status epilepticus.
Published in:
Epilepsia (Series 4), 2011, v. 52, p. 6, doi. 10.1111/j.1528-1167.2011.03223.x
By:
- Bindoff, Laurence A.
Publication type:
Article
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5870, doi. 10.3390/ijms22115870
By:
- Pakdaman, Yasaman;
- Berland, Siren;
- Bustad, Helene J.;
- Erdal, Sigrid;
- Thompson, Bryony A.;
- James, Paul A.;
- Power, Kjersti N.;
- Ellingsen, Ståle;
- Krooni, Martin;
- Berge, Line I.;
- Sexton, Adrienne;
- Bindoff, Laurence A.;
- Knappskog, Per M.;
- Johansson, Stefan;
- Aukrust, Ingvild
Publication type:
Article
Understanding the Epilepsy in POLG Related Disease.
Published in:
International Journal of Molecular Sciences, 2017, v. 18, n. 9, p. 1845, doi. 10.3390/ijms18091845
By:
- Hikmat, Omar;
- Tzoulis, Charalampos;
- Bindoff, Laurence A.;
- Eichele, Tom
Publication type:
Article
Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease.
Published in:
Cell & Tissue Research, 2020, v. 380, n. 1, p. 15, doi. 10.1007/s00441-019-03164-x
By:
- Liang, Xiao;
- Kristiansen, Cecilie Katrin;
- Vatne, Guro Helén;
- Hong, Yu;
- Bindoff, Laurence Albert
Publication type:
Article
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
Published in:
Human Genetics, 2021, v. 140, n. 11, p. 1593, doi. 10.1007/s00439-021-02279-y
By:
- Hytönen, Marjo K.;
- Sarviaho, Riika;
- Jackson, Christopher B.;
- Syrjä, Pernilla;
- Jokinen, Tarja;
- Matiasek, Kaspar;
- Rosati, Marco;
- Dallabona, Cristina;
- Baruffini, Enrico;
- Quintero, Ileana;
- Arumilli, Meharji;
- Monteuuis, Geoffray;
- Donner, Jonas;
- Anttila, Marjukka;
- Suomalainen, Anu;
- Bindoff, Laurence A.;
- Lohi, Hannes
Publication type:
Article
Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.
Published in:
Nucleic Acids Research, 2006, v. 34, n. 22, p. 6404, doi. 10.1093/nar/gkl727
By:
- Maniura-Weber, Katharina;
- Helm, Mark;
- Engemann, Katrin;
- Eckertz, Sabrina;
- Möllers, Myriam;
- Schauen, Matthias;
- Hayrapetyan, Armine;
- von Kleist-Retzow, Jürgen-Christoph;
- Lightowlers, Robert N.;
- Bindoff, Laurence A.;
- Wiesner, Rudolf J.
Publication type:
Article
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1355861
By:
- Arntsen, Vibeke;
- Jamali, Ahmed;
- Sikiric, Alma;
- Kristensen, Erle;
- Tangeraas, Trine;
- Kupliauskiene, Guste;
- Stefansdottir, Sigurbjörg;
- Bindoff, Laurence A.;
- Sand, Trond;
- Brodtkorb, Eylert
Publication type:
Article
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Published in:
Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1355861
By:
- Arntsen, Vibeke;
- Jamali, Ahmed;
- Sikiric, Alma;
- Kristensen, Erle;
- Tangeraas, Trine;
- Kupliauskiene, Guste;
- Stefansdottir, Sigurbjörg;
- Bindoff, Laurence A.;
- Sand, Trond;
- Brodtkorb, Eylert
Publication type:
Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
By:
- Mannucci, Ilaria;
- Dang, Nghi D. P.;
- Huber, Hannes;
- Murry, Jaclyn B.;
- Abramson, Jeff;
- Althoff, Thorsten;
- Banka, Siddharth;
- Baynam, Gareth;
- Bearden, David;
- Beleza-Meireles, Ana;
- Benke, Paul J.;
- Berland, Siren;
- Bierhals, Tatjana;
- Bilan, Frederic;
- Bindoff, Laurence A.;
- Braathen, Geir Julius;
- Busk, Øyvind L.;
- Chenbhanich, Jirat;
- Denecke, Jonas;
- Escobar, Luis F.
Publication type:
Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
By:
- Mannucci, Ilaria;
- Dang, Nghi D. P.;
- Huber, Hannes;
- Murry, Jaclyn B.;
- Abramson, Jeff;
- Althoff, Thorsten;
- Banka, Siddharth;
- Baynam, Gareth;
- Bearden, David;
- Beleza-Meireles, Ana;
- Benke, Paul J.;
- Berland, Siren;
- Bierhals, Tatjana;
- Bilan, Frederic;
- Bindoff, Laurence A.;
- Braathen, Geir Julius;
- Busk, Øyvind L.;
- Chenbhanich, Jirat;
- Denecke, Jonas;
- Escobar, Luis F.
Publication type:
Article
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Published in:
Nature Genetics, 2009, v. 41, n. 1, p. 95, doi. 10.1038/ng.270
By:
- Jenkins, Zandra A.;
- van Kogelenberg, Margriet;
- Morgan, Tim;
- Jeffs, Aaron;
- Fukuzawa, Ryuji;
- Pearl, Esther;
- Thaller, Christina;
- Hing, Anne V.;
- Porteous, Mary E.;
- Garcia-Miñaur, Sixto;
- Bohring, Axel;
- Lacombe, Didier;
- Stewart, Fiona;
- Fiskerstrand, Torunn;
- Bindoff, Laurence;
- Berland, Siren;
- Adès, Lesley C.;
- Tchan, Michel;
- David, Albert;
- Wilson, Louise C.
Publication type:
Article
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
Published in:
Nature Genetics, 2001, v. 28, n. 4, p. 350, doi. 10.1038/ng571
By:
- Curtis, Andrew R.J.;
- Fey, Constanze;
- Morris, Christopher M;
- Bindoff, Laurence A.;
- Ince, Paul G.;
- Chinnery, Patrick F.;
- Coulthard, Alan;
- Jackson, Margaret J.;
- Jackson, Andrew P.;
- McHale, Duncan P.;
- Hay, David;
- Barker, William A.;
- Markham, Alex F.;
- Bates, David;
- Curtis, Ann;
- Burn, John
Publication type:
Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
By:
- Wedding, Iselin Marie;
- Koht, Jeanette;
- Tran, Gia Tuong;
- Misceo, Doriana;
- Selmer, Kaja Kristine;
- Holmgren, Asbjørn;
- Frengen, Eirik;
- Bindoff, Laurence;
- Tallaksen, Chantal M. E.;
- Tzoulis, Charalampos
Publication type:
Article
Novel <i>SACS</i> Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Published in:
PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066145
By:
- Tzoulis, Charalampos;
- Johansson, Stefan;
- Haukanes, Bjørn Ivar;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A.
Publication type:
Article
Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 5, p. 440, doi. 10.1111/dmcn.12096
By:
- Ramm‐Pettersen, Anette;
- Nakken, Karl O;
- Skogseid, Inger M;
- Randby, Hans;
- Skei, Erik B;
- Bindoff, Laurence A;
- Selmer, Kaja K
Publication type:
Article
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
Published in:
BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-55
By:
- Tzoulis, Charalampos;
- Vedeler, Christian;
- Haugen, Mette;
- Storstein, Anette;
- Gia Tuong Tran;
- Gjerde, Ivar Otto;
- Biermann, Martin;
- Schwarzlmüller, Thomas;
- Bindoff, Laurence A
Publication type:
Article
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
Published in:
2013
By:
- Tzoulis, Charalampos;
- Vedeler, Christian;
- Haugen, Mette;
- Storstein, Anette;
- Tran, Gia Tuong;
- Gjerde, Ivar Otto;
- Biermann, Martin;
- Schwarzlmüller, Thomas;
- Bindoff, Laurence A
Publication type:
journal article
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
Published in:
Journal of Neurology, 2008, v. 255, n. 8, p. 1142, doi. 10.1007/s00415-008-0858-y
By:
- Tzoulis, Charalampos;
- Denora, Paola S.;
- Santorelli, Filippo M.;
- Bindoff, Laurence A.
Publication type:
Article
Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation.
Published in:
Journal of Neurology, 2007, v. 254, n. 2, p. 262, doi. 10.1007/s00415-006-0363-0
By:
- Farbu, Elisabeth;
- Tysnes, Ole-Bjørn;
- Mørk, Sverre;
- Krossnes, Bård;
- Bindoff, Laurence
Publication type:
Article
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 7, p. 967, doi. 10.1038/ejhg.2008.266
By:
- Lu, Timothy Tehua;
- Lao, Oscar;
- Nothnagel, Michael;
- Junge, Olaf;
- Freitag-Wolf, Sandra;
- Caliebe, Amke;
- Balascakova, Miroslava;
- Bertranpetit, Jaume;
- Bindoff, Laurence Albert;
- Comas, David;
- Holmlund, Gunilla;
- Kouvatsi, Anastasia;
- Macek, Milan;
- Mollet, Isabelle;
- Nielsen, Finn;
- Parson, Walther;
- Palo, Jukka;
- Ploski, Rafal;
- Sajantila, Antti;
- Tagliabracci, Adriano
Publication type:
Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
By:
- Hakonen, Anna H;
- Davidzon, Guido;
- Salemi, Renato;
- Bindoff, Laurence A;
- Van Goethem, Gert;
- DiMauro, Salvatore;
- Thorburn, David R;
- Suomalainen, Anu
Publication type:
Article
A novel point mutation in the mitochondrial tRNA<sup>Trp</sup> gene produces a neurogastrointestinal syndrome.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 6, p. 509, doi. 10.1038/sj.ejhg.5201185
By:
- Maniura-Weber, Katharina;
- Taylor, Robert W.;
- Johnson, Margaret A.;
- Chrzanowska-Lightowlers, Zofia;
- Morris, Andrew A. M.;
- Charlton, Charles P. J.;
- Turnbull, Douglas M.;
- Bindoff, Laurence A.
Publication type:
Article
A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 7, p. 841, doi. 10.1038/sj.ejhg.5200372
By:
- Pang, Joanna;
- Allotey, Rebecca;
- Wadia, Noshir;
- Sasaki, Hidenao;
- Bindoff, Laurence;
- Chamberlain, Susan
Publication type:
Article
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Published in:
Kidney Diseases, 2022, v. 8, n. 2, p. 148, doi. 10.1159/000521148
By:
- Parasyri, Maria;
- Brandström, Per;
- Uusimaa, Johanna;
- Ostergaard, Elsebet;
- Hikmat, Omar;
- Isohanni, Pirjo;
- Naess, Karin;
- de Coo, I.F.M.;
- Nascimento Osorio, Andrés;
- Nuutinen, Matti;
- Lindberg, Christopher;
- Bindoff, Laurence A.;
- Tulinius, Már;
- Darin, Niklas;
- Sofou, Kalliopi
Publication type:
Article
Hallmark Molecular and Pathological Features of POLG Disease are Recapitulated in Cerebral Organoids.
Published in:
Advanced Science, 2024, v. 11, n. 18, p. 1, doi. 10.1002/advs.202307136
By:
- Chen, Anbin;
- Yangzom, Tsering;
- Hong, Yu;
- Lundberg, Bjørn Christian;
- Sullivan, Gareth John;
- Tzoulis, Charalampos;
- Bindoff, Laurence A.;
- Liang, Kristina Xiao
Publication type:
Article
Future of Neurologic Examination in Clinical Practice.
Published in:
JAMA Neurology, 2018, v. 75, n. 3, p. 382, doi. 10.1001/jamaneurol.2017.4995
By:
- Bindoff, Laurence
Publication type:
Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Published in:
JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
By:
- Sommerville, Ewen W.;
- Yi Shiau Ng;
- Alston, Charlotte L.;
- Dallabona, Cristina;
- Gilberti, Micol;
- Langping He;
- Knowles, Charlotte;
- Chin, Sophie L.;
- Schaefer, Andrew M.;
- Falkous, Gavin;
- Murdoch, David;
- Longman, Cheryl;
- de Visser, Marianne;
- Bindoff, Laurence A.;
- Rawles, John M.;
- Dean, John C. S.;
- Petty, Richard K.;
- Farrugia, Maria E.;
- Haack, Tobias B.;
- Prokisch, Holger
Publication type:
Article
Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts.
Published in:
Cellular & Molecular Life Sciences, 2020, v. 77, n. 6, p. 1115, doi. 10.1007/s00018-019-03209-y
By:
- Zhang, Zhuoyuan;
- Gao, Zhenjie;
- Rajthala, Saroj;
- Sapkota, Dipak;
- Dongre, Harsh;
- Parajuli, Himalaya;
- Suliman, Salwa;
- Das, Ridhima;
- Li, Longjiang;
- Bindoff, Laurence A.;
- Costea, Daniela Elena;
- Liang, Xiao
Publication type:
Article
Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 8, p. 2393, doi. 10.1093/brain/awt103
By:
- Tzoulis, Charalampos;
- Tran, Gia Tuong;
- Schwarzlmüller, Thomas;
- Specht, Karsten;
- Haugarvoll, Kristoffer;
- Balafkan, Novin;
- Lilleng, Peer K.;
- Miletic, Hrvoje;
- Biermann, Martin;
- Bindoff, Laurence A.
Publication type:
Article
Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3627, doi. 10.1093/brain/aws223
By:
- Tzoulis, Charalampos;
- Bindoff, Laurence A.
Publication type:
Article
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3614, doi. 10.1093/brain/aws298
By:
- Neeve, Vivienne C. M.;
- Samuels, David C.;
- Bindoff, Laurence A.;
- van den Bosch, Bianca;
- Van Goethem, Gert;
- Smeets, Hubert;
- Lombès, Anne;
- Jardel, Claude;
- Hirano, Michio;
- DiMauro, Salvatore;
- De Vries, Maaike;
- Smeitink, Jan;
- Smits, Bart W.;
- de Coo, Ireneus F. M.;
- Saft, Carsten;
- Klopstock, Thomas;
- Keiling, Bianca-Cortina;
- Czermin, Birgit;
- Abicht, Angela;
- Lochmüller, Hanns
Publication type:
Article
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1428, doi. 10.1093/brain/awq067
By:
- Tzoulis, Charalampos;
- Neckelmann, Gesche;
- Mørk, Sverre J.;
- Engelsen, Bernt E.;
- Viscomi, Carlo;
- Moen, Gunnar;
- Ersland, Lars;
- Zeviani, Massimo;
- Bindoff, Laurence A.
Publication type:
Article
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Published in:
Brain: A Journal of Neurology, 2008, v. 131, n. 3, p. 818, doi. 10.1093/brain/awn007
By:
- Bernt A. Engelsen;
- Charalampos Tzoulis;
- Bjørn Karlsen;
- Atle Lillebø;
- Liv M. Lægreid;
- Jan Aasly;
- Massimo Zeviani;
- Laurence A. Bindoff
Publication type:
Article
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1685, doi. 10.1093/brain/awl097
By:
- Charalampos Tzoulis;
- Bernt A. Engelsen;
- Wenche Telstad;
- Jan Aasly;
- Massimo Zeviani;
- Synnøve Winterthun;
- Gianfrancesco Ferrari;
- Jan H. Aarseth;
- Laurence A. Bindoff
Publication type:
Article
Deoxyribonucleoside treatment rescues EtBr‐induced mtDNA depletion in iPSC‐derived neural stem cells with POLG mutations.
Published in:
FASEB Journal, 2023, v. 37, n. 9, p. 1, doi. 10.1096/fj.202300650RR
By:
- Kristiansen, Cecilie Katrin;
- Furriol, Jessica;
- Chen, Anbin;
- Sullivan, Gareth John;
- Bindoff, Laurence A.;
- Liang, Kristina Xiao
Publication type:
Article
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Published in:
1994
By:
- Jackson, Margaret J.;
- Bindoff, Laurence A.;
- Weber, Katharina;
- Wilson, Jonathan N.;
- Ince, Paul;
- Alberti, K. George M. M.;
- Turnbull, Douglass M.;
- Jackson, M J;
- Bindoff, L A;
- Weber, K;
- Wilson, J N;
- Ince, P;
- Alberti, K G;
- Turnbull, D M
Publication type:
journal article
Elevated cerebrospinal fluid protein in POLG‐related epilepsy: Diagnostic and prognostic implications.
Published in:
Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1595, doi. 10.1111/epi.14459
By:
- Hikmat, Omar;
- Naess, Karin;
- Engvall, Martin;
- Klingenberg, Claus;
- Rasmussen, Magnhild;
- Tallaksen, Chantal M. E.;
- Brodtkorb, Eylert;
- Fiskerstrand, Torunn;
- Isohanni, Pirjo;
- Uusimaa, Johanna;
- Darin, Niklas;
- Rahman, Shamima;
- Bindoff, Laurence A.
Publication type:
Article
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1819, doi. 10.1002/acn3.52088
By:
- Kristensen, Erle;
- Mathisen, Linda;
- Berland, Siren;
- Klingenberg, Claus;
- Brodtkorb, Eylert;
- Rasmussen, Magnhild;
- Tangeraas, Trine;
- Bliksrud, Yngve T.;
- Rahman, Shamima;
- Bindoff, Laurence Albert;
- Hikmat, Omar
Publication type:
Article
The impact of gender, puberty, and pregnancy in patients with POLG disease.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199
By:
- Hikmat, Omar;
- Naess, Karin;
- Engvall, Martin;
- Klingenberg, Claus;
- Rasmussen, Magnhild;
- Tallaksen, Chantal M. E.;
- Samsonsen, Christian;
- Brodtkorb, Eylert;
- Ostergaard, Elsebet;
- de Coo, Rene;
- Pias‐Peleteiro, Leticia;
- Isohanni, Pirjo;
- Uusimaa, Johanna;
- Darin, Niklas;
- Rahman, Shamima;
- Bindoff, Laurence A.
Publication type:
Article
Using urine to diagnose large‐scale mtDNA deletions in adult patients.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1318, doi. 10.1002/acn3.51119
By:
- Varhaug, Kristin N.;
- Nido, Gonzalo S.;
- Coo, Irenaeus;
- Isohanni, Pirjo;
- Suomalainen, Anu;
- Tzoulis, Charalampos;
- Knappskog, Per;
- Bindoff, Laurence A.
Publication type:
Article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 757, doi. 10.1002/acn3.51042
By:
- Murphy, Lindsay B.;
- Schreiber‐Katz, Olivia;
- Rafferty, Karen;
- Robertson, Agata;
- Topf, Ana;
- Willis, Tracey A.;
- Heidemann, Marcel;
- Thiele, Simone;
- Bindoff, Laurence;
- Laurent, Jean‐Pierre;
- Lochmüller, Hanns;
- Mathews, Katherine;
- Mitchell, Claudia;
- Stevenson, John Herbert;
- Vissing, John;
- Woods, Lacey;
- Walter, Maggie C.;
- Straub, Volker
Publication type:
Article

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