Understanding the Epilepsy in POLG Related Disease

by Omar Hikmat, Tom Eichele, Charalampos Tzoulis, Laurence A. Bindoff
Published 2017-08-01

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

by Dario Brunetti, Alessia Catania, Carlo Viscomi, Michela Deleidi, Laurence A. Bindoff, Daniele Ghezzi, Massimo Zeviani
Published 2021-07-01

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

by Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff
Published 2013-01-01

Fever-related ataxia: a case report of CAPOS syndrome

by Ida Stenshorne, Magnhild Rasmussen, Panagiotis Salvanos, Chantal M. E. Tallaksen, Laurence A. Bindoff, Jeanette Koht
Published 2019-02-01

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

by Lynn Marquardt, Tom Eichele, Laurence A. Bindoff, Henning Kristian Olberg, Gyri Veiby, Heike Eichele, Isabella Kusztrits, Marco Hirnstein
Published 2019-01-01

Using urine to diagnose large‐scale mtDNA deletions in adult patients

by Kristin N. Varhaug, Gonzalo S. Nido, Irenaeus deCoo, Pirjo Isohanni, Anu Suomalainen, Charalampos Tzoulis, Per Knappskog, Laurence A. Bindoff
Published 2020-08-01

Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

by Yasaman Pakdaman, Yasaman Pakdaman, Yasaman Pakdaman, Elsa Denker, Eirik Austad, William H. J. Norton, Hans O. Rolfsnes, Laurence A. Bindoff, Laurence A. Bindoff, Charalampos Tzoulis, Charalampos Tzoulis, Ingvild Aukrust, Ingvild Aukrust, Per M. Knappskog, Per M. Knappskog, Stefan Johansson, Stefan Johansson, Ståle Ellingsen
Published 2021-09-01

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

by Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M Knappskog, Laurence A Bindoff, Charalampos Tzoulis
Published 2016-01-01

Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease

by Christian Dölle, Irene Flønes, Gonzalo S. Nido, Hrvoje Miletic, Nelson Osuagwu, Stine Kristoffersen, Peer K. Lilleng, Jan Petter Larsen, Ole-Bjørn Tysnes, Kristoffer Haugarvoll, Laurence A. Bindoff, Charalampos Tzoulis
Published 2016-11-01

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

by Anbin Chen, Anbin Chen, Anbin Chen, Anbin Chen, Cecilie Katrin Kristiansen, Cecilie Katrin Kristiansen, Yu Hong, Yu Hong, Atefeh Kianian, Evandro Fei Fang, Evandro Fei Fang, Gareth John Sullivan, Gareth John Sullivan, Gareth John Sullivan, Gareth John Sullivan, Jian Wang, Jian Wang, Jian Wang, Xingang Li, Xingang Li, Laurence A. Bindoff, Laurence A. Bindoff, Kristina Xiao Liang, Kristina Xiao Liang
Published 2021-09-01

Consensus-based statements for the management of mitochondrial stroke-like episodes [version 1; peer review: 2 approved]

by Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull
Published 2019-12-01

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

by Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
Published 2017-01-01

Genetic Dominant Variants in <i>STUB1,</i> Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

by Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Ståle Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust
Published 2021-05-01

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

by Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff
Published 2020-10-01

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

by Kristina Xiao Liang, Cecilie Katrin Kristiansen, Sepideh Mostafavi, Guro Helén Vatne, Gina Alien Zantingh, Atefeh Kianian, Charalampos Tzoulis, Lena Elise Høyland, Mathias Ziegler, Roberto Megias Perez, Jessica Furriol, Zhuoyuan Zhang, Novin Balafkan, Yu Hong, Richard Siller, Gareth John Sullivan, Laurence A Bindoff
Published 2020-10-01

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

by John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor
Published 2014-06-01

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

by Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Published 2021-05-01