A family with atypical CADASIL

por Vedeler, Christian, Bindoff, Laurence
Publicado 2011

3,3′-Diaminobenzidine staining interferes with PCR-based DNA analysis

por Dölle, Christian, Bindoff, Laurence A., Tzoulis, Charalampos
Publicado 2018

Rhabdomyolysis after group C streptococcal infection

por Nordal, Hilde Haugedal, Kittang, Bård Reiakvam, Bindoff, Laurence A.
Publicado 2010

Understanding the Epilepsy in POLG Related Disease

por Hikmat, Omar, Eichele, Tom, Tzoulis, Charalampos, Bindoff, Laurence A.
Publicado 2017

Musculoskeletal Chronic Graft versus Host Disease—A Rare Complication to Allogeneic Hematopoietic Stem Cell Transplant: A Case-Based Report and Review of the Literature

por Kvinge, Alexander Dåtland, Kvammen, Tobias, Miletic, Hrvoje, Bindoff, Laurence Albert, Reikvam, Håkon
Publicado 2022

Serum biomarkers in primary mitochondrial disorders

por Varhaug, Kristin N, Hikmat, Omar, Nakkestad, Hanne Linda, Vedeler, Christian A, Bindoff, Laurence A
Publicado 2021

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

por Tzoulis, Charalampos, Johansson, Stefan, Haukanes, Bjørn Ivar, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A.
Publicado 2013

Fever-related ataxia: a case report of CAPOS syndrome

por Stenshorne, Ida, Rasmussen, Magnhild, Salvanos, Panagiotis, Tallaksen, Chantal M. E., Bindoff, Laurence A., Koht, Jeanette
Publicado 2019

Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration

por Brunetti, Dario, Catania, Alessia, Viscomi, Carlo, Deleidi, Michela, Bindoff, Laurence A., Ghezzi, Daniele, Zeviani, Massimo
Publicado 2021

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

por Balafkan, Novin, Mostafavi, Sepideh, Schubert, Manja, Siller, Richard, Liang, Kristina Xiao, Sullivan, Gareth, Bindoff, Laurence A.
Publicado 2020

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

por Marquardt, Lynn, Eichele, Tom, Bindoff, Laurence A., Olberg, Henning Kristian, Veiby, Gyri, Eichele, Heike, Kusztrits, Isabella, Hirnstein, Marco
Publicado 2019

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

por Varhaug, Kristin N., Nido, Gonzalo S., de Coo, Irenaeus, Isohanni, Pirjo, Suomalainen, Anu, Tzoulis, Charalampos, Knappskog, Per, Bindoff, Laurence A.
Publicado 2020

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 disturb...

por Berland, Siren, Toft-Bertelsen, Trine L., Aukrust, Ingvild, Byska, Jan, Vaudel, Marc, Bindoff, Laurence A., MacAulay, Nanna, Houge, Gunnar
Publicado 2018

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

por Mostafavi, Sepideh, Balafkan, Novin, Pettersen, Ina Katrine Nitschke, Nido, Gonzalo S., Siller, Richard, Tzoulis, Charalampos, Sullivan, Gareth J., Bindoff, Laurence A.
Publicado 2021

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

por Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A
Publicado 2013

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

por Tzoulis, Charalampos, Vedeler, Christian, Haugen, Mette, Storstein, Anette, Tran, Gia Tuong, Gjerde, Ivar Otto, Biermann, Martin, Schwarzlmüller, Thomas, Bindoff, Laurence A
Publicado 2013

Neurofilament light chain predicts disease activity in relapsing-remitting MS

por Varhaug, Kristin N., Barro, Christian, Bjørnevik, Kjetil, Myhr, Kjell-Morten, Torkildsen, Øivind, Wergeland, Stig, Bindoff, Laurence A., Kuhle, Jens, Vedeler, Christian
Publicado 2017

Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations

por Vesterhus, Mette, Ræder, Helge, Aurlien, Harald, Gjesdal, Clara G., Bredrup, Cecilie, Holm, Pål I., Molven, Anders, Bindoff, Laurence, Berstad, Arnold, Njølstad, Pål R.
Publicado 2008

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

por Yu-Wai-Man, Patrick, Sitarz, Kamil S., Samuels, David C., Griffiths, Philip G., Reeve, Amy K., Bindoff, Laurence A., Horvath, Rita, Chinnery, Patrick F.
Publicado 2010

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

por Chen, Anbin, Kristiansen, Cecilie Katrin, Høyland, Lena Elise, Ziegler, Mathias, Wang, Jian, Sullivan, Gareth John, Li, Xingang, Bindoff, Laurence A., Liang, Kristina Xiao
Publicado 2022