Current Research Information SysTem In Norway
 
 

 English version


 
Hovedside
Forskningsresultater/NVI
Forskere
Prosjekter
Forskningsenheter
Logg inn
Om Cristin
 
 
   
Eksporter til


Viser treff 1-10 av 10

2018
1 Balafkan, Novin.
Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells. : University of Bergen 2018 (ISBN 978-82-308-3795-5)
UiB Untitled
 
2 Berland, Siren; Toft-Bertelsen, Trine; Aukrust, Ingvild; Byska, Jan; Vaudel, Marc; Bindoff, Laurence; MacAulay, Nanna; Houge, Gunnar.
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. Cold Spring Harbor Molecular Case Studies 2018 ;Volum 4.(1)
UiB Untitled
 
3 Bindoff, Laurence.
Future of neurologic examination in clinical practice. JAMA Neurology 2018 ;Volum 75.(3) s. 382-382
UiB HAUKELAND Untitled
 
4 Dölle, Christian; Bindoff, Laurence; Tzoulis, Charalampos.
3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific Reports 2018 ;Volum 8:1272. s. 1-8
UiB HAUKELAND Untitled
 
5 Hayhurst, Hannah; Anagnostou, Maria-Eleni; Bogle, Helen J.; Grady, John P.; Taylor, Robert W.; Bindoff, Laurence; McFarland, Robert; Turnbull, Douglass Matthew; Lax, Nichola Z..
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain Pathology 2018 s. 1-17
UiB HAUKELAND Untitled
 
6 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.
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia 2018 ;Volum 59.(8) s. 1595-1602
UiB HAUKELAND UiT UNN OUS UiO NTNU STO Untitled
 
7 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.
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 2018 s. 1-1
UiB HAUKELAND UiT UNN Untitled
 
8 Jensen, Synnøve; Arntzen, Kjell Arne; Ørstavik, Kristin; Rasmussen, Magnhild; Bindoff, Laurence.
Felles løft for pasienter med nevromuskulære sykdommer. Tidsskrift for Den norske legeforening 2018 ;Volum 138.(15) s. 1408-1409
UNN HAUKELAND OUS UiB Untitled
 
9 Kristiansen, Cecilie Katrin.
W748S POLG mutation induced mitochondrial changes in hiPSC-differentiated NSCs. : Klinisk institutt 1, Universitetet i Bergen 2018
UiB Untitled
 
10 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.
Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. Journal of Medical Genetics 2018 ;Volum 55.(1) s. 21-27
HAUKELAND UiB Untitled