A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype
Jennions, E., Olsson‐Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A., Hedberg‐Oldfors, C.
Published in American journal of medical genetics. Part A (01.10.2024)
Published in American journal of medical genetics. Part A (01.10.2024)
Get full text
Journal Article
Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease
Savvidou, A., Jennions, E., Wikström, S., Olsson-Engman, M., Sofou, K., Darin, N.
Published in European journal of paediatric neurology (01.07.2022)
Published in European journal of paediatric neurology (01.07.2022)
Get full text
Journal Article
89 Targeting nuclear factor-kappa B in malignant pleural mesothelioma
Gately, K, Jennions, E, Godwin, P, Barr, M.P, Heavey, S, Takiguchi, Y, Umezawa, K, Edwards, J.G, Gray, S.G
Published in Lung cancer (Amsterdam, Netherlands) (2013)
Published in Lung cancer (Amsterdam, Netherlands) (2013)
Get full text
Journal Article
535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant
Oldfors, C., Jennions, E., Olsson-Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A.
Published in Neuromuscular disorders : NMD (01.10.2024)
Published in Neuromuscular disorders : NMD (01.10.2024)
Get full text
Journal Article
1531P - Nuclear Factor-Kappa B as a Molecular Target in Malignant Pleural Mesothelioma
Gately, K.A., Jennions, E., Godwin, P., Barr, M., Heavey, S., Umezawa, K., Edwards, J., Gray, S.G., O'Byrne, K.J.
Published in Annals of oncology (01.09.2012)
Published in Annals of oncology (01.09.2012)
Get full text
Journal Article
Nuclear Factor-Kappa B as a Molecular Target in Malignant Pleural Mesothelioma
Gately, K.A., Jennions, E., Godwin, P., Barr, M., Heavey, S., Umezawa, K., Edwards, J., Gray, S.G., O'Byrne, K.J.
Published in Annals of oncology (01.09.2012)
Published in Annals of oncology (01.09.2012)
Get full text
Journal Article
The Swedish COG6‐CDG experience and a comprehensive literature review
Xia, Zhi‐Jie, Ng, Bobby G., Jennions, Elizabeth, Blomqvist, Maria, Sandqvist Wiklund, Anneli, Hedberg‐Oldfors, Carola, Gonzalez, Carlos Rodriguez, Freeze, Hudson H., Ygberg, Sofia, Eklund, Erik A.
Published in JIMD Reports (01.01.2023)
Published in JIMD Reports (01.01.2023)
Get full text
Journal Article
Book Chapter
Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study
Shahim, Pashtun, MD, Darin, Niklas, MD, PhD, Andreasson, Ulf, PhD, Blennow, Kaj, MD, PhD, Jennions, Elizabeth, MD, Lundgren, Johan, MD, PhD, Månsson, Jan-Eric, MD, PhD, Naess, Karin, MD, Törnhage, Carl-Johan, MD, PhD, Zetterberg, Henrik, MD, PhD, Mattsson, Niklas, MD, PhD
Published in Pediatric neurology (01.07.2013)
Published in Pediatric neurology (01.07.2013)
Get full text
Journal Article