Search Results - "Jennions, E."

A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype by Jennions, E., Olsson‐Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A., Hedberg‐Oldfors, C.

“…Cytochrome c oxidase (COX) deficiency is a phenotypically diverse group of diseases caused by variants in over 30 genes. Biallelic pathogenic variants in…”
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Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease by Savvidou, A., Jennions, E., Wikström, S., Olsson-Engman, M., Sofou, K., Darin, N.

“…CLN3 disease (MIM# 204200), the most prevalent of the neuronal ceroid lipofuscinoses (NCL), is an autosomal recessive disorder with juvenile onset…”
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89 Targeting nuclear factor-kappa B in malignant pleural mesothelioma by Gately, K, Jennions, E, Godwin, P, Barr, M.P, Heavey, S, Takiguchi, Y, Umezawa, K, Edwards, J.G, Gray, S.G

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535P Cytochrome c oxidase (COX) deficiency due to a novel homozygous COX6B1 pathogenic missense variant by Oldfors, C., Jennions, E., Olsson-Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A.

“…We present a 7-year-old boy who developed acute cough, headache, and abdominal pain without fever. After two days he developed generalized weakness, a wide…”
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P.38 A novel splice site variant in a patient with spinal muscular atrophy and hypoplastic left heart syndrome by Hedberg-Oldfors, C., Jennions, E., Visuttijai, K., Gudnason, J., Oldfors, A.

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Nuclear Factor-Kappa B as a Molecular Target in Malignant Pleural Mesothelioma by Gately, K.A., Jennions, E., Godwin, P., Barr, M., Heavey, S., Umezawa, K., Edwards, J., Gray, S.G., O'Byrne, K.J.

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1531P - Nuclear Factor-Kappa B as a Molecular Target in Malignant Pleural Mesothelioma by Gately, K.A., Jennions, E., Godwin, P., Barr, M., Heavey, S., Umezawa, K., Edwards, J., Gray, S.G., O'Byrne, K.J.

“…Malignant pleural mesothelioma (MPM) is an aggressive inflammatory cancer associated with exposure to asbestos. Currently rates of MPM are rising and estimates…”
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The Swedish COG6‐CDG experience and a comprehensive literature review by 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.

“…Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical…”
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Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study by 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

“…Abstract Background Cerebrospinal fluid (CSF) biomarkers reflecting neuronal and astroglial injury, such as total tau (T-tau), glial fibrillary acidic protein…”
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Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study (S25.002) by Shahim, Pashtun, Darin, Niklas, Andreasson, Ulf, Blennow, Kaj, Jennions, Elizabeth, Lundgren, Johan, Månsson, Jan-Eric, Naess, Karin, Törnhage, Carl-Johan, Zetterberg, Henrik, Mattsson, Niklas

“…Abstract only…”
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