Search Results - "Magnusson, Olafur Thor"

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome by Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, Sulem, Patrick

“…Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by…”
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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia by Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul, Sarkozy, Anna, Muntoni, Francesco, Hughes, Imelda, Cecconi, Antonella, Hajnóczky, György, Donati, Alice, Mercuri, Eugenio, Zeviani, Massimo, Ferlini, Alessandra, Ghezzi, Daniele

“…We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an…”
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Characterization of radical intermediates in the reactions of lysine 2,3-aminomutase and diol dehydrase by Magnusson, Olafur Thor

“…S-Adenosylmethionine (SAM) and adenosylcobalamin (AdoCbl) are coenzymes used by certain enzymes that facilitate radical chemistry. Both coenzymes are thought…”
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