A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy
Vaz, Raquel, Wincent, Josephine, Elfissi, Najla, Rosengren Forsblad, Kristina, Pettersson, Maria, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Lindstrand, Anna, Ygberg, Sofia
Published in Biomedicines (07.12.2022)
Published in Biomedicines (07.12.2022)
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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)
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Book Chapter
Thioredoxin 1 Participates in the Activity of the Salmonella enterica Serovar Typhimurium Pathogenicity Island 2 Type III Secretion System
NEGREA, Aurel, BJUR, Eva, PUIAC, Speranta, ERIKSSON YGBERG, Sofia, ASLUND, Fredrik, RHEN, Mikael
Published in Journal of Bacteriology (01.11.2009)
Published in Journal of Bacteriology (01.11.2009)
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Journal Article
Salicylidene Acylhydrazides That Affect Type III Protein Secretion in Salmonella enterica Serovar Typhimurium
NEGREA, Aurel, BJUR, Eva, YGBERG, Sofia Eriksson, ELOFSSON, Mikael, WOLF-WATZ, Hans, RHEN, Mikael
Published in Antimicrobial Agents and Chemotherapy (01.08.2007)
Published in Antimicrobial Agents and Chemotherapy (01.08.2007)
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Journal Article
FasL and TRAIL Induce Epidermal Apoptosis and Skin Ulceration Upon Exposure to Leishmania major
Eidsmo, Liv, Fluur, Caroline, Rethi, Bence, Eriksson Ygberg, Sofia, Ruffin, Nicolas, De Milito, Angelo, Akuffo, Hannah, Chiodi, Francesca
Published in The American journal of pathology (2007)
Published in The American journal of pathology (2007)
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Thioredoxin 1 Promotes Intracellular Replication and Virulence of Salmonella enterica Serovar Typhimurium
Bjur, Eva, Eriksson-Ygberg, Sofia, Åslund, Fredrik, Rhen, Mikael
Published in Infection and Immunity (01.09.2006)
Published in Infection and Immunity (01.09.2006)
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Pilus adhesin RrgA interacts with complement receptor 3, thereby affecting macrophage function and systemic pneumococcal disease
Orrskog, Sofia, Rounioja, Samuli, Spadafina, Tiziana, Gallotta, Marilena, Norman, Martin, Hentrich, Karina, Fälker, Stefan, Ygberg-Eriksson, Sofia, Hasenberg, Mike, Johansson, Björn, Uotila, Liisa M, Gahmberg, Carl G, Barocchi, Michèle, Gunzer, Matthias, Normark, Staffan, Henriques-Normark, Birgitta
Published in mBio (01.01.2013)
Published in mBio (01.01.2013)
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Polynucleotide Phosphorylase Negatively Controls spv Virulence Gene Expression in Salmonella enterica
Ygberg, Sofia Eriksson, Clements, Mark O, Rytkönen, Anne, Thompson, Arthur, Holden, David W, Hinton, Jay C. D, Rhen, Mikael
Published in Infection and Immunity (01.02.2006)
Published in Infection and Immunity (01.02.2006)
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H, Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Published in Genome medicine (17.03.2021)
Published in Genome medicine (17.03.2021)
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Altered cytokine levels in cerebrospinal fluid following ketogenic diet of children with refractory epilepsy
Wickström, Ronny, Ygberg, Sofia, Lindefeldt, Marie, Dahlin, Maria
Published in Epilepsy research (01.11.2021)
Published in Epilepsy research (01.11.2021)
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Neurocognitive outcome in children and adolescents following infectious encephalitis
Bergman, Kristian, Fowler, Åsa, Ygberg, Sofia, Lovio, Riikka, Wickström, Ronny
Published in Child neuropsychology (17.08.2024)
Published in Child neuropsychology (17.08.2024)
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Journal Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M B, Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel
Published in Genome medicine (07.11.2019)
Published in Genome medicine (07.11.2019)
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