Sofia Ygberg

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

Article: JIMD REPORTS. 2023;64(1):79-89

The Swedish COG6-CDG experience and a comprehensive literature review.

Xia Z-J; Ng BG; Jennions E; Blomqvist M; Sandqvist Wiklund A; Hedberg-Oldfors C; Gonzalez CR; Freeze HH; Ygberg S; Eklund EA
Article: BIOMEDICINES. 2022;10(12):3171

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.

Vaz R; Wincent J; Elfissi N; Rosengren Forsblad K; Pettersson M; Naess K; Wedell A; Wredenberg A; Lindstrand A; Ygberg S
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2022;109(8):1421-1435

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Rosenhahn E; O'Brien TJ; Zaki MS; Sorge I; Wieczorek D; Rostasy K; Vitobello A; Nambot S; Alkuraya FS; Hashem MO; Alhashem A; Tabarki B; Alamri AS; Al Safar AH; Bubshait DK; Alahmady NF; Gleeson JG; Abdel-Hamid MS; Lesko N; Ygberg S; Correia SP; Wredenberg A; Alavi S; Seyedhassani SM; Ebrahimi Nasab M; Hussien H; Omar TEI; Harzallah I; Touraine R; Tajsharghi H; Morsy H; Houlden H; Shahrooei M; Ghavideldarestani M; Abdel-Salam GMH; Torella A; Zanobio M; Terrone G; Brunetti-Pierri N; Omrani A; Hentschel J; Lemke JR; Sticht H; Abou Jamra R; Brown AEX; Maroofian R; Platzer K
Article: FRONTIERS IN PEDIATRICS. 2022;10:940103

Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse.

Aquilano G; Linnér A; Ygberg S; Stödberg T; Henckel E
Article: PEDIATRIC RESEARCH. 2022;91(1):204-208

Age-related changes in the inflammatory responses to viral infections in the central nervous system during childhood.

Ygberg S; Fowler Å; Wickström R
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.

Ygberg S; Akkuratov EE; Howard RJ; Taylan F; Jans DC; Mahato DR; Katz A; Kinoshita PF; Portal B; Nennesmo I; Lindskog M; Karlish SJD; Andersson M; Lindstrand A; Brismar H; Aperia A
Article: EPILEPSY RESEARCH. 2021;177:106775

Altered cytokine levels in cerebrospinal fluid following ketogenic diet of children with refractory epilepsy.

Wickström R; Ygberg S; Lindefeldt M; Dahlin M
Article: GENOME MEDICINE. 2021;13(1):40

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Article: MICROORGANISMS. 2021;9(2):322

The Kynurenine Pathway is Differentially Activated in Children with Lyme Disease and Tick-Borne Encephalitis.

Wickström R; Fowler Å; Goiny M; Millischer V; Ygberg S; Schwieler L
Article: EPILEPTIC DISORDERS. 2021;23(1):133-142

Post-encephalitic epilepsy in childhood: results from a prospective cohort study.

Cooray G; Ygberg S; Fowler Å; Wickström R
Article: PEDIATRIC INFECTIOUS DISEASE JOURNAL. 2020;39(12):e417-e422

Prospective Evaluation of Childhood Encephalitis: Predisposing Factors, Prevention and Outcome.

Fowler Å; Ygberg S; Svensson E; Bergman K; Cooray G; Wickström R
Article: PEDIATRIC INFECTIOUS DISEASE JOURNAL. 2020;39(3):239-243

The Cerebrospinal Fluid Interleukin-6/Interleukin-10 Ratio Differentiates Pediatric Tick-borne Infections.

Ygberg S; Fowler Å; Bogdanovic G; Wickström R
Article: GENOME MEDICINE. 2019;11(1):68

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 A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Article: BRAIN. 2017;140(10):2610-2622

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara D; Timms AE; Gripp K; Baker L; Park K; Collins S; Cheng C; Stewart F; Mehta SG; Saggar A; Sztriha L; Zombor M; Caluseriu O; Mesterman R; Van Allen MI; Jacquinet A; Ygberg S; Bernstein JA; Wenger AM; Guturu H; Bejerano G; Gomez-Ospina N; Lehman A; Alfei E; Pantaleoni C; Conti V; Guerrini R; Moog U; Graham JM; Hevner R; Dobyns WB; O'Driscoll M; Mirzaa GM
Article: PEDIATRIC INFECTIOUS DISEASE JOURNAL. 2017;36(1):102-108

Assessment of Cytokine and Chemokine Signatures as Potential Biomarkers of Childhood Community-acquired Pneumonia Severity: A Nested Cohort Study in India.

Saghafian-Hedengren S; Mathew JL; Hagel E; Singhi S; Ray P; Ygberg S; Nilsson A
Article: JOURNAL OF CHILD NEUROLOGY. 2016;31(13):1450-1456

Cytokine and Chemokine Expression in CSF May Differentiate Viral and Autoimmune NMDAR Encephalitis in Children.

Ygberg S; Fowler Å; Wickström R
Article: PEDIATRIC INFECTIOUS DISEASE JOURNAL. 2016;35(9):961-966

Biomarkers in Cerebrospinal Fluid of Children With Tick-borne Encephalitis: Association With Long-term Outcome.

Fowler Å; Ygberg S; Bogdanovic G; Wickström R
Article: ACTA PAEDIATRICA. 2016;105(8):979-982

A ten-year retrospective case series of glucocorticoid treatment of bacterial meningitis in children.

Ygberg S; Brauner A; Chambers BJ; Wiklund C; Nilsson A
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2016;20(3):457-461

Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.

Ygberg S; Naess K; Eriksson M; Stranneheim H; Lesko N; Barbaro M; Wibom R; Wang C; Wedell A; Wickström R
Article: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2016;362:251-257

High-intensity resistance training in multiple sclerosis - An exploratory study of effects on immune markers in blood and cerebrospinal fluid, and on mood, fatigue, health-related quality of life, muscle strength, walking and cognition.

Kierkegaard M; Lundberg IE; Olsson T; Johansson S; Ygberg S; Opava C; Holmqvist LW; Piehl F
Article: JOURNAL OF GLOBAL HEALTH. 2015;5(2):050418-232

Etiology of community acquired pneumonia among children in India: prospective, cohort study.

Mathew JL; Singhi S; Ray P; Hagel E; Saghafian-Hedengren S; Bansal A; Ygberg S; Sodhi KS; Kumar BVR; Nilsson A
Article: MBIO. 2012;4(1):e00535-e00512

Pilus adhesin RrgA interacts with complement receptor 3, thereby affecting macrophage function and systemic pneumococcal disease.

Orrskog S; Rounioja S; Spadafina T; Gallotta M; Norman M; Hentrich K; Fälker S; Ygberg-Eriksson S; Hasenberg M; Johansson B; Uotila LM; Gahmberg CG; Barocchi M; Gunzer M; Normark S; Henriques-Normark B
Article: JOURNAL OF BACTERIOLOGY. 2009;191(22):6918-6927

Thioredoxin 1 participates in the activity of the Salmonella enterica serovar Typhimurium pathogenicity island 2 type III secretion system.

Negrea A; Bjur E; Puiac S; Ygberg SE; Aslund F; Rhen M
Article: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY. 2007;51(8):2867-2876

Salicylidene acylhydrazides that affect type III protein secretion in Salmonella enterica serovar typhimurium.

Negrea A; Bjur E; Ygberg SE; Elofsson M; Wolf-Watz H; Rhen M
Article: AMERICAN JOURNAL OF PATHOLOGY. 2007;170(1):227-239

FasL and TRAIL induce epidermal apoptosis and skin ulceration upon exposure to Leishmania major.

Eidsmo L; Fluur C; Rethi B; Eriksson Ygberg S; Ruffin N; De Milito A; Akuffo H; Chiodi F
Article: INFECTION AND IMMUNITY. 2006;74(9):5140-5151

Thioredoxin 1 promotes intracellular replication and virulence of Salmonella enterica serovar Typhimurium.

Bjur E; Eriksson-Ygberg S; Aslund F; Rhen M
Article: MICROBES AND INFECTION. 2006;8(7):1826-1838

The O-antigen affects replication of Salmonella enterica serovar Typhimurium in murine macrophage-like J774-A.1 cells through modulation of host cell nitric oxide production.

Bjur E; Eriksson-Ygberg S; Rhen M
Article: INFECTION AND IMMUNITY. 2006;74(2):1243-1254

Polynucleotide phosphorylase negatively controls spv virulence gene expression in Salmonella enterica.

Ygberg SE; Clements MO; Rytkönen A; Thompson A; Holden DW; Hinton JCD; Rhen M
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2005;102(34):12112-12116

Bacterial genome size reduction by experimental evolution.

Nilsson AI; Koskiniemi S; Eriksson S; Kugelberg E; Hinton JCD; Andersson DI
Article: CELLULAR MICROBIOLOGY. 2005;7(1):147-155

Components of the peptidoglycan-recycling pathway modulate invasion and intracellular survival of Salmonella enterica serovar Typhimurium.

Folkesson A; Eriksson S; Andersson M; Park JT; Normark S
Article: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY. 2003;47(12):3743-3749

Fusidic acid-resistant mutants of Salmonella enterica serovar Typhimurium with low fitness in vivo are defective in RpoS induction.

Macvanin M; Björkman J; Eriksson S; Rhen M; Andersson DI; Hughes D
Article: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2003;58(5):493-502

Nitric oxide produced by murine dendritic cells is cytotoxic for intracellular Salmonella enterica sv. Typhimurium.

Eriksson S; Chambers BJ; Rhen M
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2002;99(13):8784-8789

Polynucleotide phosphorylase is a global regulator of virulence and persistency in Salmonella enterica.

Clements MO; Eriksson S; Thompson A; Lucchini S; Hinton JCD; Normark S; Rhen M
Article: CELLULAR MICROBIOLOGY. 2000;2(3):239-250

Salmonella typhimurium mutants that downregulate phagocyte nitric oxide production.

Eriksson S; Björkman J; Borg S; Syk A; Pettersson S; Andersson DI; Rhen M
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Other: CLINICAL CASE REPORTS. 2022;10(6):e5989

Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome.

Ygberg S; Lindstrand A
Letter: ACTA PAEDIATRICA. 2021;110(12):3390-3391

Authors' reply regarding "On diagnosing and treating PANS/PANDAS: Questions from a patient support group".

Pfeiffer HCV; De Visscher C; Gjone IH; Ygberg S; Herner LB; Hesselmark E; Idring Nordstrom S; Sandvig I; Skov L; Sørensen CB; Lim M; Wickstrom R; Hedderly T; Debes NM
Review: ACTA PAEDIATRICA. 2021;110(12):3153-3160

Clinical guidance for diagnosis and management of suspected Pediatric Acute-onset Neuropsychiatric Syndrome in the Nordic countries.

Pfeiffer HCV; Wickstrom R; Skov L; Sørensen CB; Sandvig I; Gjone IH; Ygberg S; de Visscher C; Idring Nordstrom S; Herner LB; Hesselmark E; Hedderly T; Lim M; Debes NM
Review: ACTA PAEDIATRICA. 2012;101(2):120-127

The developing immune system - from foetus to toddler.

Ygberg S; Nilsson A
Review: CELLULAR MICROBIOLOGY. 2008;10(4):958-984

During infection of epithelial cells Salmonella enterica serovar Typhimurium undergoes a time-dependent transcriptional adaptation that results in simultaneous expression of three type 3 secretion systems.

Hautefort I; Thompson A; Eriksson-Ygberg S; Parker ML; Lucchini S; Danino V; Bongaerts RJM; Ahmad N; Rhen M; Hinton JCD
Review: CURRENT OPINION IN MICROBIOLOGY. 2004;7(3):277-282

Benefits and pitfalls of using microarrays to monitor bacterial gene expression during infection.

Hinton JCD; Hautefort I; Eriksson S; Thompson A; Rhen M
Review: MOLECULAR MICROBIOLOGY. 2003;47(1):103-118

Unravelling the biology of macrophage infection by gene expression profiling of intracellular Salmonella enterica.

Eriksson S; Lucchini S; Thompson A; Rhen M; Hinton JCD
Published conference paper: PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES. 2002;357(1423):887-893

Low-temperature sensors in bacteria.

Eriksson S; Hurme R; Rhen M
Review: ANNALS OF MEDICINE. 2001;33(3):178-185

Virulence gene regulation in Salmonella enterica.

Clements M; Eriksson S; Tezcan-Merdol D; Hinton JC; Rhen M
Review: CURRENT OPINION IN MICROBIOLOGY. 2000;3(1):60-64

Bacterial adaptation to host innate immunity responses.

Rhen M; Eriksson S; Pettersson S
Published conference paper: IMMUNOLOGY LETTERS. 1999;68(2-3):247-249

Novel Salmonella typhimurium properties in host--parasite interactions.

Borg S; Björkman J; Eriksson S; Syk A; Andersson DI; Schesser K; Rhen M; Pettersson S; French NS

Anställningar

Anknuten till Forskning, Medicinsk biokemi och biofysik, Karolinska Institutet, 2021-2024

Examina och utbildning

Läkarexamen, Karolinska Institutet, 2009
MEDICINE DOKTORSEXAMEN, Institutionen för mikrobiologi, tumör- och cellbiologi, Karolinska Institutet, 2003

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