I agree that this site is using cookies. You can find further informations here.
X
Ygberg, Sofia
53  results:
Search for persons X
?
1

Novel Synonymous and Deep Intronic Variants Causing Primary..:

Bruhn, Helene ; Naess, Karin ; Ygberg, Sofia...
Human Mutation.  2024 (2024)  - p. 1-16 , 2024
Link: https://doi.org/10.1155/..
 
?
2

Human In Vitro Models of Neuroenergetics and Neurometabolic..:

Rogal, Julia ; Zamproni, Laura Nicoleti ; Nikolakopoulou, Polyxeni...
Stem Cells Translational Medicine.  13 (2024)  6 - p. 505-514 , 2024
Link: https://doi.org/10.1093/..
 
?
3

Neurocognitive outcome in children and adolescents followin..:

Bergman, Kristian ; Fowler, Åsa ; Ygberg, Sofia..
Child Neuropsychology.  30 (2023)  6 - p. 882-899 , 2023
Link: https://doi.org/10.1080/..
 
?
4

Bi-allelic loss-of-function variants in PPFIBP1 cause a neu..:

Rosenhahn, Erik ; O'Brien, Thomas J. ; Zaki, Maha S....
The American Journal of Human Genetics.  109 (2022)  8 - p. 1421-1435 , 2022
Link: https://doi.org/10.1016/..
 
?
5

The SwedishCOG6‐CDGexperience and a comprehensive literatur..:

Xia, Zhi‐Jie ; Ng, Bobby G. ; Jennions, Elizabeth...
JIMD Reports.  64 (2022)  1 - p. 79-89 , 2022
Link: https://doi.org/10.1002/..
 
?
6

Case report: Fatal outcome of pyridoxine-dependent epilepsy..:

Aquilano, Giulia ; Linnér, Agnes ; Ygberg, Sofia..
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
?
7

A Missense Variant in PDK1 Associated with Severe Neurodeve..:

Vaz, Raquel ; Wincent, Josephine ; Elfissi, Najla...
Biomedicines.  10 (2022)  12 - p. 3171 , 2022
Link: https://doi.org/10.3390/..
 
?
8

Expanding the phenotype of the recurrent truncating eIF2γ p..:

Ygberg, Sofia ; Lindstrand, Anna
Clinical Case Reports.  10 (2022)  6 - p. , 2022
Link: https://doi.org/10.1002/..
 
?
9

A missense mutation converts the Na+,K+-ATPase into an ion ..:

Ygberg, Sofia ; Akkuratov, Evgeny E. ; Howard, Rebecca J....
Journal of Biological Chemistry.  297 (2021)  6 - p. 101355 , 2021
Link: https://doi.org/10.1016/..
 
?
10

Post‐encephalitic epilepsy in childhood: results from a pro..:

Cooray, Gerald ; Ygberg, Sofia ; Fowler, Åsa.
Epileptic Disorders.  23 (2021)  1 - p. 133-142 , 2021
Link: https://doi.org/10.1684/..
 
?
11

Authors' reply regarding "On diagnosing and treating PANS/P..:

Pfeiffer, Helle Cecilie Viekilde ; De Visscher, Caroline ; Gjone, Inger Helene...
Acta Paediatrica.  110 (2021)  12 - p. 3390-3391 , 2021
Link: https://doi.org/10.1111/..
 
?
12

Altered cytokine levels in cerebrospinal fluid following ke..:

Wickström, Ronny ; Ygberg, Sofia ; Lindefeldt, Marie.
Epilepsy Research.  177 (2021)  - p. 106775 , 2021
Link: https://doi.org/10.1016/..
 
?
13

Age-related changes in the inflammatory responses to viral ..:

Ygberg, Sofia ; Fowler, Åsa ; Wickström, Ronny
Pediatric Research.  91 (2021)  1 - p. 204-208 , 2021
Link: https://doi.org/10.1038/..
 
?
14

Clinical guidance for diagnosis and management of suspected..:

Pfeiffer, Helle Cecilie Viekilde ; Wickstrom, Ronny ; Skov, Liselotte...
Acta Paediatrica.  110 (2021)  12 - p. 3153-3160 , 2021
Link: https://doi.org/10.1111/..
 
?
15

The Kynurenine Pathway is Differentially Activated in Child..:

Wickström, Ronny ; Fowler, Åsa ; Goiny, Michel...
Microorganisms.  9 (2021)  2 - p. 322 , 2021
Link: https://doi.org/10.3390/..
 
1-15