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Sofou, Kalliopi
54
results:
Search for persons
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Format
Online (54)
Mediatypes
Articles (Online) (29)
OpenAccess-fulltext (25)
Languages
english (53)
french (1)
Sorted by: Relevance
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?
1
Respiratory comorbidities and treatments in Duchenne muscul..:
Wahlgren, Lisa
;
Kroksmark, Anna-Karin
;
Lindblad, Anders
..
Journal of Neurology. 271 (2024) 7 - p. 4300-4309 , 2024
Link:
https://doi.org/10.1007/..
?
2
Manifestations of X‐linked pyruvate dehydrogenase complex d..:
Savvidou, Antri
;
Sofou, Kalliopi
;
Eklund, Erik A.
..
European Journal of Neurology. 31 (2024) 7 - p. , 2024
Link:
https://doi.org/10.1111/..
?
3
Parental experiences of having a child with CLN3 disease (j..:
Krantz, Mattias
;
Malm, Emma
;
Darin, Niklas
...
Child: Care, Health and Development. 48 (2022) 5 - p. 842-851 , 2022
Link:
https://doi.org/10.1111/..
?
4
Renal Phenotype in Mitochondrial Diseases: A Multicenter St..:
Parasyri, Maria
;
Brandström, Per
;
Uusimaa, Johanna
...
Kidney Diseases. 8 (2022) 2 - p. 148-159 , 2022
Link:
https://doi.org/10.1159/..
?
5
Long term treatment with ataluren—the Swedish experience:
Michael, Eva
;
Sofou, Kalliopi
;
Wahlgren, Lisa
..
BMC Musculoskeletal Disorders. 22 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
6
Novel imaging findings in pyruvate dehydrogenase complex (P..:
Savvidou, Antri
;
Ivarsson, Liz
;
Naess, Karin
...
Journal of Inherited Metabolic Disease. 45 (2021) 2 - p. 248-263 , 2021
Link:
https://doi.org/10.1002/..
?
7
Bi‐allelic VPS16 variants limit HOPS/CORVET levels and caus..:
Sofou, Kalliopi
;
Meier, Kolja
;
Sanderson, Leslie E
...
EMBO Molecular Medicine. 13 (2021) 5 - p. , 2021
Link:
https://doi.org/10.15252..
?
8
One in five patients with Duchenne muscular dystrophy dies ..:
Wahlgren, Lisa
;
Kroksmark, Anna-Karin
;
Tulinius, Mar
.
European Journal of Epidemiology. 37 (2021) 2 - p. 147-156 , 2021
Link:
https://doi.org/10.1007/..
?
9
The phenotypic variability and natural history of NARS2 ass..:
Sofou, Kalliopi
;
Kollberg, Gittan
;
Hedberg-Oldfors, Carola
.
European Journal of Paediatric Neurology. 31 (2021) - p. 31-37 , 2021
Link:
https://doi.org/10.1016/..
?
10
Diagnostic value of serum biomarkers FGF21 and GDF15 compar..:
Lehtonen, Jenni M.
;
Auranen, Mari
;
Darin, Niklas
...
Journal of Inherited Metabolic Disease. 44 (2020) 2 - p. 469-480 , 2020
Link:
https://doi.org/10.1002/..
?
11
Prenatal onset of mitochondrial disease is associated with ..:
Sofou, Kalliopi
;
Hedberg-Oldfors, Carola
;
Kollberg, Gittan
...
Mitochondrion. 47 (2019) - p. 76-81 , 2019
Link:
https://doi.org/10.1016/..
?
12
KIF1A variants are a frequent cause of autosomal dominant h..:
Pennings, Maartje
;
Schouten, Meyke I.
;
van Gaalen, Judith
...
European Journal of Human Genetics. 28 (2019) 1 - p. 40-49 , 2019
Link:
https://doi.org/10.1038/..
?
13
Responding to feedback on the SITUPS mnemonic for medical s..:
Bry, Kristina
;
Sofou, Kalliopi
Acta Paediatrica. 109 (2019) 1 - p. 210-210 , 2019
Link:
https://doi.org/10.1111/..
?
14
Cerebrospinal fluid neurofilament light is associated with ..:
Sofou, Kalliopi
;
Shahim, Pashtun
;
Tulinius, Már
...
Mitochondrion. 46 (2019) - p. 228-235 , 2019
Link:
https://doi.org/10.1016/..
?
15
SITUPS: a new tool for oral case presentation in the paedia..:
Sofou, Kalliopi
;
Bry, Kristina
Acta Paediatrica. 108 (2019) 8 - p. 1467-1474 , 2019
Link:
https://doi.org/10.1111/..
1-15