E-LIB Suche - Ergebnisse für: Sofou, Kalliopi

1

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/..

2

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/..

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

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..

6

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/..

7

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/..

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

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/..

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

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/..

12

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/..

13

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/..

14

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/..

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/..