Kalliopi Sofou
-
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like
disease.
Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu-Gaya, Emma Samuelsson, Maria K. Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin-Cayuela, Fredrik H Sterky
EMBO molecular medicine - 2021-01-01 -
The phenotypic variability and natural history of NARS2 associated
disease
Kalliopi Sofou, Gittan Kollberg, Carola Oldfors Hedberg, Anders Oldfors
European Journal of Paediatric Neurology - 2021-01-01 -
Diagnostic value of serum biomarkersFGF21andGDF15compared to muscle sample in mitochondrial
disease
J. M. Lehtonen, M. Auranen, Niklas Darin, Kalliopi Sofou, L. Bindoff, O. Hikmat, J. Uusimaa, P. Vieira, Mar Tulinius, T. Lonnqvist, I. F. de Coo, A. Suomalainen, P. Isohanni
Journal of Inherited Metabolic Disease - 2021-01-01 -
Responding to feedback on the SITUPS mnemonic for medical
students
Kristina Bry, Kalliopi Sofou
Acta Paediatrica, International Journal of Paediatrics - 2020-01-01 -
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic
paraplegia
M. Pennings, M. I. Schouten, J. van Gaalen, R. P. P. Meijer, S. T. de Bot, M. Kriek, C. G. J. Saris, L. H. van den Berg, M. A. van Es, D. M. H. Zuidgeest, M. W. Elting, J. M. van de Kamp, K. Y. van Spaendonck-Zwarts, C. Die-Smulders, E. H. Brilstra, C. C. Verschuuren, B. B. A. de Vries, J. Bruijn, Kalliopi Sofou, F. A. Duijkers, B. Jaeger, J. H. Schieving, B. P. van de Warrenburg, E. J. Kamsteeg
European Journal of Human Genetics - 2020-01-01 -
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine
profile
Sara Roos, Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Ulrika Lindgren, Christer Thomsen, Mar Tulinius, Anders Oldfors
European Journal of Human Genetics - 2019-01-01 -
Prenatal onset of mitochondrial disease is associated with sideroflexin 4
deficiency
Kalliopi Sofou, Carola Oldfors Hedberg, Gittan Kollberg, Christer Thomsen, Åsa Wiksell, Anders Oldfors, Mar Tulinius
Mitochondrion - 2019-01-01 -
SITUPS: a new tool for oral case presentation in the paediatric emergency
department
Kalliopi Sofou, Kristina Bry
Acta Paediatrica - 2019-01-01 -
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease
patients.
Kalliopi Sofou, Pashtun Shahim, Mar Tulinius, Kaj Blennow, Henrik Zetterberg, Niklas Mattsson, Niklas Darin
Mitochondrion - 2019-01-01 -
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96
patients.
Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Tuula Lönnqvist, Laurence Albert Bindoff, Mar Tulinius, Niklas Darin
Journal of medical genetics - 2018-01-01 -
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term
outcomes.
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
Journal of inherited metabolic disease - 2017-01-01 -
Ophthalmological characteristics in children with Leigh syndrome - A long-term
follow-up.
Rebecka Åkebrand, Susann Andersson, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Acta ophthalmologica - 2016-01-01 -
Ophthalmologic involvement in Leigh
syndrome.
Marita Andersson Grönlund, Susann Andersson, Rebecka Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius
Acta Ophthalmologica - 2016-01-01 -
Ophthalmological and genetic findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius
WSPOS (World Society of Paediatric Ophthalmology and Strabismus), Barcelona, Spanien, 3-5 sept 2015. - 2015-01-01 -
Ophthalmological findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
NPOG, Åland, Finland, 10-12 juni 2015. Föredrag. - 2015-01-01 -
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1.
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, Mar Tulinius
Mitochondrion - 2015-01-01 -
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers
syndrome.
Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Davila Lopez, Niklas Darin, Claes M Gustafsson, Elisabeth Holme, Anders Oldfors, Mar Tulinius, Jorge Asin-Cayuela
Molecular genetics & genomic medicine - 2015-01-01 -
Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Mar Tulinius, Ali-Reza Moslemi
Euromit 2014, 15-19 juni, Tampere, Finland - 2014-01-01 -
Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial
encephalopathies
Kalliopi Sofou
- 2014-01-01 -
A multicenter study on Leigh syndrome: disease course and predictors of
survival.
Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A Bindoff, Mar Tulinius, Niklas Darin
Orphanet journal of rare diseases - 2014-01-01 -
Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Gittan Kollberg, Elisabeth Holme, Mar Tulinius, Anders Oldfors, Ali-Reza Moslemi
European Journal of Paediatric Neurology. 10th EPNS Congress 25-28 September 2013, Brussels, Belgium - 2013-01-01 -
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system
involvement.
Kalliopi Sofou, Karin Steneryd, Lars-Martin Wiklund, Mar Tulinius, Niklas Darin
Mitochondrion - 2013-01-01 -
Mitochondrial Disease: A Challenge for the Caregiver, the Family, and
Society
Kalliopi Sofou
Journal of Child Neurology - 2013-01-01 -
Phenotypic and genotypic variability in Alpers
syndrome.
Kalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, Ingibjörg Bjarnadottir, Anders Oldfors, Inger Nennesmo, Elisabeth Holme, Mar Tulinius, Niklas Darin
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 2012-01-01 -
Management of Prolonged Seizures and Status Epilepticus in Childhood: A Systematic
Review.
Kalliopi Sofou, Ragnhildur Kristjánsdóttir, Nikolaos Papachatzakis, Ali Ahmadzadeh, Paul Uvebrant
J Child Neurology - 2009-01-01