One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure

por Wahlgren, Lisa, Kroksmark, Anna-Karin, Tulinius, Mar, Sofou, Kalliopi
Publicado 2021

Long term treatment with ataluren—the Swedish experience

por Michael, Eva, Sofou, Kalliopi, Wahlgren, Lisa, Kroksmark, Anna-Karin, Tulinius, Már
Publicado 2021

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes

por Sofou, Kalliopi, Dahlin, Maria, Hallböök, Tove, Lindefeldt, Marie, Viggedal, Gerd, Darin, Niklas
Publicado 2017

Use of costic acid, a natural extract from Dittrichia viscosa, for the control of Varroa destructor, a parasite of the European honey bee

por Sofou, Kalliopi, Isaakidis, Demosthenis, Spyros, Apostolos, Büttner, Anita, Giannis, Athanassios, Katerinopoulos, Haralambos E
Publicado 2017

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience

por Krantz, Mattias, Malm, Emma, Darin, Niklas, Sofou, Kalliopi, Savvidou, Antri, Reilly, Colin, Boström, Petra
Publicado 2022

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

por Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M, Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge
Publicado 2015

A multicenter study on Leigh syndrome: disease course and predictors of survival

por Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Már, Darin, Niklas
Publicado 2014

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

por Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E, Kaminski, Debora, Montoliu‐Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H
Publicado 2021

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

por Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., Kamsteeg, Erik-Jan
Publicado 2019