The localization of amyloid precursor protein to ependymal cilia in vertebrates and its role in ciliogenesis and brain development in zebrafish

by Jasmine Chebli, Maryam Rahmati, Tammaryn Lashley, Brigitta Edeman, Anders Oldfors, Henrik Zetterberg, Alexandra Abramsson
Published 2021-09-01

Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner.

by Mikael Sandstedt, Victoria Rotter Sopasakis, Annika Lundqvist, Kristina Vukusic, Anders Oldfors, Göran Dellgren, Joakim Sandstedt, Lillemor Mattsson Hultén
Published 2018-01-01

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

by Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte
Published 2018-09-01

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

by Christina Sundal, Susana Carmona, Maria Yhr, Odd Almström, Maria Ljungberg, John Hardy, Carola Hedberg-Oldfors, Åsa Fred, José Brás, Anders Oldfors, Oluf Andersen, Rita Guerreiro
Published 2019-11-01

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing.

by Swaraj Basu, Xie Xie, Jay P Uhler, Carola Hedberg-Oldfors, Dusanka Milenkovic, Olivier R Baris, Sammy Kimoloi, Stanka Matic, James B Stewart, Nils-Göran Larsson, Rudolf J Wiesner, Anders Oldfors, Claes M Gustafsson, Maria Falkenberg, Erik Larsson
Published 2020-12-01

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

by Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti
Published 2019-10-01