Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy

מאת Hedberg-Oldfors, Carola, Lindberg, Christopher, Oldfors, Anders
הוצא לאור ב Neurol Genet (2018)

COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

מאת Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders
הוצא לאור ב Neurol Genet (2020)

Progressive external ophthalmoplegia associated with novel MT‐TN mutations

מאת Visuttijai, Kittichate, Hedberg‐Oldfors, Carola, Lindgren, Ulrika, Nordström, Sara, Elíasdóttir, Ólöf, Lindberg, Christopher, Oldfors, Anders
הוצא לאור ב Acta Neurol Scand (2020)

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile

מאת Roos, Sara, Sofou, Kalliopi, Hedberg-Oldfors, Carola, Kollberg, Gittan, Lindgren, Ulrika, Thomsen, Christer, Tulinius, Mar, Oldfors, Anders
הוצא לאור ב Eur J Hum Genet (2018)

Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region

מאת Hedberg Oldfors, Carola, Dios, Diego Garcia, Linder, Anna, Visuttijai, Kittichate, Samuelson, Emma, Karlsson, Sandra, Nilsson, Staffan, Behboudi, Afrouz
הוצא לאור ב BMC Genet (2015)

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

מאת Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders
הוצא לאור ב Eur J Hum Genet (2016)

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

מאת Hedberg-Oldfors, Carola, Macao, Bertil, Basu, Swaraj, Lindberg, Christopher, Peter, Bradley, Erdinc, Direnis, Uhler, Jay P., Larsson, Erik, Falkenberg, Maria, Oldfors, Anders
הוצא לאור ב Neurol Genet (2020)

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

מאת Visuttijai, Kittichate, Hedberg-Oldfors, Carola, Thomsen, Christer, Glamuzina, Emma, Kornblum, Cornelia, Tasca, Giorgio, Hernandez-Lain, Aurelio, Sandstedt, Joakim, Dellgren, Göran, Roach, Peter, Oldfors, Anders
הוצא לאור ב J Clin Endocrinol Metab (2019)

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

מאת Sundal, Christina, Carmona, Susana, Yhr, Maria, Almström, Odd, Ljungberg, Maria, Hardy, John, Hedberg-Oldfors, Carola, Fred, Åsa, Brás, José, Oldfors, Anders, Andersen, Oluf, Guerreiro, Rita
הוצא לאור ב Acta Neuropathol Commun (2019)

Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature

מאת Hedberg-Oldfors, Carola, Glamuzina, Emma, Ruygrok, Peter, Anderson, Lisa J., Elliott, Perry, Watkinson, Oliver, Occleshaw, Chris, Abernathy, Malcolm, Turner, Clinton, Kingston, Nicola, Murphy, Elaine, Oldfors, Anders
הוצא לאור ב J Inherit Metab Dis (2016)

A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

מאת Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, den Bergh, Peter Van, Romero, Norma B., Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders
הוצא לאור ב Ann Neurol (2014)

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

מאת Basu, Swaraj, Xie, Xie, Uhler, Jay P., Hedberg-Oldfors, Carola, Milenkovic, Dusanka, Baris, Olivier R., Kimoloi, Sammy, Matic, Stanka, Stewart, James B., Larsson, Nils-Göran, Wiesner, Rudolf J., Oldfors, Anders, Gustafsson, Claes M., Falkenberg, Maria, Larsson, Erik
הוצא לאור ב PLoS Genet (2020)

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

מאת Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
הוצא לאור ב Hum Mol Genet (2019)

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

מאת Hedberg-Oldfors, Carola, Meyer, Robert, Nolte, Kay, Abdul Rahim, Yassir, Lindberg, Christopher, Karason, Kristjan, Thuestad, Inger Johanne, Visuttijai, Kittichate, Geijer, Mats, Begemann, Matthias, Kraft, Florian, Lausberg, Eva, Hitpass, Lea, Götzl, Rebekka, Luna, Elizabeth J, Lochmüller, Hanns, Koschmieder, Steffen, Gramlich, Michael, Gess, Burkhard, Elbracht, Miriam, Weis, Joachim, Kurth, Ingo, Oldfors, Anders, Knopp, Cordula
הוצא לאור ב Brain (2020)

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

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

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

מאת Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xavière, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Véronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Töpf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Böhm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Fauré, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Bönnemann, Carsten G.
הוצא לאור ב Am J Hum Genet (2020)