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

द्वारा Hedberg-Oldfors, Carola, Lindberg, Christopher, Oldfors, Anders
में प्रकाशित Neurol Genet (2018)

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

द्वारा Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders
में प्रकाशित Neurol Genet (2020)

Progressive external ophthalmoplegia associated with novel MT‐TN mutations

द्वारा Visuttijai, Kittichate, Hedberg‐Oldfors, Carola, Lindgren, Ulrika, Nordström, Sara, Elíasdóttir, Ólöf, Lindberg, Christopher, Oldfors, Anders
में प्रकाशित Acta Neurol Scand (2020)

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

द्वारा Roos, Sara, Sofou, Kalliopi, Hedberg-Oldfors, Carola, Kollberg, Gittan, Lindgren, Ulrika, Thomsen, Christer, Tulinius, Mar, Oldfors, Anders
में प्रकाशित 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

द्वारा Hedberg Oldfors, Carola, Dios, Diego Garcia, Linder, Anna, Visuttijai, Kittichate, Samuelson, Emma, Karlsson, Sandra, Nilsson, Staffan, Behboudi, Afrouz
में प्रकाशित BMC Genet (2015)

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

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

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

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

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

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

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

द्वारा 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
में प्रकाशित Acta Neuropathol Commun (2019)

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

द्वारा 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
में प्रकाशित J Inherit Metab Dis (2016)

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

द्वारा 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
में प्रकाशित Ann Neurol (2014)

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

द्वारा 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
में प्रकाशित PLoS Genet (2020)

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

द्वारा 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
में प्रकाशित Hum Mol Genet (2019)

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

द्वारा 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
में प्रकाशित Brain (2020)

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

द्वारा 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
में प्रकाशित Acta Neuropathol Commun (2019)

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

द्वारा 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.
में प्रकाशित Am J Hum Genet (2020)